pmcid
stringclasses 138
values | text
stringclasses 138
values | context
stringclasses 138
values | role
stringclasses 18
values | role-name
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listlengths 0
18
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4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Pregnancy
|
Pregnancy
|
[
"full term normal vaginal delivery"
] |
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Lymphatic-System
|
LYMPH
|
[] |
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"21 - year old"
] |
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Age-of-Onset
|
Age (of onset)
|
[
"early childhood"
] |
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"non - classical congenital adrenal hyperplasia ."
] |
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Gastrointestinal-System
|
GI
|
[
"weight loss,",
"abdominal pain",
"no symptoms such as abdominal pain"
] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Patient-History
|
History
|
[
"A 37 - year - old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous ( IV ) drug abuser that required a permanent indwelling venous catheter for his repeated attacks"
] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Neurology
|
Neuro
|
[
"no symptoms such as abdominal pain, dark urine, and neurologic deficit."
] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"chest computed tomography revealed multiple cavities in both lungs",
"A large mobile veg on anterior leaflet of tricuspid valve commissure ( TVC ) with severe TR was also demonstrated in his transthoracic echocardiography"
] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Cardiovascular-System
|
CVS
|
[
"paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea"
] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Endocrinology
|
ENDO
|
[] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Genitourinary-System
|
GU
|
[
"no symptoms such as abdominal pain, dark urine"
] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Respiratory-System
|
RESP
|
[
"dyspnea",
"cough",
"paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea",
"multiple cavities in both lungs"
] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Musculoskeletal-System
|
MSK
|
[] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Dermatology
|
DERM
|
[
"sweating"
] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Pregnancy
|
Pregnancy
|
[] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Lymphatic-System
|
LYMPH
|
[] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"37 - year - old"
] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"He was diagnosed as having AIP 5 years ago ."
] |
4900341
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous catheter for his repeated attacks; so, he had a port since 9 months ago and received pethidine via that port during the attacks. On admission, a chest computed tomography revealed multiple cavities in both lungs. A large mobile veg on anterior leaflet of tricuspid valve commissure (TVC) with severe TR was also demonstrated in his transthoracic echocardiography. After starting antibiotic therapy and removing the port, the patient underwent TV replacement. In the day of surgery, prior to induction, all standard monitorings were applied; radial artery line and subclavian central venous (CV) line was also indwelled after induction. Premedication was consisted of incremental doses of fentanyl and midazolam. We used propofol and atracurium for induction. Maintenance of anesthesia was done by propofol, atracurium, midazolam and fentanyl. Following sternotomy and heparinization, cardiopulmonary bypass (CPB) was initiated. The patient cooled to 32–34°C. Myocardial protection was provided by hypothermic antegrade blood cardioplegic. The TV was replaced. After 70 min of CPB, separation from CPB was achieved, and heparin was reversed by protamine. Rewarming and weaning from CPB was uneventful. Four units of packed cell were given during CPB; Hct was maintained about 30%. Postoperatively, in Intensive Care Unit (ICU), the patient was extubated in 6 h. We started parenteral carbohydrate as dextrose 50% to prevent AIP attack, and the patient was encouraged to become per oral (PO) as soon as possible. Finally, he was discharged from ICU on day 2 after surgery. AB therapy was continued for several weeks. By providing adequate IV crystalloid fluids, we had prevented any dehydration. The patient was cautiously observed for any symptoms of AIP attack. Throughout his stay in ICU, he had no symptoms such as abdominal pain, dark urine, and neurologic deficit.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"parenteral carbohydrate as dextrose 50 % to prevent AIP attack"
] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"height is 141 cm, weight 47 kg",
"blood pressure ( BP ) was normal",
"normal BP"
] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Gastrointestinal-System
|
GI
|
[] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Patient-History
|
History
|
[
"A 25 - year - old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up.",
"She underwent clitoroplasty at 21 years of age"
] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Neurology
|
Neuro
|
[] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Her karyotype was reported as 45, X{20}/46, XX{80 },",
"17 - hydroxy progesterone ( 17 - OHP ) level was 1.3 ng / ml ( 0.2–1.4 ng / ml ), cortisol ( AM ) was 5–6 μg / dl ( 3.7–9.5 μg / dl ) dehydroepiandrosterone sulfate ( DHEAS ) was 189.6 μg / dl ( 65–380 μg / dl ) and serum total testosterone was 318 μg / dl ( 20–130 μg / dl ) which was highly raised",
"transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count",
"Her fasting glucose, follicle stimulating hormone ( FSH ), luteinizing hormone ( LH ), thyroid stimulating hormone, and prolactin levels were within normal limits",
"karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX",
"normal levels of 17 - OHP, Cortisol, FSH, LH, but increased levels of testosterone",
"adrenocorticotropic hormone ( ACTH ) stimulation test was done, which showed basal plasma 17 - OHP as 2300 ng / dl and postsynacthen ( 60 min ) as 3400 ng / dl ( < 900 ng / dl )"
] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Cardiovascular-System
|
CVS
|
[] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Endocrinology
|
ENDO
|
[
"primary amenorrhea since 16 years of age.",
"developed facial hair when she was 8 - year - old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris",
"not being able to achieve menarche.",
"17 - hydroxy progesterone ( 17 - OHP ) level was 1.3 ng / ml ( 0.2–1.4 ng / ml ), cortisol ( AM ) was 5–6 μg / dl ( 3.7–9.5 μg / dl ) dehydroepiandrosterone sulfate ( DHEAS ) was 189.6 μg / dl ( 65–380 μg / dl ) and serum total testosterone was 318 μg / dl ( 20–130 μg / dl ) which was highly raised.",
"short stature",
"hirsutism was evident. Her simplified Ferriman – Gallwey score for hirsutism was 9 ( ≥3 ). She had underdeveloped breast ( Tanner stage II )",
"Her fasting glucose, follicle stimulating hormone ( FSH ), luteinizing hormone ( LH ), thyroid stimulating hormone, and prolactin levels were within normal limits",
"Virilizing features of pubertal onset with raised testosterone levels",
"features of virilization; normal levels of 17 - OHP, Cortisol, FSH, LH, but increased levels of testosterone"
] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Genitourinary-System
|
GU
|
[
"gradual enlargement of the clitoris.",
"vagina and cervix were healthy, the clitoris was looking normal ( clitoroplasty done in past ) and urethra was mildly displaced posteriorly",
"uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count",
"hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region"
] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Respiratory-System
|
RESP
|
[] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Musculoskeletal-System
|
MSK
|
[
"short stature"
] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Dermatology
|
DERM
|
[
"developed facial hair when she was 8 - year - old. There was hair growth in the chest region",
"hirsutism was evident. Her simplified Ferriman – Gallwey score for hirsutism was 9 ( ≥3 )."
] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Pregnancy
|
Pregnancy
|
[] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Lymphatic-System
|
LYMPH
|
[] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"25 - year - old"
] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"8 - year - old ."
] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"the diagnosis of NCAH was reached"
] |
4691978
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris. At 16 years, she consulted the doctor for not being able to achieve menarche. She was then advised for a karyotype evaluation, but no endocrinological investigation was carried out. Her karyotype was reported as 45, X{20}/46, XX{80}, based on which a diagnosis of mosaic Turner syndrome was given. She underwent clitoroplasty at 21 years of age and on and off laser hair removal for facial and chest hair. Her hormone profile was done for the 1 st time when she was 23 years old and 17-hydroxy progesterone (17-OHP) level was 1.3 ng/ml (0.2–1.4 ng/ml), cortisol (AM) was 5–6 μg/dl (3.7–9.5 μg/dl) dehydroepiandrosterone sulfate (DHEAS) was 189.6 μg/dl (65–380 μg/dl) and serum total testosterone was 318 μg/dl (20–130 μg/dl) which was highly raised. Thereafter, she was kept on antiandrogen but the cause of raised androgen was not explored. On examination, she was short stature. Her height is 141 cm, weight 47 kg and hirsutism was evident. Her simplified Ferriman–Gallwey score for hirsutism was 9 (≥3). She had underdeveloped breast (Tanner stage II); on pelvic examination, vagina and cervix were healthy, the clitoris was looking normal (clitoroplasty done in past) and urethra was mildly displaced posteriorly. On transvaginal sonography, uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count. Her blood pressure (BP) was normal. Her fasting glucose, follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone, and prolactin levels were within normal limits. Virilizing features of pubertal onset with raised testosterone levels in the absence of XY cell line or SRY gene points out an adrenal pathology and at the same time contradicted the diagnosis of mosaic Turner. Hence, we repeated the karyotype and did the analysis at our own genetics laboratory; where more than 100 metaphases were counted with an automatic scanner and all the metaphases showed 46, XX. A genotype of 46XX with features of virilization; normal levels of 17-OHP, Cortisol, FSH, LH, but increased levels of testosterone; normal BP; hypoplastic uterus and normal ovaries, no palpable gonads in inguinal region; all favoring NCAH. To confirm NCAH, adrenocorticotropic hormone (ACTH) stimulation test was done, which showed basal plasma 17-OHP as 2300 ng/dl and postsynacthen (60 min) as 3400 ng/dl (<900 ng/dl). The raised level of 17-OHP after stimulation was in the range of NCAH and hence the diagnosis of NCAH was reached. For genetic confirmation patient was counseled for mutation study, which the couple declined due to financial constraints. She was started on low dose steroids to suppress the adrenal production of androgens. The patient was recruited for antagonist protocol of in vitro fertilization (IVF) through which 4 mature ova was retrieved. Earlier, she had been counseled for donor oocyte program considering her a case of mosaic Turner.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"She was started on low dose steroids to suppress the adrenal production of androgens ."
] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"144 cm in height"
] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Gastrointestinal-System
|
GI
|
[
"history of chronic intractable diarrhea"
] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Patient-History
|
History
|
[
"A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration",
"he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co - operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal.",
"We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance"
] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Neurology
|
Neuro
|
[
"He was coherent and co - operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements",
"achieved complete improvement in his mental status"
] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles",
"Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol",
"Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg / dL ( normal value : 0.02 - 0.12 mg / dL )",
"normal values of serum cholestanol"
] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Cardiovascular-System
|
CVS
|
[] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Endocrinology
|
ENDO
|
[] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Genitourinary-System
|
GU
|
[] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Respiratory-System
|
RESP
|
[] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Musculoskeletal-System
|
MSK
|
[
"bilateral slow growing and painful swellings of his achilles tendons",
"each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side",
"significant disability with limitation of his walking distance",
"Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles",
"Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol",
"short statured",
"pain on the left ( non - operated ) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful",
"swellings of both achilles tendons causing signification limitation of walking distance"
] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"surgery for bilateral juvenile cataracts at the age of 8,",
"peculiar yellow conjunctiva"
] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Dermatology
|
DERM
|
[] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Pregnancy
|
Pregnancy
|
[] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Lymphatic-System
|
LYMPH
|
[] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"19 year old",
"19 year"
] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"Thus a diagnosis of cerebro - tendinous xanthomatosis was made",
"cerebro - tendinous xanthomatosis",
"cerebrotendinous xanthomatosis"
] |
4719269
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side. He was initially advised rest, analgesics and foot wear modification. However, the symptoms did not subside and the situation worsened resulting in significant disability with limitation of his walking distance. Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles ( Fig. 4 ). Surgical excision was offered and the right sided one was selected first as it was more symptomatic. The swollen tendinous portion measuring 6×3 cm was excised ( Fig. 5 ) followed by reconstruction using the ipsilateral peroneus brevis tendon. Immediate and early post-operative period was uneventful. Biopsy of the excised specimen revealed it to be a xanthoma characterized by the accumulation of mononuclear cells with foamy cytoplasm and multinucleated giant cells with high concentration of cholestanol. Thus a diagnosis of cerebro-tendinous xanthomatosis was made. On detailed retrospective inquiry, he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co-operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements. Family history revealed that he was a child of a consanguineous marriage. Other sibling, a girl was normal. He was short statured measuring 144 cm in height ( Fig. 1 ), thin built with a peculiar yellow conjunctiva. Hematological and biochemical investigations including liver function tests, lipid profile, thyroid function tests and ultrasound examination of abdomen were normal. A special test - serum cholestanol level was elevated to 4.37 mg/dL (normal value: 0.02-0.12 mg/dL). Based on the clinical picture, pathological and serological analysis, the diagnosis of cerebro-tendinous xanthomatosis was confirmed and was kept on medical therapy with chenodeoxycholic acid (CDCA), a synthetic bile acid. RESULT: He was kept under regular follow up with neurologic and neuropsychological evaluation, musculoskeletal examination and serum cholestanol estimation. He started to improve after 3 months of continued medication. According to the latest follow up of 23 months, he achieved complete improvement in his mental status and normal values of serum cholestanol. The pain on the left (non-operated) tendoachilles disappeared completely although swelling persisted. His walking distance improved. However, had reappearance of the swelling in the reconstructed tendon on the right side, although was not painful ( Fig. 6 )', 'Case Report:': 'We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"medical therapy with chenodeoxycholic acid ( CDCA ) , a synthetic bile acid ."
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"red colored urine since birth,",
"height 133 cm ( < −3 standard deviations",
"anemia an Hb of 8.3 g / dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis",
"fluorescent red urine"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Gastrointestinal-System
|
GI
|
[
"protuberant abdomen with hepatosplenomegaly",
"hepatomegaly, splenomegaly"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Patient-History
|
History
|
[
"A 13 - year - old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown - pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun - exposed areas, which healed with scarring and disfigurement of nails since 1 - year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Neurology
|
Neuro
|
[
"mental developmental history were normal"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Investigations revealed anemia an Hb of 8.3 g / dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood 's lamp. Porphobilinogen was not detected on Watson – Schwartz test in the urine",
"Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side",
"The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation",
"absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Cardiovascular-System
|
CVS
|
[] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Endocrinology
|
ENDO
|
[] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Genitourinary-System
|
GU
|
[
"red colored urine since birth",
"undescended testis on the left side",
"undescended testes with hydrocele on the right side",
"fluorescent red urine"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Respiratory-System
|
RESP
|
[] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Musculoskeletal-System
|
MSK
|
[
"short statured"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"reddish brown - pigmented teeth",
"Teeth showed brownish - red pigmentation, fluorescent under Wood 's lamp",
"erythrodontia"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Dermatology
|
DERM
|
[
"excessive facial hair",
"burning sensation and recurrent blistering over the sun - exposed areas, which healed with scarring and disfigurement of nails since 1 - year of age",
"obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin",
"Nails were discolored",
"hypertrichosis"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Pregnancy
|
Pregnancy
|
[
"birth and mental developmental history were normal"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Lymphatic-System
|
LYMPH
|
[] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"13 - year - old"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Age-of-Onset
|
Age (of onset)
|
[
"since 6 months of age"
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia , hypertrichosis , fluorescent red urine , absence of porphobilinogen in urine , and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP ."
] |
4966423
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with scarring and disfigurement of nails since 1-year of age. His birth and mental developmental history were normal. He had an asymptomatic female sibling 8 years of age, and there was no family history of similar complaints. Examination revealed a short statured male child of height 133 cm (< −3 standard deviations). Abdominal examination revealed a protuberant abdomen with hepatosplenomegaly and undescended testis on the left side. He had obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers, forearms, and feet with postinflammatory hyperpigmentation and scars over affected skin. Teeth showed brownish-red pigmentation, fluorescent under Wood's lamp. Nails were discolored. Investigations revealed anemia an Hb of 8.3 g/dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood's lamp. Porphobilinogen was not detected on Watson–Schwartz test in the urine. Ultrasonography of abdomen confirmed the hepatomegaly, splenomegaly, and the undescended testes with hydrocele on the right side. Mutation analysis was carried out for the affected child and his parents. The affected child exhibited a missense mutation in the UROS gene identified as a transversion of A to G at nucleotide 56, resulting in a substitution of tyrosine by cysteine. The patient showed a homozygous mutant profile, and the parents were heterozygous carriers for the mutation. Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia, hypertrichosis, fluorescent red urine, absence of porphobilinogen in urine, and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP. He was managed with sun avoidance and liberal use of sunscreen administration. He was referred to the surgical center for definitive management of undescended testis. He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens (HLA) matched donor."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens ( HLA ) matched donor ."
] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Gastrointestinal-System
|
GI
|
[
"suspected acute cholecystitis",
"acute cholecystitis",
"abdominal pain, nausea, and vomiting",
"bout of severe abdominal pain ( diagnosed as cholecystitis )",
"contracted gallbladder and stones"
] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Patient-History
|
History
|
[
"We present a case of a 26 - year - old female with suspected acute cholecystitis, mental status changes, and seizures"
] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Neurology
|
Neuro
|
[
"mental status changes, and seizures",
"repeated seizures",
"delirium, lower limb weakness, hyporeflexia, and psychological abnormalities",
"unexplained behavioral disturbances and lower limb weakness",
"cerebrospinal fluid ( CSF ) analysis findings were all within normal range"
] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"elevated urinary porphobilinogen, 5 - aminolevulinic acid, and total porphyrins",
"DNA molecular testing showed a novel heterozygous mutation ( c. 760delC p. L254X ) in the exon11 of the HMBS gene",
"sodium levels ranged between 118–125 mmol / L ( 135–144 mmol / L ), mildly elevated transaminases ( aspartate aminotransferase / alanine transaminase ), and slight elevation of anti - neutrophil antibodies of the perinuclear type ( P - ANCA ). Alkaline phosphatase, bilirubin, complete blood count ( CBC ), thyroid - stimulating hormone ( TSH ), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid ( CSF ) analysis findings were all within normal range",
"The abdominal imaging result was normal, except for contracted gallbladder and stones",
"Total porphyrins in urine were elevated : 29,100 nmol/24 hours ( normal : ≤214 ), with main elevation in uroporphyrin level, 24,200 nmol/24 hours ( normal : ≤30 ), and mild elevation in coproporphyrin level, 118 nmol/24 hours ( normal : ≤38 ). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene ( c. 760delC p. L254X"
] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Cardiovascular-System
|
CVS
|
[
"elevated and uncontrolled blood pressure, sinus tachycardia"
] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Endocrinology
|
ENDO
|
[] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Genitourinary-System
|
GU
|
[] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Respiratory-System
|
RESP
|
[] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Musculoskeletal-System
|
MSK
|
[] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Dermatology
|
DERM
|
[] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Pregnancy
|
Pregnancy
|
[
"abdominal pain, nausea, and vomiting during first pregnancy",
"patient delivered a healthy child"
] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Lymphatic-System
|
LYMPH
|
[] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"26 - year - old"
] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"AIP"
] |
4235503
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis. The Saudi female patient in the UK developed recurrent bouts of abdominal pain, nausea, and vomiting during first pregnancy, diagnosed as hyperemesis gravidarum, and was treated with IV fluids and antiemetics. There was improvement in the condition and the patient delivered a healthy child (in Saudi). After 2 months, the patient presented with a bout of severe abdominal pain (diagnosed as cholecystitis), followed by repeated seizures, hyponatremia, elevated and uncontrolled blood pressure, sinus tachycardia, delirium, lower limb weakness, hyporeflexia, and psychological abnormalities. She was intubated for 3 days. Initial postextubation, physical examination result was unremarkable except for unexplained behavioral disturbances and lower limb weakness. Initial instigations showed sodium levels ranged between 118–125 mmol/L (135–144 mmol/L), mildly elevated transaminases (aspartate aminotransferase/alanine transaminase), and slight elevation of anti-neutrophil antibodies of the perinuclear type (P-ANCA). Alkaline phosphatase, bilirubin, complete blood count (CBC), thyroid-stimulating hormone (TSH), vitamin B12 level – markers for connective tissue diseases, viral titer values, and cerebrospinal fluid (CSF) analysis findings were all within normal range. The abdominal imaging result was normal, except for contracted gallbladder and stones. Urine became dark red on exposure to light. Total porphyrins in urine were elevated: 29,100 nmol/24 hours (normal: ≤214), with main elevation in uroporphyrin level, 24,200 nmol/24 hours (normal: ≤30), and mild elevation in coproporphyrin level, 118 nmol/24 hours (normal: ≤38). DNA molecular testing showed a novel heterozygous mutation in the exon 11 of the HMBS gene (c. 760delC p.L254X). The patient was treated with intravenous heme arginate (4 mg/kg/day) for 5 days, that was followed by an improvement in the chemical and clinical parameters.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"The patient was treated with intravenous heme arginate ( 4 mg / kg / day ) for 5 days , that was followed by an improvement in the chemical and clinical parameters"
] |
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Gastrointestinal-System
|
GI
|
[] |
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Patient-History
|
History
|
[
"A 4 - year - old female patient with a nasal anomaly was admitted to our outpatient clinic"
] |
4293843
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided supernumerary nostril and cliteromegaly. Her laboratory studies revealed low levels of androstenedione and her history showed that she had medical therapy for 1 year for her congenital adrenal hyperplasia. No additional anomaly except patent foramen ovale was detected in her work-ups. Paranasal sinus computed tomography study revealed that her left-sided accessory nostril opened to the left nasal cavity. The patient was operated, the opening of the supernumerary nostril to the nasal cavity was obliterated and the widened nostril was narrowed by excisions from the alar ground and lateral side. A revision toward the nostril asymmetry is planned 1 year after the operation.'}
|
Neurology
|
Neuro
|
[] |
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