Grayish discoloration of scalp and eyebrow hair.


Polarized microscopy showing bright hair shaft with monotonous white appearance.


CT images after surgery in. Arterial phase.


VRT respectively. The arteries in porta hepatis are decreased compared with those before operation.


Hematoxylin and eosin stain of a duodenal biopsy specimen showing inflammatory cell infiltrate, marked blunting of villi and Strongyloides stercoralis larvae (x100).


Longitudinal and cross-sectional view of a duodenal biopsy specimen stained with hematoxylin and eosin showing several S. stercoralis larvae lying within a crypt (x40).


T2-weighted sagittal section showing multilevel ossification of ligamentum flavum (arrows) causing cord compression at multiple levels in cervical and thorax spine.


T2-weighted axial section at T10-T11 level showing ossification of ligamentum flavum with severe spinal canal stenosis and cord compression (arrow).


T2-weighted sagittal section at T10-T11 level showing ossification of ligamentum flavum with severe spinal canal stenosis and cord compression (arrow).


T2-weighted axial section at T10-T11 level showing intramedullary hyperintense signal changes (arrow) suggesting cord edema.


T2-weighted sagittal section showing intramedullary hyperintense signal changes at T10-T11 and T3 levels (arrows) suggesting cord edema.


T2 weighted sagittal section at T10-T11 level showing removal of previously present large ossified ligamentum flavum segment (arrow). Significant postsurgical changes are seen.


Preoperative computed tomography (CT) findings. Initial CT image on admission showing tumor in the sphenoid sinus.


Preoperative computed tomography (CT) findings. And destructive changes in the left petroclival synchondrosis (arrow).


Preoperative magnetic resonance imaging findings. Contrast-enhanced T1-weighted image showed the sphenoid sinus lesion with homogenous enhancement (*) (a).


Preoperative magnetic resonance imaging findings. The tumor involved several skull base structures and extend into posterior fossa (b).


Intraoperative findings. The tumor exposed by the transsphenoidal approach underlying the edematous sphenoid sinus mucosa (a).


Intraoperative findings. The tumor was relatively fibrous and was resected using ultrasound aspirator (b).


Intraoperative findings. Residual tumor connected to the petroclival lesion through the destructive clivus (allows) (c).


Postoperative magnetic resonance imaging findings (22 months after). Contrast-enhanced T1-weighted image showing that thickening of the sinus mucosa due to sinusitis, however, elimination of the petroclival tumor that had extended into the surrounding structures.


Intra operative photograph showing a tumour thrombus easily removed from the right IJV (arrow) via a longitudinal venetomy incision.


Axial T2-weighted magnetic resonance image of the pelvis shows a complete absence of the uterus, the cervix and the vagina, with normal ovarian signal intensity. The white arrow shows the left ovary.


Sagittal T2-weighted with fat saturation and T1-weighted with contrast show uterovaginal atresia.


Coronal section magnetic resonance imaging of the pelvis (proton density with fat saturation) shows a left side pancake-shaped kidney. The white arrow shows the ectopic kidney.


Magnetic resonance angiography (anterior view) of pelvic main vessels shows that the median sacral artery supplies the pelvic kidney. The white arrow shows the median sacral artery.


Malar hypoplasia, severe mandibular hypoplasia with retrognathia.


Genu varum and bilateral club feet.


Abnormal overbite with overlap of the upper teeth.


A 31-year-old man with 22q11.2 deletion syndrome who presented for evaluation of vascular anomalies. (a) Contrast-enhanced computed tomography of the thorax axial image demonstrates the main pulmonary trunk (P) giving rise to the right pulmonary artery (R) with the absence of the left pulmonary artery and hypertrophied collateral left bronchial artery (black arrow). (b) Computed tomography axial image demonstrates a right-sided aortic arch (A) and hypertrophied collateral left intercostal arteries (white arrow heads) and bronchial artery (white arrow) supplying the left lung. (c) Computed tomography axial image in lung window shows reticular opacities penetrating the peripheral left lung parenchyma representing intercostal artery collaterals (arrows). The left lung is slightly smaller compared to the right. (d) Computed tomography axial image shows no discernible thymic tissue in the anterior mediastinum.


Volume-rendered computed tomography angiographic image from the right anterior oblique perspective from the same patient shows the right-sided aortic arch (A) with mirror image branching: left brachiocephalic trunk (thick arrow), right common carotid artery (thin arrow), and right subclavian artery (arrow head). Note hypertrophied left internal mammary artery.


Axial post-contrast T1-weighted MRI showing homogeneously enhancing soft tissue along the course of right trochlear nerve entering the superior orbital fissure. Multiple homogeneously enhancing plexiform, soft-tissue masses are seen in bilateral cavernous sinus region obscuring the course of 3rd, 4th, 5th, and 6th cranial nerves.


(A) Axial post-contrast T1-weighted MRI image showing homogeneously enhancing soft-tissue mass in bilateral cerebellopontine angle extending into internal auditory canal along the course of 7th and 8th cranial nerve complex giving a bilateral "ice-cream cone" appearance suggestive of schwannomas.


(B) Coronal post-contrast T1-weighted image with a heterogeneously enhancing solid cystic mass of the nucleus of lower cranial nerve projecting in extra-axial spaces compressing and distorting left cervicomedullary junction along the course of the 9th cranial nerve toward jugular foramen. In addition, multiple lobulated enhancing masses are seen along the course of exiting lower cranial nerves (10th, 11th, and 12th cranial nerves) in upper cervical foramina.


(C) Sagittal T2-weighted image with mass in cervicomedullary region as detailed above. Additionally, intramedullary T2 hyperintensity at C2-C3 level (compatible with ependymoma or astrocytoma) with intradural extramedullary neural lesion at C6 level displacing the cord anteriorly with intramedullary hyperintensity is seen.


Hematoxylin and eosin stain of the biopsy of the exophytic growth over the trunk, demonstrating picture consistent with neurofibroma.


Time course of thyroid function. The first thyrotoxicosis episode was misdiagnosed as Graves' disease and rapidly changed to a hypothyroid state due to thiamazole administration. One and a half years later, a second thyrotoxicosis episode occurred, and the patient recovered without treatment. Four years after the first episode of thyrotoxicosis, the third thyrotoxicosis episode occurred. Low Tc-99 m uptake without fever and pain indicated painless thyroiditis. Retrospectively, all of these thyrotoxicosis episodes seemed to be repeated painless thyroiditis.


SWISS-MODEL-predicted structures of ADAMST13WT
(A) and ADAMST13 p.


R193W
(B). Tryptophan (a basic amino acid with molecular weight of 204) in substitution for arginine (an aromatic amino acid, with molecular weight of 174) changed the molecular weight, polarization and folding, probably leading to accelerated protein degradation.


Preoperative and postoperative clinical photographs. Right eye of Case 1 with spherophakia.


Preoperative and postoperative clinical photographs. Left eye of Case 2 with spherophakia status post trab, and ,patent superior peripheral iridectomy.


Preoperative and postoperative clinical photographs. Glued intraocular lens in situ in the right eye of Case 1.


Preoperative and postoperative clinical photographs. Glued intraocular lens in situ in left eye of Case 2.


Preoperative and postoperative clinical photographs. Circled inset showing intrascleral portion of haptic of the glued intraocular lens on anterior segment examination.


Anthropometry of patients with Weill-Marchesani syndrome. Two brothers with spherophakia. Short stature, brachycephaly.


Anthropometry of patients with Weill-Marchesani syndrome. Two brothers with spherophakia. Brachydactily of upper extremity with stiff joints.


Anthropometry of patients with Weill-Marchesani syndrome. Two brothers with spherophakia. Brachydactily involving lower extremity.


Clinical presentation of the patient. Body scheme showing the distribution of six cafe-au-lait macules (CALMs) (a).


Clinical presentation of the patient. Colonoscopy image showing multiple polyps in a section of the left hemicolon (b).


Clinical presentation of the patient. Representative CALMs from trunk, note the irregular (cost of Maine shaped) border.


Clinical presentation of the patient. And right hip.


Ceramic edge-up partial crowns cemented.


6 months follow up photograph.


Coronal and sagital view of the pituitary visualised by positron emission tomography using 11C-methyl-L-methionine magnetic resonance imaging (MET-PET/MR). The study revealed the pituitary gland as being morfologically slightly thicker on the left side of the cyst with a peak of tracer uptake in this area. SUV max was 4.17 for this region compared to SUV max 3.14 in the remaining pituitary tissue. White arrows indicate the location of increased tracer uptake.


Timeline with information from the episode of care.


Limb deformities.


Ectrodactyly of toes.


X-ray right hand showing syndactyly.


X-ray of left hand showing ectrodactyly.


Protrusion over right thigh.


X-ray showing bifid femur with fibular agenesis.


X-ray showing absence of right 3,4,5 metatarsals and phalanges, absence of left 4,5 metatarsals and phalanges.


X-ray showing caudal (sacrococcygeal) agenesis.


Multislice CT scan (coronal plane) prior to orbital decompression. . Note: There is significant enlargement of the extraocular muscles, more pronounced on the left, and apical crowding.


Multislice scan (coronal plane) 1 week after bony decompression of the left orbit. . Notes: There are defects in the lateral, medial, and inferior orbital walls. Significantly enlarged medial and inferior rectus muscles are displaced toward the defects in the corresponding walls. The lateral rectus muscle and orbital fat are observed outside the internal contour of the lateral wall.


Histology of a prolactin-producing pituitary tumor. Tumor with diffuse growth pattern of cells with elongated nuclei and inconspicuous nucleoli and moderate amount of slightly acidophilic cytoplasm [(A):HE 400x.


Histology of a prolactin-producing pituitary tumor. Prolactin expression in neoplastic cells [(B):400x.


Thyroid ultrasonography (A) showed a normal size gland, with heterogeneous texture and pseudonodular areas, without nodular lesions, suggesting thyroiditis. The color flow Doppler signal showed significantly increased vascularity with diffuse homogeneous distribution (thyroid inferno).


There was a markedly hyperfunctioning thyroid in scintigraphy (B), with homogeneous activity distribution and no focal areas suggestive of hyper- or hypoactive nodular formations. The radioactive iodine uptake was 70.2% at the end of 24 h, markedly elevated compared to normal range (10-30.


Panel (C) shows the evolution of thyroid function. After pituitary surgery in 2009 the patient developed secondary hypothyroidism and initiated LT4. She was admitted with primary hyperthyroidism in April 2015 and initiated MMI. During antithyroid drug withdrawal before scintigraphy, FT4 and FT3 re-increased above the reference range. MMI was progressively reduced after 6 months of treatment, but after withdrawal in October 2015, central hypothyroidism recurred and she resumed LT4 since March 2016. Abbreviations: LT4, levothyroxine; MMI, methimazole; FT4, free thyroxine; FT3, free triiodothyronine.


Evolution of serum prolactin levels over time and its relation with medical, surgical, and radiation therapy. *Samples not diluted.


Preoperative. T1, and . Another signal abnormality seen at S2-3 level causing scalloping of the vertebral bodies - isointense on T1.


T2-weighted sagittal magnetic resonance imaging (MRI) showing mixed signal abnormalities representing syringomyelia with septations extending from T12 to S1 levels, alongside cord tethering and thickening of the filum terminale at the S2 level. Hyperintense on T2 , representing a Tarlov cyst.


T1-weighted axial cuts at the L3-4 level.


Highlighting contrast enhancement of a solid component with gadolinium and enlargement of the spinal canal at the S2 level by the Tarlov cyst.


(a) Observation of a very thinned out dural layer after laminectomy as depicted on durotomy.


(b) A midline myelotomy was performed to decompress the syrinx.


(c) Closer inspection revealed a yellow colored gliotic encysted space occupying lesion at the caudal end of the myelotomy.


(a) Represents the thickened filum terminale observed after S1-2 laminectomy, which was divided to untether the cord.


(b) The picture shows the relation of the Tarlov cyst with the durotomy (proximal) done for un-tethering.


(c) Represents the fenestration of the Tarlov cyst with evacuation of fluid and partial removal of the cyst wall.


Erythematous nodules over leg.


Boggy erythematous plaque over dorsum of the hand, with sutures at site of skin biopsy in the center.


Targetoid erythematous nodule on the radial aspect of finger.


T1-weighted pituitary magnetic resonance imaging before . (A) Pre-CAPTEM sagittal image shows an increase in the size of the seal tumor (26 mm) with a subacute bleeding component.


After. Treatment with capecitabine and temozolomide. (B) Post-CAPTEM sagittal image shows a decrease of 65% with a total size of 9 mm.


T1-weighted pituitary magnetic resonance imaging before . (C) Pre-CAPTEM pituitary coronal image shows invasion of clivus and protrusion into the sphenoid sinus.


After. Treatment with capecitabine and temozolomide. (D) Post-CAPTEM coronal image shows a decrease in size of the lesion, more prominent at the right level.


T2-weighted pituitary magnetic resonance imaging before . (A) Pre-CAPTEM axial image.


After. Treatment with capecitabine and temozolomide. (B) Post-CAPTEM axial image shows a decrease in size of 65% with prominent cystic degeneration.


T2-weighted pituitary magnetic resonance imaging before . (C) Pre-CAPTEM pituitary coronal image.


After. Treatment with capecitabine and temozolomide. (D) Post-CAPTEM coronal image shows a decrease in lesion.


Pedigree and GLDC variations confirmed by Sanger sequencing of the family. The patient (II) had a compound heterozygous variation c.450C>G (p. N150K) and c.1261G>C (p. G421R), which were inherited from her father 1), and . Mother 2), respectively.


Respective left eye images.


Images of the tumor. . Note: CT.


Images of the tumor. Positron emission tomography. Showing a paraesophageal soft tissue mass (4.1x6.8 cm; max: 12.9 SUV). . Abbreviations: CT, computed tomography; SUV, standard uptake value.


Glass slide stained with hematoxylin-eosin (magnification x40), showing small, round blue and basophil cells with scant cytoplasm and large nuclei infiltrating through the paraesophageal soft tissue.


Immunohistochemistry of tumor cells. . Note: Immunoreactivity for CD99 is strongly positive on the membrane of tumor cells.


The recovery of patient's skin and oral lesions within next weeks following withdrawal of the causative medication. Note hyperpigmentation of recovered lesions characteristic of fixed drug eruption. Patient's finger lesion.


The recovery of patient's skin and oral lesions within next weeks following withdrawal of the causative medication. Note hyperpigmentation of recovered lesions characteristic of fixed drug eruption. Upper lip lesion.


The recovery of patient's skin and oral lesions within next weeks following withdrawal of the causative medication. Note hyperpigmentation of recovered lesions characteristic of fixed drug eruption. Malleolar skin.


The recovery of patient's skin and oral lesions within next weeks following withdrawal of the causative medication. Note hyperpigmentation of recovered lesions characteristic of fixed drug eruption. Abdominal skin.


Percutaneous liver biopsy exhibited ballooning or feathery degeneration and macrovesicular fat droplets in lobular hepatocytes and periportal fibrosis and ductular proliferation in a portal space.


Sagittal T1WI MRI Pituitary showing enlargement of the pituitary stalk, measuring 13 mm in AP diameter.


Post gadolinium sagittal (T1WI) MRI of pituitary showing homogenous enhancement of the pituitary stalk (yellow arrow). The pituitary gland is small in size and has no focal lesion.


Domain organization and evolutionary conservation of the SHANK1 protein. Top, the alignment of N-terminal regions of H. Sapiens SHANK1 and SHANK3 proteins, and SHANK1 homologs from selected species (N = 7, selected for maximal divergence), and the mutation site (Gly126) is indicated by a box and a dotted line. Below, the domain organization of SHANK1 protein (NTD, N-terminal domain; ANK, ankyrin repeat region, SH3 domain; HRS, Homer recognition site; SAM, sterile alpha motif (oligomerization site). Homology modeled region marked by green bar. Bottom, the conservation plot for the H. Sapiens SHANK1 protein. Dots, % of residue identical to H. Sapiens (excluding deletions) at a given position in the multiple sequence alignment of homologous proteins (N = 25), line, % of deletions at a given position in the same alignment. Green dots/lines denote the modeled region. Below, a close:in view of the conservation plot for the N-terminal domain fragment:mutation site (Gly126) marked in red.


Thoracic radiography showed cardiomegaly, and computed tomography revealed a left lung mass with invasion of the heart and pleural effusion.


MRI showed a large mass surrounding the heart. The arrow indicates endocardial invasion of a lesional mass.


2018-5-8 chest CT showed right upper lobe consolidation, and ,destruction of the left sternoclavicular joint (arrows).


2019-06-04 chest CT showed gradually absorption of pulmonary consolidation but remains of bone destruction and lymphadenopathy after treatment (arrows).


After treatment, level of Immunoglobin G remained high (normal range 7.51-15.6 g/L).


Anti-Interferon-gamma autoantibodies concentration in serum, the patient (range: 33.13-47.06 ng/mL) was 2.85-fold to healthy subjects (anti-IFN-gamma-autoAbs). ***P<0.001.


A pulmonary AVM as seen on echocardiogram.


Coronal CT images showing AVM on right and left side (arrow).


Axial and sagittal CTA with 3D reconstruction. . Notes: (A) Axial CTA shows significant decrease in diameter of the LRV as it crosses between the aorta and the anomalous CMT.


Axial and sagittal CTA with 3D reconstruction. (B) Sagittal CTA shows a very acute aortomesenteric angle, with resultant compression of the LRV by SMA originating from the CMT.


Axial and sagittal CTA with 3D reconstruction. (C) Left anterior inferior oblique view of the NCP using 3D reconstruction of the same CTA. . Abbreviations: CMT, celiacomesenteric trunk; CTA, computed tomography-angiography; LRV, left renal vein; NCP, Nutcracker phenomenon; SMA, superior mesenteric artery.


Orthopantomogram (panorex) demonstrating multiple lucencies (arrows) in the left mandible.


CT of the mandible. There are well-defined lytic lesions with evidence of cortical destruction (arrow). These findings were initially considered suspicious for osteomyelitis.


Bone scan demonstrating multiple areas of abnormally increased uptake including the mandible and right iliac as well as symmetric uptake in the femurs and tibia (arrows). Mild uptake was also present in multiple other locations in the axial and appendicular skeletons. This distribution is highly suggestive of Erdheim-Chester disease.


MRI findings demonstrating multiple bilateral and symmetric sclerotic foci in the humeri, femurs, and iliac bones (arrows).


Findings on PET were very similar to those of the bone scan and showed increased FDG uptake in multiple locations in the skeleton. As in the case of the bone scan, the symmetric uptake in the lower extremities (arrows) is strongly suggestive of ECD.


MRI of the head, which demonstrated a bulky adenohypophysis with thickening of the pituitary stalk (arrow), a typical finding in ECD.


Lateral X-ray showing C2 vertebral body displaced anteriorly to C3 vertebral body.


Cervical CT scan. Anterior dislocation of the vertebral body C2 to the vertebral body C3 with the length more than 5 mm.


Cervical CT scan. ; axial CT scan showing bilateral pedicle fracture of the C2 (arrow) without disturbance of the foramen transversarium of the C2.


Thorax CT scan showing bilateral "ground-glass opacity" in the lung (arrow) in the coronal.


Axial view.


Right elbow MRI series showing a large heterogeneously enhancing and likely hemorrhagic mass with dilated vascular structures within the medial aspect of the distal biceps: axial view post-contrast.


Coronal view post-contrast.


Sagittal view.


Right elbow MRI. No evidence of soft tissue mass or abnormal marrow signal: axial view.


Right elbow MRI. , coronal view.


Right elbow MRI.sagittal view.


Clinical photographs of patient's face. Note the distinctive facial features with bushy arched eyebrows, long eyelashes, thick everted upper lip, broad nasal bridge, facial nevi, and hypertrichosis on upper cutaneous lip.


Clinical photograph of patient's knees, with numerous depigmented demarcated patches in a semisymmetrical distribution.


Clinical photograph of patient's trunk, with numerous scattered melanocytic nevi.


Painful, exuberant scaling and vesicular plaques upon presentation.


Skin lesions after treatment.


A fair-complexioned baby in unconscious state.


Light microscopy of hair showing pili torti (x-200).


Bronze-tan of photo-exposed skin with silvery shine of the hair.


Irregular clumps of melanin along the hair shaft (x-200).


The enterocutaneous fistula and wound appearance on admission.


The wound after the third operation for the enterocutaneous fistula.


(a) Maximum intensity projection image of F-18 fluorodeoxyglucose positron emission tomography-computed tomography.


Axial computed tomography and fused positron emission tomography/computed tomography (b-c) images showing fluorodeoxyglucose avid mural thickening involving the antero-pyloric region of the stomach.


Axial computed tomography and fused positron emission tomography/computed tomography (d-g) images showing fluorodeoxyglucose avid lytic lesion involving the thyroid cartilage.


(a) Maximum intensity projection image of 18F-fluorodeoxyglucose/computed tomography scan.


Sagittal computed tomography and fused positron emission tomography/computed tomography (b and c) images showing fluorodeoxyglucose avid mural thickening involving the urinary bladder, the primary site.


Axial computed tomography and fused positron emission tomography/computed tomography (d-g) images showing fluorodeoxyglucose avid lytic lesion involving the left lamina of the thyroid cartilage.


a well-circumscribed 5 cm x 5 cm swelling in the mandible.


The effects of liraglutide at the dosage from 0.6 to 2.4 mg on the body weight and the body mass index of the patient.


Electrocardiography. A ECG 90 min after the onset of symptoms with ST depression in antero-lateral and inferior leads and specular elevation in aVR. B; ECG 3 hours after the onset of symptoms: normal exam.


Epithelial cells with an organoid and trabecular pattern with positive immunohystochemical staining for chromogranin A.


Negative for thyroglobulin.


Epithelial cells with an organoid and trabecular pattern with positive immunohystochemical staining for calcitonin (A-B).


Anatomo Physiological correlation between OCT Cirrus 4000 scan, Neurological Visual Field and Multifocal Electroretinogram. A; B-Scan of OCT Cirrus 4000 on foveal line of the right and left eye respectively (Red arrow shows the disruption of the photoreceptors). B; Neurological visual field of both eyes (Red arrow shows the limit of the peripheral scotoma and mild macular respect). C; Ganglion Cell Map of OCT Cirrus 4000 that shows a diffuse compromise of the ganglion cell with greater affection on the left eye. D; Multifocal electroretinogram that shows a diffuse compromise with a mild macular respect in both eyes. (Red arrow shows the limit of the functional and dysfunctional retina at macular level).


Specular microscopy shows the endothelial density with polymegathism and pleomorphism in both eyes.


Computed tomography scan showing normal adrenal glands.


18F-FDG PET/CT scan showed no uptake in the adrenal glands.


Mandibular occlusal radiographs showing multiple missing teeth along with the permanent tooth buds.


AP skull shows multiple lytic lesions in the frontal and parietal bones.


Exfoliative cytology showing multiple candidal hyphae.


After hospitalization, multiple papules with blotting of stomach.


Necrotic tissues of the patient in case report 2.


For the patient in the second case report, most of the scrotal skin and all of the penis skin were removed; this externalized the testes, epididymides, and cavernosa corpora.


Lateral.


Ventrodorsal. Radiographs of a black-legged seriema. The cloacolith is visible in caudal coelomic cavity. Observed as increased soft tissue density (arrows).


Two views (A and B) for the cloacolith removed from the black-legged seriema. The cloacolith measured approximately 4x3.7x3 cm.


Newborn with prominent neck swelling and X-ray of knee joint.


Clinical appearance of the postoperative wound on the patient's lower abdomen. The ulcer had been sutured at the emergency department of our hospital 3 days before the patient's first consultation with the department of dermatology (a).


Clinical appearance of the postoperative wound on the patient's lower abdomen. On admission at the department of dermatology 6 days later, the suture had completely disappeared (b).


Clinical appearance of the postoperative wound on the patient's lower abdomen. After VAC therapy, the abdominal ulcer rapidly became granulated and reepithelialized (c).


Clinical appearance of the patient's left arm on admission. The patient presented with multiple scars and previous skin grafts on the extremities as well as a missing left lower leg. She did not reveal details of the causes of these wounds.


Anterior view of neck.


Gingival overgrowth in relation the maxillary right quadrant.


Poikilodermatous changes on the face.


Sclera appeared icteric.


Medical image.


The dorsum of the hands revealed marked cigarette paper-like wrinkling. Intra oral view showing ulceration on buccal mucosa.


Orthopantomogram revealing mixed dentition period. Intraoral periapical radiograph of the affected region.


Postoperative view at the end of 3 months.


The patient in 2009.


Placement of a dental implant in the posterior right region of the mandible (a-c).


Periapical radiographs of the dental implants placed in mandible (positions # 19, 20, 30) (a-b).


Clinical photographs of the fixed prosthetic restorations on dental implants in positions # 30, 19 and 20 (a-b).


Clinical photographs of the patient's teeth and dental implants 5 years after dental implant placement.


Panoramic radiograph of the patient in 2015.


Panoramic radiograph of the patient in 2003.


Panoramic radiograph of the patient in 2005, after the placement of a dental implant in position #5.


Placement of a dental implant in the posterior right region of the maxilla (a-f).


Panoramic radiograph of the patient in 2010 after the placement of an additional dental implant in position #3.


Placement of a fixed prosthetic restoration on dental implants in positions #3 and 5 (a-f).


Placement of 2 dental implants in the posterior left region of the mandible (a-c).


The 3 month visit findings as documented by multimodal imaging. A; Color photograph of the right eye shows that the lesions now demonstrate central pigment hyperplasia with some surrounding depigmentation. Inset Microperimetry shows persistent central scotomas and slightly eccentric fixation. Visual acuity is 20/30 in the right eye.


The 3 month visit findings as documented by multimodal imaging. B; Fundus (488 nm) autofluorescence shows near normalization of the acute changes and underappreciation of the lesion boundaries in comparison with the infrared image.


The 3 month visit findings as documented by multimodal imaging. C; Infrared reflectance image shows high reflectivity of the macular lesions.


Visual field test at presentation. A remarkable upper temporal visual field defect and slight defect were observed in the right and left eye, respectively.


Visual field test at presentation at 1 month post presentation. Defect of visual fields was well improved although an only slight visual defect was left in the right eye.


Coronal sections of the repeated T1-weighted magnetic resonance images at 1 month post presentation. The herniation of the right optic nerve (arrow head) and gyrus rectus (*) improved.


Coronal sections of repeated. T1.


T2-weighted magnetic resonance images at 3 months post presentation. The bilateral optic nerves were cranially dislocated, resulting in remarkable expansion of the intrasellar cyst (arrow head). The contents of the cyst had a signal similar to signals of cerebrospinal fluid.


Brown color diamond shaped adherent scales on the upper limb and peeling of skin on the lower limb.


Case photograph of Sjogren-Larsson syndrome.


Radiograph of left forearm after plaster slab application.


Intra operative photograph showing radial shortening osteotomy fixed with dynamic compression plate and screws.


Intra operative photograph showing radial tubular intercalary auto graft placed in the gap after the excision of non-union of ulna.


Post-operative radiograph of left forearm showing in-situ radial plate and rush nail in ulna holding the intercalary bone graft in place.


Three years follow up radiograph of left forearm after the radial implant removal showing consolidation and incorporation of intercalary tubular radial graft in the ulna.


Interdigital pilonidal sinus of the right hand third web space.


(a) Histological examination in the first patient revealed a sinus tract, and multiple broken hair shafts. The sinus was surrounded by benign squamous epithelium, acute, and chronic inflammatory cells with foreign body giant cells. X40), (b) Histological examination in the second patient showed a sinus tract with multiple broken hair shafts, and . Foreign body type granulomas. X40).


CT of the chest remarkable for a new right lower lobe consolidation and re-accumulation of right-sided pleural effusion, with a background of emphysema, and peripherally oriented ground-glass opacities with sub-pleural sparing in the lungs, likely related to fibrosis.


12 lead electrocardiogram showing ST-segment elevation at V3-V4 with reciprocal changes at lead II and III.


Coronary angiography at the time of her presentation at the outline hospital. (a) Severe stenosis at mid right coronary artery.


Coronary angiography at the time of her presentation at the outline hospital. (b) Repeat angiography after nitroglycerin infusion with near complete resolution of the right coronary artery stenosis.


Coronary angiography at the time of her presentation at the outline hospital. (c) Moderate-severe stenosis at proximal left anterior descending artery.


Coronary angiography at the time of her presentation at the outline hospital. (d) Repeat angiography after nitroglycerin infusion with near complete resolution of the left anterior descending coronary stenosis.


Cardiac magnetic resonance imaging, (a) Mid ventricular short axis slice demonstrating transmural infarct (red arrows) of the anterior septum with evidence of microvascular obstruction (white arrows) on delayed gadolinium.


(b) Two-chambers view showing transmural infarction (red arrows) of the anterior septum with evidence of microvascular obstruction (white arrows) delayed gadolinium.


A; Lens partially subluxated into the anterior chamber. The crystalline lens is incarcerated in the pupil.


B; The whole corneal endothelium is touched by the iris and crystalline lens.


A; Dry vitrectomy was performed to get enough retrolental space and prevent sudden decreasing intraocular pressure after lens extraction.


B; Intracapsular lens extraction was performed with a lens spoon.


Sagittal.


Axial. Preoperative MRI showing epidural compression and circumferential vertebral involvement.


Brain MRI showing faint hyperintensity on Fluid Attenuated Inversion Recovery (FLAIR) images and positive diffusion-weighted (DWI) signal in the right lenticular and caudate nuclei, posterior insular and fronto-parietal cortex, without cortical atrophy or gadolinum enhancement.


Western Blot showing type 1 abnormal isoform of the prion protein (PrPSc) in both cingulate gyrus and cerebellum brain samples.


Pedigree chart for the presence of early-onset sensorineural hearing loss. Green: unaffected members; Red: affected members. Asterisk (*): individuals sequenced for genetic mutation.


Trends in serum sodium of our patient over the period of clinic follow-up.


The magnetic resonance imaging scan reveals two brain lesions.


Transesophageal echocardiogram showed a left atrial mass at the base of the posterior mitral valve leaflet with mobile fronds.


Intraoperative image: the tumor was found to obliterate the left atrial appendage and extended into the mitral valve annulus (yellow arrow).


Full-face photograph showing a generally debilitated state.


Intraoral photograph showing anterior palatal enlargement. Note displacement of the teeth in the related area.


Intraoral photograph showing swelling of the anterior alveolar part of the mandible and spacing of incisors are evident.


Radiograph of skull demonstrates "ground-glass" appearance of calvarium.


Panoramic radiograph showing expansion of both jaws with nearly homogenous or "ground-glass" trabecular pattern. Note the loss of cortical outline for the incisive nerve canal, poor definition of crestal bone, and inferior cortex of the mandible. The maxillary and mandibular lesions are not clearly distinguishable on this panoramic radiograph.


Intraoral radiograph showing loss of lamina dura of maxillary anterior teeth.


Intraoral radiograph showing loss of lamina dura of mandibular anterior teeth.


Full-face photograph showing improvement in overall clinical status.


Radiograph of skull showing improvement of the "ground-glass" appearance of calvarium.


Panoramic radiograph showing improvement of the pattern of trabecular bone.


Intraoral radiograph showing restoration of lamina dura of maxillary anterior teeth.


Intraoral radiograph showing restoration of lamina dura of mandibular anterior teeth.


Intraoral photograph of maxillary lesion showing healing with a small residual deformity.


Intraoral photograph of mandibular lesion showing healing.


(a and b) Radiograph showing resolution of metastatic calcifications and resolution of subperiosteal resorption of the phalanges.


Ichthyosis linearis circumflexa of the right thigh and lower leg.


Trichorrhexis invaginata with "bamboo appearance" seen on trichoscopy.


Front view of the child's chest before the first operation.


Three-dimensional reconstruction computed tomography scan of the chest after the second operation; anteroposterior view.


Front view of the child's chest 9 months after the second implant removal operation.


Lateral view of the child's chest 9 months after the second implant removal operation.


Left lateral view of the child's chest before the first operation.


Three-dimensional reconstruction computed tomography scan of the chest 5 months before the operation; left lateral.


Computed tomography scan of the chest 5 months before the operation demonstrates the lung compression.


Contoured mandible locking plates used in the first operation.


Three-dimensional reconstruction computed tomography scan of the chest after the first operation; anteroposterior view.


Three-dimensional reconstruction computed tomography scan of the chest after the first operation; axial view. Note the restored anterolateral contour of the chest.


Front view of the child's chest before the second operation.


Front view of the child's chest immediately after the second operation (correction of the bell-shaped chest wall).


The motor nerve conduction velocity in the left ulnar and median nerves was reduced to 24 and 28 m/s, respectively. The sizes of the compound muscle action potential of the left median nerve were 1.40 mV at the wrist and 0.74 mV at the elbow; the F wave of both nerves was not evoked.


Brain magnetic resonance image on day 22 of the illness. Fluid-attenuated inversion recovery intensity.


Brain magnetic resonance image on day 22 of the illness. Diffusion-weighted. Images reveal high-intensity lesions in the bilateral thalamus and medial temporal lobes.


(A) Coronal post contrast T1-weighted image showing pituitary enlargement with dome-shaped convexity.


(B) Coronal post contrast T1-weighted image showing lesion disappearing 6 months after levothyroxine supplementation.


(A) Coronal post contrast T1-weighted image showing dome-shaped superior convexity of the pituitary prior to starting levothyroxine therapy.


(B) Post coronal T1-weighted image showing post-levothyroxine therapy depicting total resolution of the thyrotroph hyperplasia and obliteration of the "dome.


Preoperative coronal T1-weighted image depicting similar pituitary enlargement as in Figures 1 and 2.


Microphotography showing important calcium deposits in vessels lumen with intimal fibroblastic proliferation (HE, 100X).


Microphotography at higher magnification showing the marked calcium deposits with an advanced diabetic microangiopathy (HE; 200X).


Positive deck-chair-sign (arrows) skin eruption on the trunk of patient 1 , who was found to have Sezary syndrome.


On the trunks of patients 2-5 , who were diagnosed with mycosis fungoides / cutaneous T-cell lymphoma with evidence of blood involvement.


Clinical examination of the patient revealed:. Facial disharmony.


Exorbitism.


Hypoplasia of midface.


Class III occlusion.


Narrowed upper dental arch.


Impaired lower dental arch.


Ophthalmological investigation of the patient revealed:. Strabismus.


Proptosis.


Medical image.


Exophthalmos.


Preoperative virtual planning:. Anterior craniotomy.


Facial bones osteotomy.


Circular osteotomy.


Vomer osteotomy.


Pterygo-maxillary disjunction.


Preoperative virtual planning:. Monobloc advancement.


Distractors positioning.


Surgical procedure:. Exposure of cranial skeleton.


Access to anterior cranial fossa.


Orbital roof osteotomy.


Lateral orbit osteotomy.


Postoperative computed tomography scan: Comparative computed tomography scan proves proper monobloc advancement.


(A, B) In thyroid echography, both lobes of the thyroid gland were swelling although increase of blood flow was not observed.


(C, D). In brain magnetic resonance imaging, there was a giant tumor (51 x 34 x 22 mm) around pituitary fossa, pressuring on optic chiasm from the middle. Bilateral internal carotid arteries were surrounded by the tumor, and infiltration into the cavernous sinus was observed.


(A) Time course of GH and IGF-1 levels for 6 years. After the diagnosis of GHoma and TSHoma, pituitary tumor resection was performed. After about 1 year later, cyber knife therapy was performed together with the treatment with somatostatin analog and GH receptor antagonist. After these therapies, GH and IGF-1 levels were suppressed for a long period of time.


(B) Time course of TSH, FT3 and FT4 levels for 6 years. After the operation, since thyroid function was not sufficiently suppressed, we started the treatment with anti-thyroid drug thiamazole. Since thyroid function was normalized after about 3 years later, we stopped the treatment with thiamazole. After then TSH, FT3 and FT4 levels were not increased for a long period of time.


Herpetic lesions in the right ear.


Facial nerve palsy with Bell's phenomenon and loss of nasolabial fold.


Preoperative MRI showing a sellar mass lesion with less enhancement with gadolinium (a).


Postoperative T1- weighted postcontrast image showing complete tumor removal with preservation of the pituitary gland and stalk (b).


Skull X-ray showing prominence of the jaw and mild frontal bossing (c).


Hand X-ray revealing cauliflower appearance at the distal phalanx of the hands (d).


Intraoperative photographs. The stretched anterior pituitary lobe had covered the tumor (a).


Intraoperative photographs. The tumor was resected in a double-suction technique intracapsularly (b).


Intraoperative photographs. The pseudocapsule was resected following internal debulking of the tumor (c).


Intraoperative photographs. A fat graft was packed into the cavity with a dural stitch following tumor resection (d).


Neck ultrasound and 99mTc-sestamibi scintigraphy performed on admission and 8 months after parathyroid apoplexy. (A) Baseline neck ultrasound showed a solid and hypoechoic 8 mm nodule located behind the right thyroid lobe (arrow).


Neck ultrasound and 99mTc-sestamibi scintigraphy performed on admission and 8 months after parathyroid apoplexy. (B) Baseline 99mTc-sestamibi scintigraphy showed an area of increased uptake (arrow).


Neck ultrasound and 99mTc-sestamibi scintigraphy performed on admission and 8 months after parathyroid apoplexy. (C) Follow-up neck ultrasound performed 8 months later notice the near complete disappearance of the nodule.


Neck ultrasound and 99mTc-sestamibi scintigraphy performed on admission and 8 months after parathyroid apoplexy. (D) Follow-up 99mTc-sestamibi scintigraphy performed 8 months later showing a marked reduction of the uptake, although residual activity was still noticeable.


Serum levels of total calcium and parathyroid hormone (PTH). The x-axis shows the calendar time and the boxes above the graph show the treatments. Assessments were made at several time points before, during and after cinacalcet treatment. Note the marked decline in PTH and total calcium (arrow) occurring about a month after cinacalcet reached the 180 mg/dl daily dosage.


Morphological appearance of the fine-needle aspirate of the patient's parathyroid nodule. Note the presence of necrotic debris and inflammatory cells mainly consisting in neutrophils (black arrow), macrophages (white arrow), and lymphocytes (arrowhead). Original magnification 20X.


Time course of the clinical parameters, diagnosis, and treatment for this subject. Firstly, about 4 weeks after starting nivolumab monotherapy for malignant melanoma, he suffered from destructive thyroiditis, and so we started replacement therapy with levothyroxine. Secondly, about 4 weeks after starting combination therapy of nivolumab and ipilimumab, he suffered from aseptic meningitis. Thereafter, we stopped both drugs and started steroid therapy with prednisolone. Finally, about 9 months after starting nivolumab, he suffered from isolated adrenocorticotropic hormone (ACTH) deficiency, and so we started replacement therapy with hydrocortisone.


Cerebral tissue oxygenation declines and renal tissue oxygenation increases after ductus ligation to reach a normal somatic-cerebral difference, which is maintained 9 h before rSrO2 decreases significantly and somatic-cerebral difference is inverted (blood flow redistribution). Once Milrinone is started, rSrO2 recovers as well as somatic-cerebral difference. When monitoring finishes, renal and cerebral tissue oxygenation are normal and somatic-cerebral difference is preserved.


After ligation, cerebral and renal tissue oxygenation increase. Echocardiographic reassessment (which coincides with an inverted somatic-cerebral difference) reveals low LVCO. After Milrinone starts renal tissue oxygenation increases slowly. Somatic-cerebral difference is preserved when echocardiographic re-evaluation shows a normal LVCO.


Bilateral cornea opacity, broadening of the nose base and microcephaly.


Polydactyly with camptodactyly and clinodactyly of the supernumerary finger.


Umbilical hernia with hypochromic macules of the abdomen.


Supernumerary toe with hypertrophy of the hallux.


Gadlinium-enhanced pituitary MRI (T1-weighted images). . Note: These images showed no enlargement of the pituitary gland or enhancing effect abnormality (white arrow). . Abbreviation: MRI, magnetic resonance imaging.


Orthopantomogram.


Previous computed tomography.


Current computed tomography.


Paranasal sinus - skull.


Chest X-ray.


Extraoral examination.


Cone beam computed tomography.


Cone beam computed tomography-three-dimensional image.


Cone beam computed tomography-three-dimensional view.


Bony window created on posterior antral wall.


Enucleation.


Enucleation - mandibular lesion.


Enucleated lesions from maxilla and mandible.


Satellite cyst.


Histopathologic slide view.


Pre-operative anteroposterior pelvic X-ray. Pre-operative anteroposterior pelvic X-ray that depicts the severe left hip osteoarthritis with the marked destruction of the femoral head, dysplastic acetabular roof, a large irregular osteophyte on the roof of the acetabulum, widening of the femoral metaphysis, and coxa valga.


Pre-operative profile X-ray of the left hip.


Pre-operative computerized tomography on the transverse plane. Pre-operative computerized tomography at the transverse plane showing the hypoplastic walls, narrow acetabulum, limited bone substrate, irregular osteophyte, small transverse diameter of the intramedullary canal, and anteversion of the socket and proximal femur.


Pre-operative computerized tomography on the coronal plane. Pre-operative computerized tomography at the coronal plane showing the hypoplastic walls, narrow acetabulum, limited bone substrate, irregular osteophyte, small transverse diameter of the intramedullary canal, and anteversion of the socket and proximal femur.


Post-operative anteroposterior pelvic X-ray of the 1stpost-operative weeks.


Post-operative lateral left hip X-ray of the 1stpost-operative weeks.


Post-operative anteroposterior pelvic X-ray at 5 years.


Post-operative lateral hip X-ray at 5 years.


Computed tomography scan of clavicles. Erosion in right clavicle (white arrow).


Bone-scintigraphy findings showed intensive uptake of 99mTc at the sternoclavicular joints and sternum, called a "bull's head" sign.


(A,B) Physical examination of the patient's upper limbs showed hypotrophy of the right tenar eminence, of the extensor muscles of the fingers bilaterally, of the common extensor muscles of the fingers, with thinning of the dorsal face of the forearm, more evident on the right. Furthermore, over time, a characteristic "claw posture" of hands has become evident, more on the left side than on the right, limiting daily activities.


Cervical MRI of the neck in antero flexion, which does not show the hallmark of HD, ie, the forward movement of the posterior wall of the inferior cervical dural sac (2015).


Vertebral column in hyperlordotic attitude, with fulcrum in C3-C4, where there are concomitant arthrosis of the posterior apophyseal; forward displacement of the spinal cord in the C1-C2 tract, which, in a neutral attitude of the neck in orthostatism, laps the posterior profile of the district ligamentous-meningeal component (2017).


Normal eye, OD.


B-scan of both eyes. Longitudinal.


Transverse of OS showing diffuse choroidal thickening, and internal reflectivity representing a diffuse choroidal hemangioma with peripheral retinal detachment.


Normalization of CD4:CD8 ratio followed by increase of CD3+ donor chimerism after alloHSCT confirming graft-vs-Sezary effect.


(A) Intraretinal crystalloid deposits are observed in the right fundus image.


(B) Intraretinal crystalloid deposits are observed in the left fundus image.


Fundus fluorescein angiography of the right eye shows hypofluorescent patchy areas due to choroidal sclerosis.


(A) Hyperreflective dots in the intraretinal layers and in the retinal pigment epithelium layer are observed in the optic coherence tomography of the left eye.


(B) Corneal subepithelial hyperreflective deposits are observed in the anterior segment optic coherence tomography of the right eye.


Gynecomastia.


Almond shaped eyes with esotropia.


Fluorescence in situ hybridization.


Pre treatment - ulcers, hemorrhagic erosions in the trunk, face (Case 1).


Pre treatment - ulcers in theupper and lower lip (Case 1).


Post treatment - Skin lesions resolved (Case 1).


Post treatment - Oral mucosal lesions resolved (Case 1).


Pre treatment - ulcers in the tongue (Case 2).


Pre treatment - ulcers in the upper lip (Case 3).


Pre treatment - ulcers in the lower lip (Case 3).


Post treatment - lip lesions resolved (Case 3).


Pre treatment - ulcers and hemorrahagic lesions on the face (Case 4).


Pre treatment - ulcers on buccal mucosa (Case 4).


Pre treatment - ulcers on tongue (Case 4).


Lateral skull projection reveals mandibular prognathism (white arrow), maxillary hypoplasia, copper beaten appearance, and enlarged hypophyseal cavity (black arrow).


Anteroposterior spine radiograph shows decreased intervertebral space between C5 and C6 (black arrow).


Paranasal sinus view shows prominent convolution markings suggestive of copper beaten appearance (black arrow).


Three-dimensional (3D) computed tomographic images of skull show increased circumference of the skull.


Computed tomography (CT) image of the skull shows moderate degree of hydrocephalus with diffuse indentation of inner table of skull (black arrow).


Preoperative PET/CT displayed a right paramediastinal mass infiltrating the sternal body.


Titanium mesh resting on a titanium support plate.


T1-weighted sagittal image of a 2-year-old girl. Note the hypoplastic pons and cerebellum with normal appearance of the corpus callosum.


Multimodal imaging findings in a patient with posterior cortical atrophy at baseline and follow-up investigations. (Left) Positron emission tomography (PET) with F18-fluorodesoxyglucose (FDG-PET) reveals decreases in glucose metabolism: upper row in the patient (SUV standardized uptake value), second row compared to a healthy control cohort using NEUROSTAT/3D-SSP software (https://neurostat. Neuro. Utah. Edu). Bottom rows show amyloid-beta accumulation in patient's individual F18-florbetaben PET scan compared to a healthy control cohort using Hermes BRASS software (Hermes Medical Solution, Stockholm, Sweden). (Right) Structural magnetic resonance imaging (MRI), T1 sequence, illustrating atrophy. Note that Capgras delusion was firstly evident between third and fourth follow-up. L, left; R, right.


Extracting functionally impaired brain networks by mapping atrophy to resting-state networks and functional co-activations. (Top) Graphical representation of the clusters of brain atrophy timely associated with the emergence of Capgras delusion, ie, right posterior cingulate gyrus/precuneus, and middle frontal gyrus/frontal eye field. Coordinates of the maxima for each of the two clusters are reported in MNI space in the figure: x, y, z 4, -32, 44, and 28, 0, 52. (Middle) Results of the meta-analytic co-activation modeling (MACM) across >14,000 fMRI studies from the Neurosynth database (https://neurosynth. org/). Red blobs represent z-scores after correction for false discovery rate (FDR). (Bottom) Results of the seed-based resting-state functional connectivity analysis on an independent sample of N = 1,000 healthy controls generated with Neurosynth. Red blobs show Pearson's correlations with the seed, thresholded at r >= 0.2, uncorrected. Images are displayed in radiological convention. Left of the figure displayed on the right of the image.


Axial T2-weighted MR-image (A) shows an area of abnormal signal intensity (bone involvement) in the sternum with associated right parasternal soft tissue component. The soft tissue mass has a lobulated morphology, is well defined and has a high signal intensity.


Axial T1-weighted images after intravenous gadolinium contrast administration (B) show a heterogeneous lesion with peripheral enhancement and central areas of low signal intensity, corresponding to areas of necrosis.


Axial CT-images at the time of diagnosis (C) show an abnormal density in the sternum with large soft tissue component.


Follow-up CT after neoadjuvant chemotherapy (D) shows prominent shrinkage of the mass.


Follow-up CT after surgery (E) shows normal postoperative findings after partial sternal resection and reconstruction.


Sternal biopsy. HE stain (4x magnification) shows tumour cell infiltration between muscle fibres (A).


Sternal biopsy. HE stain (40x magnification) shows a high-grade population of 'small blue round cells', compatible with Ewing's sarcoma (B).


Cross section scheme of the sternal reconstruction with coronal plane.


Axial plane A layer of methyl methacrylate was sandwiched between two layers of a polypropylene mesh and sutured to the remaining ribs and muscles with polypropylene 3-0.


Intraoperative images of the resected sternal body incorporating the major pectoral muscles.


The large defect of the anterior chest wall after resection.


Sternal reconstruction by a methyl methacrylate sandwich graft.


Comparison of the preoperative situation, which shows a small scar from the sternal biopsy at the presternal area.


To the result four months after sternum resection and reconstruction by a polypropylene - methyl methacrylate sandwich graft and a pedicled myocutaneous latissimus dorsi flap.


Extended family tree illustrating the transmission of Gitelman syndrome over five generations. Males and females are indicated by squares and circles, respectively. Affected subjects are represented by dark symbols. The index patient is V.3.


Histopathology of the gastric biopsy showing several small noncaseating epitheloid cell granulomas (arrow head).


Histopathology of the endobronchial biopsy showing numerous small noncaseating epitheloid cell granulomas (arrow head).


Computed Tomography (CT) showing hilar lymphadenopathy.


Frontal view of the patient showing mandibular swelling.


Intraoral view showing missing lower canines.


Orthopantomograph showing multiple cysts in maxilla and mandible.


Lower occlusal view showing radiolucency and impacted teeth.


Lateral skull view showing bridging of the sella turcica.


CT, axial view showing multiple cystic lesions in maxilla.


CT, axial view showing extensive cystic lesion in mandible.


Bifid third rib on the right side with dextrocardia.


CT, axial view showing calcification of falx cerebri.


CT, axial view showing calcification of tentorial cerebelli.


CT, axial view showing bifid spine, cervical and thoracic vertebrae.


Ultrasonographic image showing spleen in right hypochondrium.


Ultrasonographic image showing left hypochondrium.


Ultrasonographic image showing transposition of great vessels.


Multiple palmer pits.


(a) 180. Of zonular loss with temporal subluxation of lens in right eye. Diffuse pigments on zonules are visible.


(b) Presence of Krukenberg's spindle and a faint Zentmayer's line.


(a) 180. Of zonular loss with temporal subluxation of lens in left eye.


(b) Presence of Krukenbergoes spindle.


H&E staining of skeletal muscle transverse section performed at the age of 14. Rare atrophic fibers and few centralized nuclei were present.


Radiograph-OPG.


Photographs of the infant showing. Hypertelorism.


Median cleft palate. A fleshy mass is seen through the defect.


The panel of sagittal. T1W.


Medical image.


T1W fat-suppressed MRI imags reveals tubo-mamillary fusion (thin white arrows). A large craniopharyngeal canal is seen with a nasopharyngeal mass at its caudal end (solid arrows). The mass is heterogeneously hyperintense on both T1W and T2W images, with signal loss on fat-suppressed images.


Coronal T1W.


T2W MRI images show duplication of the pituitary gland with two pituitary stalks (thin white arrows) and neurohypophyseal "bright" spots (thick white arrows). The optic chiasma is also widened. The floor of the third ventricle is thickened and there are two infundibular recesses (arrows).


T2W axial.


Maximum intensity projection (MIP) MRI images show duplication of the basilar artery. The superior cerebellar and posterior cerebral arteries are seen originating from the respective ipsilateral basilar artery.


(C and D) T2W coronal MRI images show hypoplasia of bilateral olfactory bulbs/tracts (thin white arrows) and anterior clefting of the cervical vertebrae.


B-mode US shows a solid nodule measuring 16x12x10mm in the upper right lobe of the thyroid with peripheral and central calcifications.


PTC cells are immunoactive for CK 19 (x40 HE).


Surgical specimen after surgery.


Two hours after surgery the patient was detected to have right-sided partial.


Conventional Papillary Thyroid Carcinoma. The papillae are composed of a central fibrovascular stalk covered by a neoplastic epithelial lining. The nuclei of the neoplastic cells show changes in size and shape, irregularities of the membrane and often overlapping (x100 HE).


Conventional Papillary Thyroid Carcinoma. The papillae are composed of a central fibrovascular stalk covered by a neoplastic epithelial lining. The nuclei of the neoplastic cells show changes in size and shape, irregularities of the membrane and often overlapping (x40 HE).


PTC cells are immunoactive for GAL 3 (x100 HE).


Magnetic resonance imaging (MRI) images of the current presentation. Preoperative T1-weighted images reveal a large recurrent pituitary macroadenoma with minimal patchy enhancement after gadolinium injection (a and b).


Magnetic resonance imaging (MRI) images of the current presentation. Postoperative T1-weighted images with contrast revealed near total excision of the adenoma (c and d).


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (a) Bluish discoloration of the dura caused by apoplexy of the underlying tumor is evident at the initial exposure.


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (b) Dark blood (asterisk) is seen on initial dural opening.


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (c) View of the necrotic purple adenoma tissue being resected from within the sella.


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (d) A pituitary ring curette elevates the downward bulging cistern and a pituitary Rongeur is used to excise the superior part of the tumor.


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (e) The uppermost tumor components (double asterisks) have been separated from the arachnoid of the suprasellar cistern.


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (f) Final view after tumor resection. Note the fat from previous surgery (arrowheads).


Acne and facial hair.


Enlarged penis with scant pubic hair. In a 6-year-old boy, showing signs of precocious pseudo-puberty as shown on both cases.


Advanced bone age of Case 2 (C).


Ultrasound of the testicles of Case 1.


Case 2.


Macroscopic anatomy findings of the left testis from the patient of Case 1.


Case 2 Note a well circumscribed yellowish-brownish mass inside the testis.


OD fundus. A; Initial visit: optic disc hyperemia and edema and several yellowish subretinal lesions located in the posterior pole and lower midperiphery.


OD fundus. B; After 6-month therapy: decreased optic disc hyperemia and edema and increased choroidal granulomas.


OD fundus. C; After 18-month therapy: decreased choroidal granulomas.


OS fundus. A; Initial visit: optic disc hyperemia and edema and several yellowish subretinal lesions located in the posterior pole and lower midperiphery.


OS fundus. B; After 6-month therapy: decreased optic disc hyperemia and edema and increased choroidal granulomas.


OS fundus. C; After 18-month therapy: decreased choroidal granulomas.


Chest X-ray. Chest X-ray showing a suspicion of hilar lymphadenopathy, especially on the left-side.


Histopathology. Histopathology of mediastinal lymph node, stained with hematoxylin-eosin, showing non-caseating granulomatous inflammation and multinucleated giant cells.


The histopathological features of the tumor. Hematoxylin and eosin staining of the tumor Scale bars: 50 mum.


The histopathological features of the tumor. And the outer surface of the temporal bone The tumor infiltrated some of the marrow cavities (black arrows in [b]), but not others (white arrow in [b]). The black arrowheads in (b-d) show the surface of the temporal bone. ; 200 mum.


The histopathological features of the tumor. And the outer surface of the temporal bone The tumor infiltrated some of the marrow cavities (black arrows in [b]), but not others (white arrow in [b]). The tumor invaded the compact bone The black arrowheads in (b-d) show the surface of the temporal bone. Scale bars: 50 mum.


The histopathological features of the tumor. And the outer surface of the temporal bone The tumor infiltrated some of the marrow cavities (black arrows in [b]), but not others (white arrow in [b]). And infiltrated the marrow cavities under the thin compact bone The black arrowheads in (b-d) show the surface of the temporal bone. Scale bars: 50 mum.


Outcomes obtained 12, 44, 62, and 134 days after the completion (the second adipose SVF injection) of treatment of the HGPS patient.


Extraoral view showing frontal bossing, hypertelorism, wide nasal bridge, and ,macrostomia.


Profile view showing cochlear implant, and ,beak-shaped nose.


Intraoral view showing oligodontia, and ,ankyloglossia.


Lower limbs showing missing toes and syndactyly.


Orthopantomogram showing agenesis of multiple permanent teeth.


Foot-ankle radiograph of the left foot showing agenesis of toes, and ,syndactyly.


Karyotype showing normal cytogenetic profile.


Right eye fundus photograph shows large cotton-wool spots in a peripapillary distribution as well as a heterogeneous pattern of grey translucency with periarterial sparing in the macula.


A horizontal spectral domain optical coherence tomography scan of the right eye was taken at foveal center, revealing an increase of the inner layer reflectivity and generalized inner retinal thickening.


Right eye widefield fluorescein angiography shows delayed choroidal filling, taken 43 seconds after administering the dye.


Right eye widefield fluorescein angiography shows peripheral pigmentary degeneration, discrete leakage and staining of the optic disc and peripapillary arterioles, taken 70 seconds after dye administration.


Right eye fundus photograph 4 weeks after initial presentation shows normal retinal characteristics.


Anterior segment photograph of the patient's right eye.


Cataract, a retrolental vascularized mass extending from the optic disc to the posterior lens capsule, and depression and enlargement of the optic disc in the right eye by Doppler ultrasonography.


The elongation of ciliary processes was demonstrated.


Limb asymmetry with right-side predominance.


Cutaneous (port wine) hemangioma of the right side of the neck and face.


Photograph of the patient revealing extensive left-sided facial atrophy.


Photograph showing left-sided tongue atrophy.


Magnetic resonance imaging cranium T2 FLAIR image demonstrated normal study.


Facial nerve stimulation on both sides revealing minor differences in latency and amplitudes.


No gross abnormality on blink reflex.


A; Clinical findings before surgery. Erythematous lesion on the patient's genital and hemorrhagic tumor on the right labia major.


B; Local recurrence around the postoperative scar (black arrowhead).


C; Skin metastasis before docetaxel therapy (white arrowhead).


D; CT revealed multiple lung metastases.


Phenotypic characteristics of Kabuki Syndrome at 18-years-old include eversion of the lower eyekid, enlongates eyelid closurem arched eyebrows, long eyelashes and nasal tip facing down.


Brain Magnetic Resonance Imaging (MRI) in axial contrasted T1.


Medical image.


Flair.


Diffusion Note: There are some artefacts on (d and e) images due to magnetic susceptibility by the dental appliance.


Apparent Diffusion Coefficient Hyperintense T2 lesion on right posterior white matter unattended signal alteration or contrast enhancement on T1 or diffusion restriction. It is a quite unspecific, may suggesting a possible gliosis probably due to another (previous) ischemic injury. Note: There are some artefacts on (d and e) images due to magnetic susceptibility by the dental appliance.


One year postoperative axial.


Sagittal.


A coronal. T1-weighted MR images showing no evidence of recurrence or abnormal findings in the supratentorial region.


Two years postoperative axial.


A coronal. T1-weighted MR images with gadolinium detecting a solid mass with strong enhancement in the right cerebellar hemisphere (yellow arrow) and an hyperintense extra-axial solid mass located at posterior part of the falx (green arrow).


Histological images of meningothelial meningioma showing syncytial clusters of meningothelial cells.


Clinical photograph showing massive scapular swelling.


Clinical photograph showing skull vault swelling in the frontoparietal region.


Pre-treatment radiograph of right shoulder showing a sclerotic lesion of scapula with loss of definition of margins of scapula and soft tissue mass.


Lateral radiograph of skull vault showing an osteolytic lesion with erosion of inner and outer tables associated with sutural diastasis and periosteal reaction.


Clinical photograph showing significantly reduced scapular swelling (post treatment).


Radiograph of right shoulder showing extensive sclerosis of the lesion after chemoradiation.


Post-treatment lateral radiograph of skull vault showing sclerosis in and around the lesion. The sclerosis seems to be bridging the diastasis.


Left type 3 triorchidism with common vas and separate epididymis. Cranial testis,. Caudal testis, C. Common vas D. Inguinal incision E. Hernia sac.


Left polyorchidism with separate epididymis and vas. Abdominal testis,. Atrophic inguinal testis, C. Inguinal incision with visible internal ring D. Contra-lateral descended testis.


Skull radiograph:multiple lytic areas.


Longitudinal evolution of calcemia.


MRI images. MRI images (1.5 tesla): (A,B) Sagittal sections in the T1-weighted MRI images: global cerebellar atrophy with a marked enlargement of the subarachnoid space, thinning of cerebellar folds and vermis (arrow) related to diffuse cerebellar atrophy.


MRI images. (C) Axial section in the T1 sequence: cerebral white matter and ventricles without alterations.


NSD1 gene sequencing. Exon 2 sequence of the NSD1 gene (superior: normal; inferior: patient sequence) showing the deletion of adenine (blue arrow) at position 247 (c.247delA), which has an effect on the protein and generates a premature stop codon at amino acid 87 (red box).


MRI brain coronal T1 weighted postcontrast images reveal heterogeneously contrast enhancing hyperintense sellar and suprasellar mass lesion extending laterally into cavernous sinuses and encasing both internal carotid arteries. Diffuse calvarial thickening and expansion in right high parietal region is also present.


MRI brain sagittal T1 weighted post contrast images reveal heterogeneously contrast enhancing hyperintense sellar and suprasellar mass lesion extending superiorly up to the floor of the third ventricle and pushing the optic chiasma superiorly and anteriorly.


The whole body 99m-Tc-MDP bone scan image reveals multiple regions of intense activity on the right side of the skull, mandible, right humerus, scapula, hemi pelvis, femur and tibia. Foci of increased uptake were also present in the lumbar spine and the left humerus.


X-ray pelvis AP view showing expensile radiolucent lesion with sclerotic foci in neck and metaphysis of B/L femur with sephered cook deformity on left side.


A plain X-ray film lateral view shows extensive involvement of skull base with thickening and sclerotic changes.


A. Facial phenotype of patient with midface hypoplasia, broad and prominent front, mild hypertelorism, strabism, broad nasal bridge, long and smooth philtrum, thin upper lip.


B. Posteriorly rotated ears and prominent antihelix.


A. Feet with brachydactyly and severe bilateral hallux valgus.


B. Metatarsal shortening and hypoplastic phalanges of all toes. Most notable is the thumb, which presents with valgus deviation of the last phalange.


Array CGH of the patient. Array Agilent SurePrint G3 Human CGH microarray kit, 8x60K 46,XY. array [GRCh37/hg19] 7p15.3p14.3(22574164_35288260)x1dn (12,714,097 bp).


T1 sagittal MRI. Adenohypophysis is morphologically not definable, therefore, aplasia is suspected. The neurohypophysis presents as punctuate signal enhancement midsize of the hypophysis stem.


The 10 years old girl with developmental delay, FTT, mental retardation and strabismus.


The 3.5 years old boy with bilateral abducens nerve palsy and developmental delay.


A: The pedigrees of case 1 and case 2. Arrows indicate the probands of each family.


B: Chromatograms showing sequence changes. The left chromatogram from case 1 (left) shows the aberrant 'C' peak, which is slightly larger than the normal 'T' peak (c.14590T>C). The right chromatogram from case 2 shows a normal 'G' peak, which is larger than the aberrant 'A' peak (c.14678G>A).


Muscle sections from case 1. Multiple peripheral and central cores are characterized by an inexplicit ovoid shape and indistinct borders. Nicotinamide dehydrogenase-tetrazolium reductase stain, x200.


Muscle sections from case 1. Multiple peripheral and central cores are characterized by an inexplicit ovoid shape and indistinct borders. Cytochrome C oxidase, x200).


Muscle sections from case 1. All of the muscle fibers were of type 1. Adenosine triphosphatase, pH 4.4, x200).


Muscle sections from case 1. D: Electron micrograph showing a core region lined by arrowheads. The myofibrils are disorganized (arrows) compared with those within intact fibers.


Muscle sections from case 2. These slides exhibit peripheral and central cores. Nicotinamide dehydrogenase-tetrazolium reductase, x200.


Muscle sections from case 2. These slides exhibit peripheral and central cores. Cytochrome C oxidase, x200).


Muscle sections from case 2. C: Staining with adenosine triphosphatase (pH 4.4, x100) reveals selective type-1 fiber atrophy.


Muscle sections from case 2. D: Electron micrograph showing a core region (arrows) characterized by disruption of the myofibrillar organization.


MRI brain axial section flair image showing bilateral parietoccipital hyperintense signals.


MRI brain coronal section flair image showing bilateral parietoccipital hyperintense signals.


(a) Axial trans abdominal USG image showing right (RH) and left (LH) uterine horns.


A hypoechoic lesion (M) is seen caudally.


Sagittal trans abdominal USG image showing endometrial cavity of the right uterine horn (RH) communicating with the hypoechoic lesion (M). Sagittal USG image directed further caudally shows the hypoechoic lesion to be an ovoid fluid collection with internal echoes, located posterior to the urinary bladder. It appears to end slightly above the introitus.


Trans labial sagittal USG image confirms that the collection (C) ends 1.5 cm above the introitus.


(a) Coronal Single shot T2W image shows absence of the right kidney. The distended hemivagina (asterisk) is seen on the right side and the normal collapsed left hemivagina with minimal fluid is seen adjacent to it (black arrow). The distended hemivagina ends above the introitus and its contents are hypointense to fat.


(b) Coronal Single shot T2W image shows right and left uterine horns (white arrows). The right uterine horn cavity is seen to communicate with the upper end of the fluid collection in right hemivagina (small black arrow).


(a) Axial T1W image of the pelvis shows bright signal intensity of the right hemivaginal collection (asterisk).


The collapsed left hemivagina is seen adjacent to it (arrow) (b) Axial fat saturated T2W image of the pelvis showing right hemivaginal collection (asterisk) and collapsed left hemivagina with minimal fluid (arrow).


Diagrammatic representation of anatomy of patient showing OHVIRA syndrome.


Medical image.


Intraoperative photograph showing smooth bulge (black arrow) in medial wall of patent left hemivagina caused by right hematohemicolpos. Intraoperative photograph of septoplasty procedure showing drainage of altered blood.


Coronal T2-weighted magnetic resonance image (T2W MRI) shows subtle hypointense signal intensity lesion in the left cavernous sinus lateral to internal carotid artery.


Axial constructive interference steady state (CISS) magnetic resonance image (MRI) showing enlarged left cavernous sinus due to a hypointense signal intensity lesion lateral to internal carotid artery (arrow), lesion is extending anteriorly towards the orbital apex.


Post-gadolinium enhanced T1-weighted magnetic resonance image (T1W MRI) shows intensely enhancing lesion in the left cavernous sinus (arrow) lateral to medially displaced internal carotid artery. Lesion appears larger as compared to T2-weighted (T2W) coronal image [Figure 1].


Post-contrast T1-weighted (T1W) axial magnetic resonance image (MRI) showing homogenous enhancement of the left cavernous sinus lesion (arrow); lesion is seen extending up to orbital apex as shown by constructive interference steady state MRI.


Treatment procedure, and timeline of symptoms during the treatment. MRI1, first MRI scan; MRI2, second MRI scan; MRI3, third MRI scan; MRI4, fourth MRI scan; bid, twice daily.


Cranial MRI images. (A and B) Cranial MRI imaging on admission to the department of hematology.


Cranial MRI images. (C and D) Cranial contrast-enhanced MRI imaging on the day before the third course showed that the mass in the cerebellopontine angle area had clearly enlarged.


Cranial MRI images. (E and F) Cranial contrast-enhanced MRI imaging on the day before the fourth course showed that the mass was reduced significantly.


Cranial MRI images. (G and H) Cranial contrast-enhanced MRI imaging on the day before the fifth course showed that the mass disappeared with cicatricial changes.


Intraoperative view of extensive scar and fibrosis surrounding the left ulnar digital nerve of the thumb.


Intraoperative view of the left ulnar digital nerve of the thumb after neurolysis.


Intraoperative view of the left ulnar digital nerve of the thumb after neurolysis, with view of the entire left hand.


Intraoperative view of the left ulnar digital nerve of the thumb with AxoGuard Nerve Protector in place.


Clinical history is summarized in this figure. PMD, paroxysmal movement disorders; EEG, electroencephalography; BCECTS, Benign Childhood Epilepsy with Centro-Temporal Spikes; ESES, Electrical Status-Epilepticus during slow-waves Sleep; SW, spike-and-wave; poly-SW, polyspike-and-wave; HM, hemiplegic migraine; ADHFD, Attention Deficit and Hyperactivity Disorder; VPA, Sodium Valproate; ESM, Ethosuximide; LTG, Lamotrigine.


EEG showed synchronous symmetrical irregular 2.5-3 Hz spike-and-wave sequences, facilitated by hyperventilation, consistent with atypical absence seizure.


Whole body bone scintigraphy images taken 3 hours after intravenous injection of 20 mCi of 99m-Tc-Methylene diphosphonate show increased symmetrical tracer uptake in diaphyses of bilateral femurs and tibiae. Increased tracer uptake is also noted in the proximal humeri. Scoliosis is also noted.


Radiographs (anteroposterior and lateral view) of the left lower limb showing fibrous dysplasia of the left femur and tibia.


Magnetic resonance images (axial and coronal) showing multiple well-defined lesions, hyperintense on T2 and STIR images, largest lesion seen in distal thigh, measuring 51 mm x 48 mm x 73 mm.


Single, encapsulated globular mass excised from distal thigh measuring 8 cm x 4 cm x 3 cm and weighing 88 g.


Histopathological examination showed a well-encapsulated tumor with myxoid background containing many interspersed stellate to spindle-shaped cells with scant to moderate amounts of cytoplasm.


Magnetic resonance images (axial and coronal) at 6 months showing initial increase in the inguinal and thigh lesion.


Magnetic resonance images at 2 years' followup showing decrease in the size of the thigh lesion and the minimal increase in the size of the inguinal lesion.


Chest X-ray. Chest X-ray description: small peripheral hazy opacity in medium field and more evident opacities at the medium-lower fields of both lungs, especially on the left side.


Serum cortisol, ACTH, glycemia, potassium and urinary free cortisol levels at presentation, during medical therapy and after thoracic surgery.


Gangrenous digits of the patient.


Ulcerated jugulodigastric node.


Histological specimen of jugulodigastric lymph node. Notes: (A) Biopsy from the ulcerated jugulodigastric node showing spindle cell carcinoma.


Histological specimen of jugulodigastric lymph node. (B) Cytology smear from the ulcerated jugulodigastric node showing spindle cell carcinoma.


Lymphangitis carcinomatosis involving the right lobe and mediastinal adenopathy.


37-year-old female patient with left Horner syndrome. Fig.1b: The resolution of the anisocoria and the left upper lid ptosis after instillation of apraclonidine.


Thyroid ultrasound displaying a solitary heterogeneous nodule which is 55 X 51 mm in size. Fig.2b: Computerize tomography imaging of the neck demonstrating the same thyroid nodule.


CT scan of the neck showing a normal thyroid gland.


Histopathology image of the thyroid tissue suspicious for PTC.


Histopathology image of the thyroid tissue showing florid Hashimoto's thyroiditis.


ACTH induced hyperpigmentation.


CT image showing heterogenous multilobulated pelvic lesion.


Ga-68 DOTANOC PET-CT showing pelvic lesion with no SSTR avid disease.


(C) FDG PET-CT showing FDG hypermetabolism of the pelvic lesion.


Large right ovarian tumour, 2 left ovarian cysts, and ,omentum.


Ruptured right pelvic tumour, uterus with left ovarian tumour.


ACTH trend since diagnosis and corresponding normal range. Difference in ACTH cut-offs before and after 22 months was due to a change in assay used.


Extraoral well-defined swelling on the left mid-face region.


Intraorally, well-defined, sessile swelling on the left side of the palate.


Computed tomography scan showing three-dimensional view of the extent of the lesion, revealing large destructive lesion involving maxillary sinus and maxilla on the left side.


Magnetic resonance imaging scans showing the extent of the lesion, involving the floor of the left orbit and maxillary bone.


(a) Microscopic examination of H&E stained lesional tissue (low magnification) lesion devoid of epithelium, showing densely packed cells throughout the tissue with focal areas of hemorrhage.


(b) higher magnification showing monotonous sheets of round cells densely packed throughout the lesional tissue.


Periodic acid-Schiff stained section showing intracytoplasmic glycogen positivity.


Lesional tissue expressing strong CD99 positivity.


Lesional tissue expressing strong positivity for Vimentin.


Trend of patient's platelet count (blue line) and hemoglobin (red line) over the hospital stay with respect to timing of splenectomy. Follow-up platelet count and hemoglobin on May 1 (not depicted on the graph) was 1,204,000/mm3 and 10.6 g/dl, respectively.


First-degree atrioventricular block detected on electrocardiography at the 1-year follow-up of Kawasaki disease.


An abdominopelvic CT scan image shows a large oval shaped heterogeneous mass arising from the right adrenal gland with heterogeneous enhancement and pressure effect on right lobe of the liver.


A low-magnification (10x) pathology image showing the neoplasm composed of atypical cells with pleomorphic nuclei and abundant oeosinophilic cytoplasm arranged in sheets with vascularised stroma.


AP and lateral right CCA injection demonstrating hypoplastic ECA with absent IMAX. A vessel supplying the IMAX territory arises from the petrous ICA in the expected region of the vidian artery. This finding is better appreciated on the selective ICA injection.


Right vertebral artery angiogram showing a large fenestration or unfused middle segment of the basilar artery. The distal basilar artery was unfused and the superior cerebellar arteries arose from the P1 segments of the posterior cerebral arteries bilaterally. A very prominent left posterior communicating artery fills the left supraclinoid ICA and bilateral cavernous sinuses (via direct CCF) in a retrograde fashion.


Lateral left CCA injection reveals back-filling of CCF from branches of the putative internal maxillary artery via prominent anastomoses from external carotid artery at the same site.


Lateral left CCA injection following coil embolization of the left ICA from below, at the origin of the putative left IMAX, results in occlusion of the cavernous carotid fistula.


Brain stem degeneration presents in brain MRI. Sagittal.


Brain stem degeneration presents in brain MRI. Transversal. T2-weighted brain MRI indicates gliotic neurodegeneration in the medulla oblongata with predominant loss of pyramidal tracts.


Brain stem degeneration presents in brain MRI. Magnification of inlay (c) uncovers pathologic brain stem formation reminiscent of 'kissing swans.


Brain stem degeneration presents in brain MRI. D; Transversal T1-weighted sectioning of the brain stem (arrow) after Gadolinium administration. No contrast enhancement is detectable.


Brain stem degeneration presents in brain MRI. E; Sagittal T2-weighted cervical spine MRI shows atrophy of the upper cervical spinal cord in addition to medulla oblongata atrophy.


Brain stem degeneration presents in brain MRI. F; Transversal T2-weighted brain MRI indicates putative periventricular rim-sign and global brain atrophy.


Brain stem degeneration presents in brain MRI. G; Brain MRI-angiography reveals normal intracranial vascular status without indication of stenosis.


(a and b) Axial and coronal CT lumbosacral spine showing the l5 wide transverse process with a bony ridge connecting the l5 to the sacrum. (Red arrow).


3D reconstruction of the lumbosacral spine showing the l5 wide transverse process with a bony ridge connecting the l5 to the sacrum. (Red circle).


Abdominal radiograph: Central, dilated loops of small bowel (white arrow). Note the plicae circulares or valvulae conniventes (yellow arrow), a feature of small bowel, which confirms that the dilated structure is small bowel. Some loops measure 64 mm in diameter. There is no gas within the large bowel suggesting a complete or nearly complete mechanical small bowel obstruction.


Axial CT image of the upper abdomen: There is diffuse pneumobilia (black arrow).


Axial CT image of the pelvis: There is a calculus (white arrow) identified within the small bowel lumen. Note the presence of both dilated and non-dilated small bowel.


Numerous gallstones retrieved from small bowel lumen.


The largest gallstone measuring 3.5 cm in diameter.


A and B. Pre-operative photos revealing ventral penile curvature, penile bulge and evident scrotal pump.


1a and 1b: Axial and sagittal T2-weighted images showing a septated cystic lesion located within the pelvis. This lesion is in continuity with the spinal canal through a hiatus located in the anterior and right aspect of the sacrum. (Horizontal line on the sagittal view). Dysraphism of the sacrum and coccyx is noted. Note that the urinary bladder contains a Foley catheter and is significantly compressed, as well as anteriorly and superiorly displaced.


2A and 2B: Axial T1 weighted image with fat signal suppression following gadolinium administration showing a partially enhancing, large lesion located in the pelvis, in the pre-and post sacral spaces. Sagittal T2 weighted image showing a mixed large lesion with a dominant solid component located at the tip of the sacrum showing an extension to the pelvis and posterior subcutaneous tissues. The urinary bladder is again noted to be anteriorly and superiorly displaced.


Photograph showing sparse, thin, light, blond hair over the scalp, scanty eyebrows, and eyelashes.


Midline diastema between maxillary anterior teeth.


Orthopantomogram showing retained primary teeth and multiple missing teeth.


Contrast enhanced computed tomography chest showing left hilar mass marked with arrow.


Contrast enhanced computed tomography hip region showing muscle metastasis with underlying bone.


Lung biopsy showing squamous cell carcinoma - both high power and low power view.


Biopsy of muscle metastasis (iliacus muscle) showing squamous cell carcinoma deposit.


Child of nephrotic syndrome showing facial swelling.


Fundus photograph of the right eye showing Purtscher-flecken, cotton-wool spots at the posterior pole around the optic disc with intraretinal hemorrhages.


Fundus photograph of the left eye showing Purtscher-flecken, cotton-wool spots at the posterior pole around the optic disc with intraretinal hemorrhages.


Fundus photograph of the right eye at 2 months showing complete resolution of retinal lesions, disc pallor, attenuation of retinal arterioles, loss of retinal nerve fibers, and pigmentary change in nasal retina.


Fundus photograph of the left eye at 2 months showing complete resolution of retinal lesions, disc pallor, attenuation of retinal arterioles, loss of retinal nerve fibers, and pigmentary change in nasal retina.


(A) Bruises on the left upper extremity, which developed after the second intra-articular injection.


(B) Bruise on the left lower extremity which developed into a non-healing ulcer.


(C) Cushingoid facies and facial plethora. The picture on the left was taken a week prior to the first intra-articular injection, and the second picture was taken nearly 2 months after the second injection.


Wide, violaceous striae on the chest.


Abdomen.


Follow-up images were collected at the patients most recent outpatient appointment, 7 months after the first intra-articular injection, showing resolution of symptoms. Of note resolution of. Cushingoid facies.


Follow-up images were collected at the patients most recent outpatient appointment, 7 months after the first intra-articular injection, showing resolution of symptoms. Extremity bruising.


Follow-up images were collected at the patients most recent outpatient appointment, 7 months after the first intra-articular injection, showing resolution of symptoms. Wide violaceous striae of the. Chest.


Follow-up images were collected at the patients most recent outpatient appointment, 7 months after the first intra-articular injection, showing resolution of symptoms. Abdomen.


A chick pea- size ulcerated tumor mass almost occluding the entrance of the left ear canal.


Distended ductules with their lumen largely occupied by proliferating neoplastic epithelium. These ductules were separated by interrupted layers of myo- epithelium. Inset: epithelial intracytoplasmic cerumen pigment-containin.


Invasion of neoplastic epithelial cells in the stroma. These cells are Pleomorphic and hyperchromatic and displayed poor acinar arrangement (H&E , x10).


Adenomatous irregularly dilated glandular acini containing sloughed folded and fragmented epithelium (H&E, x10).


Fundoscopy and OCT at presentation. . Notes: (A) Fundoscopy at presentation showing superotemporal commotio retinae and an abnormal cream foveal discoloration.


Fundoscopy and OCT at presentation. (B) The OCT of left macula at presentation shows outer photoreceptor segment disruption, RPE inter-digitation with some outer and inner segment foveal disruption, and intra-retinal edema at the outer nuclear layer. . Abbreviations: OCT, optical coherence tomography.


Fundoscopy and OCT after 3 months. . Notes: (A) Fundoscopy after 3 months suggests almost complete resolution of the retinal layers.


Fundoscopy and OCT after 3 months. (B) OCT findings after 3 months suggest almost complete resolution of the retinal layers edema with a small discontinuity in the inner and outer segments adjacent to the fovea. . Abbreviations: OCT, optical coherence tomography.


CT demonstrating absent left kidney, uterine duplication, suggestive of cervical duplication, and distension of the left cavity by hypodense material.


Pelvic MRI, transverse T2-weighted image, depicting a duplicated uterus and the presence of two endometrial cavities: right-sided cavity with 3.8 mm thickness and distended left cavity filled with hyperintense material.


Images obtained via hysteroscopy. A) Single and normal cervix on the right.


Images obtained via hysteroscopy. B) Absence of bulging on the left lateral wall of the vagina (dashed line) or its recess.


Images obtained via hysteroscopy. C) Ostium of the right uterine tube (dashed circle), without alterations.


Images obtained via hysteroscopy. D) Absence of ostium of the left uterine tube.


Laparoscopic hysteroscopy. Visualization of the larger left hemiuterus (left side of image) and right hemiuterus of smaller volume. Note the myometrial bridge connecting the two structures.


Left hemiuterus and uterine tube after laparoscopic resection.


Slit-lamp images of the 31-year-old proband's cornea, showing intraepithelial cysts in the periphery of the cornea sparing the central corneal epithelium, seen with both direct.


Indirect. Illumination.


The proband's 56-year-old mother.


35-year-old brother. Demonstrated diffuse intraepithelial corneal microcysts on retro-illumination.


Fourteen hours after initiation of terlipressin treatment skin purpuric lesions developed on the. Left arm.


Lower abdomen.


Breasts.


The evolution of skin lesions on the patient's left arm:. 24 h following initiation of terlipressin treatment.


36 h following treatment initiation.


Response to treatment in Case 1. Calcium levels in relationship to denosumab administration, and ,PRRT cycles in case 1.


Response to treatment in Case 1. Anterior view of 177Lu-LUTATHERA scintigraphy after I, II, and ,IV cycles of PRRT.


Response to treatment in Case 1. Posterior view of 177Lu-LUTATHERA scintigraphy after I, II, and IV cycles of PRRT.


Preoperative smile of case 1.


Incision marking with surgical pen.


Intraoperative photograph of incision.


Suturing of the right quadrant and incision of the left quadrant.


Immediate postoperative.


Sutures.


One-month follow-up.


Eighteen-month follow-up.


Preoperative smile of case 2.


Immediate postoperative of case 2.


Nine-month follow-up of patient.


Preoperative smile of case 3.


Twelve-month follow-up of case 3.


Twelve-lead electrocardiograms during VT (A). The VT manifests a left bundle branch block configuration and an inferior axis with a QS pattern in the v1 lead.


The Pace mapping from the RV of the RV-LV hinge point (B). The latter matches the clinical VT perfectly, with short pacing-QRS intervals (40 ms). Black lines are limb leads and blue lines are precordial leads. . Abbreviations: LV, left ventricle; RV, right ventricle; VT, ventricular tachycardia.


Focal aneurysm (arrow head) at the anterior left ventricle on echocardiography (A).


Transmural extension of delayed gadolinium enhancement (arrows) on cardiac magnetic resonance imaging (B).


Voltage maps showing a localized low voltage area in the left ventricular aneurysm in LAO. With RV).


RAO. Without RV) view.


The voltage maps of the successfully ablated site and ablation catheters in LAO.


RAO . Abbreviations: LAO, left anterior oblique; LV, left ventricle; LV ABL, left ventricular ablation catheter; RAO, right anterior oblique; RV, right ventricle; RV ABL, right ventricular ablation catheter.


SD-OCT images of the macular region. A; Macular hole before surgical treatment was performed.


SD-OCT images of the macular region. B; Macular hole which remained open after surgical treatment with a refractive particle lying on the retinal pigment epithelium layer.


Scanning electron microscope image of Tano diamond-dusted membrane scraper (Synergetics Inc. ) at x250 magnification. Notice how particles are partially stacked upon each other, decreasing the area of adhesion possible to the tip.


Preoperative picture of scalp swelling.


Intraoperative picture of mass excision.


Distinctive cytoplasmic membrane staining pattern with CD99 (x600).


27-year-old right-hand dominant female patient with a swelling on the proximal phalanx of her right 3rd finger diagnosed as Ewing's sarcoma. X-ray of the right hand AP view shows swelling of the soft tissue and increase in the density of the proximal phalanx of the 3rd finger (arrow).


27-year-old right-hand dominant female patient with a swelling on the proximal phalanx of her right 3rd finger diagnosed as Ewing's sarcoma. T1W coronal.


27-year-old right-hand dominant female patient with a swelling on the proximal phalanx of her right 3rd finger diagnosed as Ewing's sarcoma. T2W sagittal.


27-year-old right-hand dominant female patient with a swelling on the proximal phalanx of her right 3rd finger diagnosed as Ewing's sarcoma. T1W axial contrast enhanced images of the right hand 3rd finger, proximal phalanx palmar side, neighboring the flexor tendon, show a lesion hypointense on T1W (arrow), hyperintense on T2W (arrow), with contrast enhancement (solid arrow).


27-year-old right-hand dominant female patient with a swelling on the proximal phalanx of her right 3rd finger diagnosed as Ewing's sarcoma. Excised tissue stained with hematoxylin and eosin (x400) shows Ewing's sarcoma tumor cells in parts with clear appearance due to presence of glycogen (arrow).


(A,B) Patient with Klippel-Trenaunay syndrome. (A) The left leg was larger in circumference and longer in length than the right leg.


(A,B) Patient with Klippel-Trenaunay syndrome. (B) Capillary malformation in the left leg.


Unenhanced computer tomography (CT) showed peritoneal diffuse effusion in pelvis with different mixed attenuation values at the admission to our department.


Post-operative period.


Bluish purple ischemic discoloration of the second and fourth toes of the left foot consistent with blue toe syndrome.


Coronal maximum intensity projection (MIP) of lower extremity CT angiography ruling out any significant arterial stenosis.


Chest computed tomographic image demonstrating a filling defect adjacent to the interatrial septum (arrow).


3D reconstruction of the TEE image of the left side of the interatrial septum to visualize the sessile thrombus (arrows) adherent to the septum and arising from the left atrial septal pouch.


Follow-up TEE showing LASP opening into the left atrium with complete resolution of thrombus after 3 months of oral anticoagulation.


Agitated saline contrast imaging in a follow-up TEE with the bicaval view showing a LASP (arrow) and absence of an atrial septal defect both at rest.


With Valsalva maneuver.


Cortisol secretion on metoclopramide challenge at postoperative day 8. . Notes: Vertical axis indicates serum cortisol level. Horizontal axis indicates time course after metoclopramide administration. Numerical values are also shown with trajectory.


Time course of morning serum cortisol before and after left adrenalectomy. . Notes: Vertical axis indicates morning serum cortisol level. Horizontal axis indicates time course before and after left adrenalectomy (week 0). Three data points collected before surgery, and data collected at postoperative days 8, 72 and 109 are shown. Regimen of steroid coverage at day 8 was hydrocortisone 15 mg/day (10 and 5 mg after breakfast and dinner, respectively). Regimen of steroid coverage at days 72 and 109 was hydrocortisone 12.5 mg/day, 10 and 2.5 mg after breakfast and dinner, respectively. Numerical values are also shown with trajectory.


Renal angiography is showing right renal artery.


Renal angiography is showing left accessory renal artery.


Renal angiography is showing left renal artery.


Prominent nose with a bulbous tip, small mouth and eyes, ocular hypertelorism, and long face.


Similar phenotype - prominent nose with a bulbous tip, small mouth and eyes, ocular hypertelorism, and long face.


Erythematous plaque over the left tonsillar fossa and posterior pharyngeal wall.


Irregularly distributed vascular channels, low-power view (x10), hematoxylin and eosin stain.


Intraoral examination and imaging. (A) (to the left) The patient's oral cavity revealing multiple dental caries, and candida infection on her tongue.


Intraoral examination and imaging. (B) (to the right) Panoramic x-ray image of the patient's teeth.


High-arched palate in the patient.


Sagittal T1-weighted MRI brain image demonstrating severe atrophy affecting the cortex, brainstem, and cerebellum. There is resulting enlargement of the third and fourth ventricles.


Axial T2-weighted MRI brain image displaying cortical atrophy and consequent lateral ventricular enlargement as well as sulcal enlargement. Hyperostosis frontalis interna is also present.


Physical findings consistent with Cushing's syndrome:both new and progressive for the 6 months before diagnosis. (A) Easy bruisability.


Physical findings consistent with Cushing's syndrome:both new and progressive for the 6 months before diagnosis. (B) Buffalo hump.


(A) Endoscopic ultrasound of pancreatic mass.


(B) CT abdomen of the pancreatic mass, also demonstrating a concerning perihepatic lymph node that was proven positive on final pathology.


(C) PET-CT demonstrating mild PET avidity of the pancreatic mass. CT, computed tomography; PET-CT, positron emission technology-CT.


Sections contain a circumscribed high-grade neuroendocrine neoplasm with variable morphology, including areas of small monotonous cells with abundant eosinophilic or clear cytoplasm arranged in nests, cords, and trabeculae. Magnification 400 x.


Areas of monotonous cells with a higher nuclear:cytoplasmic ratio growing in sheets. Magnification 400 x ). The cells have round to oval nuclei with dispersed chromatin. There is no nuclear molding or large cells with abundant cytoplasm. Mitotic figures are frequent (B, arrows) with mitotic count of at least 27 mitoses per 10 high-power fields. Small patches of necrosis are present (<5% of tumor).


Immunohistochemical stain for Ki-67 demonstrates a proliferative index of 21% (C, magnification 400 x ). The overall features are those of a high-grade neuroendocrine carcinoma, but not those of a typical small cell carcinoma or large cell neuroendocrine carcinoma, which usually exhibit unique morphological features, as well as abundant necrosis and very high Ki-67 proliferative index. Based on AJCC TNM system eighth edition this tumor fits the criteria for a "well-differentiated neuroendocrine tumor grade 3.