A, b Color fundus photographs of left and right eye showing multiple glistening small yellow crystals scattered intravascularly and extravascularly within the posterior pole. D Adaptive optics images of the two yellow squares marked in the color fundus photographs in a,. Arrows point the clumps of talc particles seen in the color fundus photographs. Arrow heads point the tiny talc particles that could not be detected clinically. (1), (2) OCT scans corresponding to the 2 green lines in the color fundus photographs demonstrating the location of these talc crystals (hyper-reflective dots).


Genealogical tree.


Electropherogram of DNA sequence of the CAVIN1 gene showing a homozygous variant c.631G < T resulting in the p. E211X mutation (codon is underlined) in the patient.


52-year-old female with Von Hippel-Lindau syndrome. . Transaxial contrast enhanced CT (A) of abdomen show large (9.6 x 7.4 x 5.4 cm) mass lesion in region of body and tail of pancreas with intense post contrast enhancement (arrow). Multiple cysts of varying sizes are noted in rest of pancreas (asterix). Also, note tortuous blood vessels in peripancreatic and perisplenic location.


52-year-old female with Von Hippel-Lindau syndrome. Transaxial PET . Focal 68Ga-DOTANOC uptake (SUVmax = 13.2) was also seen in segment III of liver (B, C, broken arrow) suggesting liver metastasis from pancreatic NET. This was confirmed at fine needle aspiration cytology.


52-year-old female with Von Hippel-Lindau syndrome. PET-CT. Images show intense heterogeneous uptake of 68Ga-labelled [1, 4, 7, 10-tetraazacyclododecane-1, 4, 7, 10-tetraacetic acid]-1-Nal3-Octreotide (68Ga-DOTANOC) (SUVmax = 18.6) in pancreatic mass (arrow), thus confirming it to be NET. Focal 68Ga-DOTANOC uptake (SUVmax = 13.2) was also seen in segment III of liver (B, C, broken arrow) suggesting liver metastasis from pancreatic NET. This was confirmed at fine needle aspiration cytology.


52-year-old female with Von Hippel-Lindau syndrome. Transaxial contrast enhanced CT (D) of abdomen also shows another mass (7.8 x 5.8 x 5.1 cm) arising from interpolar region of left kidney and showing intense post contrast enhancement (arrow). Multiple feeding vessels are seen to arise from left renal artery and supply mass. These findings were suggestive of RCC. Also noted are bilateral multiple renal cortical cysts (asterix).


52-year-old female with Von Hippel-Lindau syndrome. PET.


52-year-old female with Von Hippel-Lindau syndrome. PET-CT. Images reveal mild 68Ga-DOTANOC uptake (SUVmax = 3.1) in renal mass (arrow).


52-year-old female with Von Hippel-Lindau syndrome. Transaxial PET.


52-year-old female with Von Hippel-Lindau syndrome. PET-CT. Images of brain show focal area of 68Ga-DOTANOC uptake (SUVmax = 9.9) in hypodense lesion (2 x 2 cm) in left cerebellum (arrow).


52-year-old female with Von Hippel-Lindau syndrome. Transaxial T2 weighted gadolinium enhanced MRI (I) of brain reveals nodular lesion in lateral half of left cerebellar hemisphere with intense post contrast enhancement (arrow), suggesting hemangioblastoma.


52-year-old female with Von Hippel-Lindau syndrome. PET-CT. Images also revealed focal 68Ga-DOTANOC uptake (SUVmax = 8.3) in lateral part of left globe, corresponding to heterogeneous nodular lesion (arrow).


52-year-old female with Von Hippel-Lindau syndrome. Transaxial T2 weighted gadolinium enhanced MRI (L) showed eccentric nodule in lateral part of left globe with intense post contrast enhancement, suggesting retinal hemangioblastoma (arrow).


(a) Sagittal T2-weighted FSE image in neutral position with evidence of posterior detachment of dural sac (arrow).


(b) Flexion sagittal T2-weighted FSE images confirming anterior displacement of the posterior dura from C4 to C7 levels with spinal cord flattening and prominence of the posterior epidural space (arrow).


(c) Sagittal contrast-enhanced T1-weighted FSE in flexion position with evidence of enhancement of the enlarged posterior epidural space (arrow).


Two-year MRI follow-up after surgery on neutral position. (a) Sagittal T2-TSE-weighted image depicting segmental spinal cord atrophy at C5-C6 level (arrows).


Two-year MRI follow-up after surgery on neutral position. (b) Axial T2-GRE- weighted acquisition at C5 level with evidence of bilateral medullary hyperintensity of the anterior horns.


Pretreatment fluorodeoxyglucose positron emission tomography and computed tomography scan (on the left) shows high-grade metabolic activity in both atrial walls, interatrial septum with extensive left atrial wall involvement, posttreatment scan (on the right) shows about 50% decrease in the metabolic activity along the right and left atrium.


The whole-body pretreatment maximum intensity projection image (on the left) and posttreatment maximum intensity projection image (on the right).


Erythematous rash over the left lower limb.


Twelve-lead electrocardiogram results. (A) The first electrocardiogram indicating ST-segment elevation in the II, III and aVF leads (0.5-0.7 mV) with ST-segment depression in the I and aVL leads (0.2-0.4 mV).


Twelve-lead electrocardiogram results. (B) The preoperative electrocardiogram (49 minutes after the first electrocardiogram) indicating ST-segment elevation in the II, III and aVF leads disappeared.


Magnetic resonance cholangiopancreatography showing diverticulum-like sacculi of intrahepatic bile ducts ectasias and communication with the biliary branches.


(A) Axial magnetic resonance imaging T1.


(B) T2 showing cystic dilatation of biliary ducts distributed diffusely in the liver parenchyma.


Sagittal MRI in T2 showing cystic dilatations of bile ducts.


49-year-old HIV-positive man presented with fever, malaise, and respiratory symptoms, subsequently diagnosed with HHV-8-associated CD. Axial and coronal contrast-enhanced CT images of the upper thorax. During current admission.


49-year-old HIV-positive man presented with fever, malaise, and respiratory symptoms, subsequently diagnosed with HHV-8-associated CD. 3 months earlier demonstrate interval enlargement of multiple mediastinal and axillary lymph nodes. An AP window lymph node and a left axillary lymph node (arrows) measure 1.9 cm and 1.5 cm in maximum short-axis diameters, respectively, in the current study, compared with 1.3 cm and 1.1 cm previously.


49-year-old HIV-positive man presented with fever, malaise, and respiratory symptoms, subsequently diagnosed with HHV-8-associated CD. Coronal contrast-enhanced CTs of the abdomen during. Current admission.


49-year-old HIV-positive man presented with fever, malaise, and respiratory symptoms, subsequently diagnosed with HHV-8-associated CD. 3 months earlier demonstrate interval enlargement of multiple retroperitoneal and inguinal lymph nodes. A left para-aortic lymph node and a left inguinal lymph node (arrows) measure 1.8 cm and 1.5 cm in maximum short-axis diameters, respectively, in the current study, compared with 1.3 cm and 1.2 cm previously.


49-year-old HIV-positive man presented with fever, malaise, and respiratory symptoms, subsequently diagnosed with HHV-8-associated CD. Axial contrast-enhanced CTs of the upper abdomen during. Current admission.


49-year-old HIV-positive man presented with fever, malaise, and respiratory symptoms, subsequently diagnosed with HHV-8-associated CD. 3 months earlier demonstrate interval enlargement of the spleen (arrows).


Pre-treatment frontal.


Lateral.


Views, panoramic radiograph.


Lateral cephalometric radiography.


Its corresponding
tracing.


Pre-treatment intraoral views of dental relations:. Right side.


Frontal.


Left side.


Occlusal view of maxillary dental arch.


Occlusal view of mandibular dental arch.


Orthodontic treatment of the mandibular dental arch by means of removable expansion appliance at the beginning of treatment.


After 7 months.


After 20 months.


Different stages and views of comprehensive orthodontic treatment by means of fixed appliances in both dental arches (A, B, C, D, E).


Post-treatment intraoral views of dental relations:. Right side.


With Essix R retainers in both dental arches.


Eighteen months after treatment: frontal.


Views, and dental relations right side.


Occlusal
view of maxillary dental arch.


(a) ECG shows sinus tachycardia with lowering and inverted T wave on leads II, III, and avF.


(b) Echo shows a dilated, poorly functioning left ventricle (EF 35.


(c) Echo shows a severe TR.


(a) V-A ECMO via neck cannulation with a 15-Fr cannula in the right atrium and a 12-Fr cannula in the right common carotid aorta.


(b) Chest X-ray post-ECMO.


GCTTS presenting in a young child. (A) Presence of a soft tissue mass along the third digit of left hand.


GCTTS presenting in a young child. (B) Hematoxylin and Eosin (H&E) staining of resected finger mass consistent with a diagnosis of GCTTS. Arrowheads indicate multinucleated giant cells.


Erythematous rash over the chest, abdomen.


Lower limb.


The first twelve-lead electrocardiogram indicated ST-segment elevation in leads II, III and aVF.


The postoperative electrocardiogram indicated ST-segment elevation in leads II, III and aVF disappeared.


The mutated sequence of NCCT polymerase chain reaction (PCR) fragment. The red circle indicates a homozygous c.2687 G > A mutation of exon 23 in SLC12A3 which led to p. Arg896Gln.


Histopathology of a Sweet's syndrome lesion. Closer views (A) of Sweet's syndrome lesions located on the upper arms are shown.


Histopathology of a Sweet's syndrome lesion. The biopsy specimen (B) shows a confluent neutrophilic infiltrate in the reticular dermis and edema in the papillary dermis (hematoxylin and eosin staining).


Bone marrow aspiration at diagnosis (A,B). Hypocellular bone marrow with 14% blasts and dysplasia in all cell lineages (May-Giemsa).


These images detailing of the preparation and incisional marking. The lesion's sheer size can be appreciated.


Fournier's gangrene after surgical debridement of the necrotic tissue around scrotum and suprapubic cystostomy.


Cardiac MRT before initiation of treatment.


Cardiac MRT in peripheral euthyroid state.


Gross pathological, histological and immunohistochemical findings. (a) Gross pathology revealed a 61 x 27 x 8 mm golden-yellow adenoma, which was connected to the right adrenal gland. (b) Hematoxylin-eosin staining, C: Normal adrenal cortex, M: Adrenal medulla; APA: Aldosterone-producing adenoma. (c) Immunohistochemical staining with CYP11B2.


(A) Chest radiograph on the day of admission revealed pulmonary congestion bilateral, cardiothoracic ratio of 60%, and implanted pace maker.


(B) Computed tomography of the abdomen demonstrated high density throughout the liver and dilation of the hepatic veins and inferior vena cava.


X-ray showed atelectasis of almost the whole left lung superior lobe and obstruction of the bronchus leading to the third segment of the left lung.


Computed tomography indicated a soft tissue lesion in the bronchus.


Bronchoscopy revealed pathological mass filling the left main bronchus.


Inactivation properties of WT Nav1.5 and Nav1.5-F1571L alone or co-expressed with beta1. (A) Displayed from left to right are the representative whole-cell inactivation recordings of WT Nav1.5 + beta1 and Nav1.5-F1571L + beta1. The INa were elicited with the pulse protocol shown underneath the traces.


Inactivation properties of WT Nav1.5 and Nav1.5-F1571L alone or co-expressed with beta1. (B) The time constants of channel inactivation for WT Nav1.5 (black circles, n = 5), WT Nav1.5 + beta1 (gray circles, n = 12), Nav1.5-F1571L (full red inverted triangles, n = 9), and Nav1.5-F1571L + beta1 (open red inverted triangles, n = 12). The values shown are means +- SEM.


Inactivation properties of WT Nav1.5 and Nav1.5-F1571L alone or co-expressed with beta1. (C) Voltage dependence of channel inactivation obtained by plotting the normalized current amplitudes at -10 mV, elicited after 500 ms of conditioning pre-pulse depolarization, as a function of the pre-pulse potential.


Inactivation properties of WT Nav1.5 and Nav1.5-F1571L alone or co-expressed with beta1. (D) Displayed from left to right are the representative whole-cell recordings of recovery from inactivation of WT Nav1.5 + beta1 and Nav1.5-F1571L + beta1. The protocol used is shown underneath the traces.


Inactivation properties of WT Nav1.5 and Nav1.5-F1571L alone or co-expressed with beta1. (E) Graph representing the recovery from inactivation, sampled after 500 ms from induction of inactivation.


Three-dimensional computed tomography showing ossifying mass abutting anterior border of the mandible.


Magnetic resonance imaging showing mild edema surrounding left masseter and heterotopic bone formation.


Postoperative lower extremities X-ray showing heterotopic bone with branching tree pattern.


Trismus and nil mouth opening.


Scar mark of previous surgery and nonbending of leg also bony exostosis seen near ankle.


Microdactyly of the great toe on both the feet.


Total cystectomy tissue sample. Hematoxylin and eosin staining.


Total cystectomy tissue sample. And immunohistochemical staining with the anti-hCG antibody Positive staining of the tumor cells was detected (indicated by arrowhead).


Multi loculated hypoechoic collections arising from right thyroid lobe extending into the isthmus.


Largest hypoechoic collection occupying the right lobe.


(A) Multi loculated hypodense rim enhancing collection at right thyroid bed, trachea deviated to the left.


Left thyroid gland appears normal; (B) Collection extends posterosuperiorly into the prevertebral space.


Palatal perforation and Hutchinson's teeth.


A; Nodules on the dorsum of the foot (blue arrows) before treatment with intralesional doxorubicin.


B; The same lesions (red arrows) 2 weeks after the first injection with intralesional doxorubicin.


C; After over a year from the beginning of treatment, only some minimal scarring (yellow arrow) was identifiable.


Ureteral catheter was inserted through an opening in utriculus.


Both testes, epididymis, spermatic cords, vessels, and rudimentary structures were seen in right side inguinal exploration.


Axial postcontrast computed tomography image showing the right quadrigeminal plate lipoma (arrows).


Left parasagittal computed tomography image depicting the atrophy of subcutaneous tissues in the left frontoparietal location (white arrowheads).


Volume rendered computed tomography image in soft tissue preset showing the diagonal pattern of soft tissue atrophy in the forehead (arrows).


Computed tomography image in bone window showing the depressed left supraorbital ridge and frontal bone (arrows).


Puncture sites of left tips of fingers with right being clean.


Characteristic features of Patient 1.


Patient 2 with representative phenotype.


Magnetic resonance imaging of the left orbit 2 months.


5 months. After treatment completion. The tumor is less enhancing than pre-treatment, its size is stable to slightly decreased, and "tram-tracking" is more apparent.


Color photograph showing an injured eye at initial presentation.


During surgical removal of a shank hook in the operating room.


After complete removal of the fishhook.


D; Appearance of the double prong fishhook causing the injury.


Color photograph showing anterior segment findings following the primary operation.


Color photograph at 10-month follow-up showing anterior segment.


Fundus finding.


Lesions on the face patient wincing due to pain.


Lesions of similar morphology on lower extremity.


Back of trunk showing total sparing.


Initial and follow-up FDG PET/CT: (A) Initial FDG-MIP with multiple hypermetabolic lesions in the upper lobe of the right lung, in mediastinal, hilar and upper mesenteric lymph nodes and at the left pleura. Increased turnover of the bone marrow.


(B) Initial fusion FDG-PET/CT axial slice with pathologic high FDG-uptake in the left pleura, upper mesenteric lymph nodes, and bone marrow. Normal presentation of liver, spleen, and stomach.


(C) Follow-up FDG-MIP after 4 months on pembrolizumab shows a generally reduced metabolism at all tumor locations. Normalization of the bone marrow turnover. Due to newly incipient traumatic injury at the left shoulder the patient could not lift up the left arm.


(D) Fusion FDG-PET/CT axial slice after 4 months on pembrolizumab with residual FDG-uptake at the left pleura and in upper mesenteric lymph nodes. Normal presentation of the bone marrow.


(E) Follow-up FDG-MIP after 11 months on pembrolizumab shows further regression of lesions in the upper lobe of the right lung as well as in mediastinal, hilar, and upper mesenteric lymph nodes (the focal lesions in the left mediastinum and supraclavicular right represent the central venous catheter). Residual focal FDG-Uptake in the left pleura. Normal turnover of the bone marrow.


(F) Fusion FDG-PET/CT axial slice after 11 months on pembrolizumab with only little elevated FDG-uptake in the left pleura. The formerly upper mesenteric lymph node is healed up. Normal presentation of liver, spleen, stomach, and bone marrow.


Histomorphological and immunohistochemical analysis of parietal pleura, biopsy from 2018:. H & E staining.


Immunostaining for CD5.


Immunostaining for CD117.


Immunostaining for PD-L1.


Histomorphological and immunohistochemical analysis of parotid, tumor excisate from 2008:. H & E staining.


Histology with low-grade chronic and floride tubulointerstitial nephritis. Diffuse interstitial infiltrates (arrow). Acute tubulus damage is light to moderate and potentially reversible. * tubular lumen.


Timeline showing the chronological order of symptoms, diagnoses, and treatment. BGA, blood gas analysis; MRI, magnetic resonance imaging.


Medical image.


Craniofacial dysmorphism.


Polydactyly (C) MTS in brain MRI.


DNA electrophoregram with the c.535C >G in exon8 and c.853G>T in exon11.


Pedigree of the family.


Horizontal CT-scan.


Coronal CT-scan.


Topography of the bone.


Macroscopic view of mandibulectomy.


Microscopic view of the lesion with H, and ,E staining x400.


Necrosis.


adrenal CT scan, tumor mass at the right adrenal, measuring 46 x 36mm, the left adrenal was not hyperplastic.


aseptic necrosis of the hip on radiographs.


Diffuse induration of the left leg studded with violaceous-to-hyperpigmented papules coalescing to form plaques.


Scattered violaceous oval plaques in the left thigh.


Hard palate showing bluish-red plaque.


Nonpolarized dermoscopy showing bluish-red discoloration.


Clinical aspect of extensive extramammary invasive Pagetaes disease with involvement of groins scrotum and perineum.


Surgical situs after Mohs surgery.


The excised tumor.


Mesh-graft split skin transplantation after induction of granulation by topical CO2.


CECT scan of chest showing bilateral diffuse ground glass opacities.


Chest CT image on initial presentation (10 years before the onset of Budd-Chiari syndrome) showing an anterior mediastinal tumor mass with a low-density area. The pathological diagnosis was invasive thymoma (type B2). She underwent systemic chemotherapy (CAMP therapy) followed by total thymectomy at that time. CT, computed tomography.


Abdominal CT image on the first visit to our hospital showing a large right hepatic mass of irregular density with indistinct borders. Abundant ascites was also detected.


Computed tomography (plain) of the brain at presentation showing the hemorrhagic lesion in the third ventricle obstructing the foramen of Monro, and ,causing hydrocephalus.


Magnetic resonance imaging demonstrating [ T1-weighted axial.


T2-weighted sagittal.


Susceptibility-weighted Imaging (SWI) axial.


Contrast-enhanced T1-weighted axial.


Contrast-enhanced T2-weighted sagittal images] a pituitary macroadenoma with suprasellar extension with evidence of apoplectic change.


Magnetic resonance imaging [ contrast-enhanced T1-weighted coronal.


Contrast-enhanced T2-weighted sagittal images] at 6-month follow-up exhibiting near total resection of the pituitary adenoma.


Erythema in palms accompanied by intense Raynaud's phenomenon.


Magnetic resonance coronary angiography in a Whole-Heart iPAT sequence in a short axis view. Red Arrow: normal proximal right coronary artery 3 mm (z-score + 054), with dilated mid right coronary artery 6 mm (z-score + 7.35) and dilated distal right coronary artery 6 mm (z-score + 8.07). Ao, aorta; RA, Right atrium; LA, Left atrium (Courtesy of Dr. Roberto Cano).


Chiari's network in the right atrium and interatrial septum patent foramen ovale.


Clinical picture shows right sided tibia vara.


X-ray shows depression of medial tibial plateau with beaking of posteromedial tibial metaphysis.


MRI (coronal PD fat sat image) shows wedge shaped medial epiphysis and deformed physis with altered signal intensity.


In-operative picture shows the osteotomy site and post-operative X-rays.


In-operative picture shows the osteotomy site and post-operative X-rays. Close-up view of correction of deformity by Z osteotomy and stabilization with 2 K wires.


In-operative picture shows the osteotomy site and post-operative X-rays. Varus deformity is corrected to normal alignment,
c.


In-operative picture shows the osteotomy site and post-operative X-rays. Immediate post-operative X-ray anterior posterior view,
d. Immediate post-operative X-ray lateral view.


Identification of sequence variation in ABCC8. Partial sequence of PCR product. Patient has heterozygous for a novel ABCC8 missense mutation, p. Thr1381Asn. The threonine residue at codon 1381 is moderately conserved across species and mutation testing in patient's parents has shown that the p. Thr1381Asn mutation has arisen de novo.


Fine-needle aspiration cytology of the axillary lymph node was diagnostic for Diffuse Large B Cell Lymphoma. [A] FNAC of the nodule showing intermediate-to-large sized cells with prominent central nucleoli and numerous apoptotic bodies (Papanicolaou stain, x400). [B] Cell block preparation from the aspirated material showing similar cellular features (Hematoxylin & Eosin stain, x400). The tumor cells were positive for CD 20 [C] and had a high Ki-67 [D] labelling index (Immunoperoxidase stain, x400).


EKG at the initial encounter (Type 2 BrS EKG).


EKG at the current encounter (Type 1 BrS EKG).


First electrocardiogram and echocardiogram after the onset of the clinical manifestations (A). The electrocardiogram shows sinus rhythm with 100 rpm, PR 0.14 s, QRS 0.08 s, QT/QTc 320/422 ms and diffuse alterations in ventricular repolarization with negative T waves in precordial leads (V4-V6), D2, D3 and aVF (B1-B4). The echocardiogram shows a diffusely hypokinetic left ventricle with an ejection fraction of 34%. Left ventricular inner dimension diastole 50 mm (Z score +2.3), left ventricular inner dimension systole 39 mm (Z score +4.25), left posterior ventricular wall diastole 6.6 mm (Z score -0.23), interventricular septum diastole 5.5 mm (Z score -1.22), right ventricular inner dimension diastole 14 mm (Z score +0.20) [Z score is derived from Kampman et al. ] (B1,B2). Moderate mitral valve regurgitation (left ventricular delta Pressure/delta Time 699 mmHg/s) (B3). Left and right coronary artery originating from left and right Valsalva sinus, respectively (B4).


(A) Cardiac contrast-enhancement magnetic resonance imaging demonstrates an increase of T2 signal on anterior left ventricular wall. (B1-B4) Coronary computed tomography reveals a right dominant coronary artery (B1), left common trunk coronary artery (B2), left circumflex coronary artery (B3) and left anterior descending (LAD) coronary artery (B4) without any dissection, lumen obstruction or anatomical variants. A tract of LAD coronary artery runs through the width of the myocardial wall for 12.3 mm and with a parietal thickness of 1.4 mm (B4).


Blink reflexes of the patient following paired-pulse stimulation with different interstimulus intervals:. 160 ms.


300 ms.


500 ms.


1,000 ms. Note the lack of inhibition of the R2 component of the conditioned blink reflex to the second stimulus, normally induced by the first test stimulus.


EMG responses in relaxed first dorsal interosseus muscle to paired-pulse transcranial magnetic stimulation at different interstimuslus intervals (ISIs) in the patient (black line) and in five controls (gray line). At each ISI, the size of the conditioned response is expressed as a percentage of the size of the control response (to test stimulus alone).


The primitive neuroectodermal tumor with strong immunoreactivity for CD99, vimentin, and CK5 markers.


The primitive neuroectodermal tumor with strong immunoreactivity for CD99.


Sagittal.


Axial T2-weighted MR images. At the level of the upper cervical cord demonstrate narrowing of the spinal canal due to massive ossification of the posterior longitudinal ligament (white arrows) with cord compression and myelopathy.


Magnetic resonance imaging showed peripherally enhancing lesions in right fronto-parietal and left fronto-temporo-parieto-occipital region involving grey and white matter, subcortical region and corpus callosum; acute disseminated encephalomyelitis.


(a and b) Visual evoked potential suggestive of bilateral optic neuritis.


Clinical photographs.


Intraoral Photograph. Of patient.


OPG showing multiple cystic lesions, three in maxilla and four in mandible.


Chest X-ray showing fusion of 3rd and 4th ribs on left side.


Ki 67 immunopositive.


High-power view of a section of the terminal ileum, demonstrating active ileitis. Findings are indicative of acute ileitis, but non-specific for Crohn's disease.


Endoscopic examination of the ileum, demonstrating mucosal edema and erythema with multiple aphthoid ulcers.


Medium-power view of a section of the terminal ileum, demonstrating active ileitis with signs of chronicity, including crypt architectural distortion and pyloric gland metaplasia. These findings, in combination with the patient's clinical picture, are strongly suggestive of Crohn's disease.


Anterior segment photo of the right.


Left eye. In undilated pupil.


Retroillumination view under mydriasis of the right eye. Showing ectopia lentis with lens coloboma (arrow).


The left eye. Showing ectopia lentis with lens coloboma and stretched zonules (arrow).


Posterior segment photograph of the right.


Left. Eye showing pigmentary changes at the fovea.


Chest radiographic and computed tomography (CT) findings. (A) Chest radiograph showed consolidation in the entire right lower lung field.


Chest radiographic and computed tomography (CT) findings. (B) CT of the chest demonstrated lobar consolidation of the right lower lobe, accompanied by patchy consolidation in the right middle and left upper lobe.


Clinical photograph of patient showing midline neck swelling below hyoid and above the level of normal thyroid gland.


Transverse USG neck image showing echogenic ectopic thyroid with internal vascularity anterior to larynx.


Axial CT neck image showing normally located left lobe of thyroid (arrow) with non-visualisation of isthmus and right lobe.


Sagittal CT neck image showing two enhancing ectopic thyroid tissue in prehyoid (arrowhead) and infrahyoid (arrow) locations in midline neck.


99m Tc pertechnetate thyroid scan shows two focal areas of radiotracer uptake in midline neck with no evidence of uptake in normal thyroid bed.


Frond-like structures with a vascular core making pseudopapillary pattern of growth Follicle-like spaces with variability in size and content, Distinct cytologic features; polygonal cells with clear cytoplasm and round to angulated nuclei with prominent 1-2 nucleoli.


Immunoreactivity with CD117, PLAP and CK AE1/AE3.


Facial characteristics. (A) Image of the patient where microphthalmia and eversion of the lateral third of the eyelid are observed.


Facial characteristics. (B) Image of the patient with arched eyebrows, long palpebral fissures and wide nasal bridge, facial characteristics of kabuki syndrome.


Facial characteristics. (C) Patient's whole face image shows the dysmorphic characteristics previously described.


Alopecia universalis.


Grouped fasciculations.


Continuous motor unit activity observed from thoracic paraspinal muscle.


Selected endocrine parameters from initial diagnosis of adrenal Cushing's syndrome until recovery after transsphenoidal surgery for Cushing's disease. Course of. Plasma ACTH.


Selected endocrine parameters from initial diagnosis of adrenal Cushing's syndrome until recovery after transsphenoidal surgery for Cushing's disease. Serum cortisol during the 1 mg dexamethasone suppression test.


Selected endocrine parameters from initial diagnosis of adrenal Cushing's syndrome until recovery after transsphenoidal surgery for Cushing's disease. Late-night salivary cortisol.


Selected endocrine parameters from initial diagnosis of adrenal Cushing's syndrome until recovery after transsphenoidal surgery for Cushing's disease. 24-hour urinary free cortisol. The time of adrenalectomy (in February 2015) and transsphenoidal adenomectomy (in June 2019) are illustrated with vertical broken bars. The reference range of each test is shown as a grey area. ACTH, adrenocorticotropin hormone; ADX, adrenalectomy; FU, follow up; TSS, transsphenoidal surgery.


Sellar magnetic resonance imaging (MRI) performed in April 2019 and histological analysis of the pituitary adenoma. Coronal.


Sellar magnetic resonance imaging (MRI) performed in April 2019 and histological analysis of the pituitary adenoma. Sagittal contrast-enhanced T1-weighted sellar magnetic resonance imaging. The white arrows indicate a hypointense focal lesion of 0.5 x 0.4 x 0.4 cm in the dorsal part of the adenohypophysis, reaching to the right side of the gland. This lesion was radiologically regarded as compatible with a microadenoma.


Sellar magnetic resonance imaging (MRI) performed in April 2019 and histological analysis of the pituitary adenoma. (C, D) hematoxylin and eosin staining of the ACTH-secreting pituitary adenoma with: fragmented parts of a good differentiated epithelial tumor; cells present with medium size and oval nuclei (with an interspersed chromatin structure); occasional detection of nucleoli; no evidence of high mitotic activity; cytoplasm predominantly chromophobe.


Picture of the patient at the end of hospitalization. A; Ptosis and miosis of the left eye.


Picture of the patient at the end of hospitalization. B; A slight left-sided deviation of the tongue when protruded out of the mouth.


Vascular MRI studies of the patient. A; Vascular MRI performed at the beginning of the hospitalization: it clearly shows the dissection with the pseudoaneurysm of the left internal carotid vessel.


Vascular MRI studies of the patient. B; Vascular MRI performed 2 months after onset of the symptoms: the lesion of the left ICA has decreased significantly.


T2-weighted magnetic resonance imaging: The high intensity of the surface and subcapsule of the liver was revealed. Axial.


Coronal).


Clinical aspects. Lip swelling and healing blister upon presentation.


Lower lip biopsy.


Total lipoatrophy of extremities, and ,gluteal area.


Two dimensional echocardiography revealed left ventricular hypertrophy (interventricular septum thickness 20 mm).


DXA showed increased fat tissue of the abdominal region and decreased fat mass of the upper and lower limbs.


Follow-up DXA indicated unchanged total fat mass content, (D) The abdominal MRI image shows hepatic steatosis.


Changes in. HbA1C.


Triglycerides during metreleptin treatment. HbA1C, Glycated hemoglobin.


Anteroposterior view chest X-ray showing a space-occupying lesion in the left lower hemithorax with a significantly raised left hemidiaphragm.


Capillary blood glucose follow-up at 12-hour intervals in response to dextrose infusion and glucocorticoid therapy (Dexamethasone 8mg daily). Dotted line indicates capillary blood glucose value at lower end of normal (70 mg/dl).


Brain computed tomography images. (A) Brain computed tomography (axial image) depicting under-development of the bone structure on the left side of the face compared with the right, including the nasal bone, nasal septum, sphenoid bones, and ethmoid bones.


Brain computed tomography images. (B) A three-dimensional image of the brain depicting atrophy of the orbit, zygomatic bone, and teeth on the left side.


Magnetic resonance images. (A-C) T2-weighted fluid-attenuated inversion recovery images of the brain depicting diffuse hyperintensity signals in the left cerebrum.


Magnetic resonance images. (D) Gadolinium enhanced T1-weighted image showing no enhancement of the lesion.


Magnetic resonance images. (E) Hydrogen magnetic resonance spectroscopy image of a lesion in the left cerebrum, including a decreased choline peak (arrow).


Magnetic resonance images. (F) Magnetic resonance image of the legs revealing muscular atrophy of the right leg, particularly the vastus medialis (thick white arrow), vastus intermedius (thick red arrow), sartorius (thin white arrow) and biceps femoris (thin red arrow).


Intraoperative fluoroscopy utilizing MIS retractor (a) K-wire targeting involved disc level (b) Serial dilators were docked onto the facet complex (c) A tubular dilator was used, which was angled rostral (d) and caudal (e) to access the extent of tumor.


Preoperative. Sagittal.


Axial T1.


Sagittal.


Axial T2 MRIs reveal diffuse lumbar metastatic disease, L1 vertebral expansivity causing near complete canal occlusion, and left-sided L1 and L2 foraminal impingement from an epidural mass.


Postoperative T1-weighted. Sagittal.


Axial.


T2-weighted. Sagittal.


Axial MRI reveal interval surgery at L1-L2 resulting in decompression of the spinal canal.


Laparoscopic view of. "violin-string" adhesions.


Left hydrosalpinx, and ,free peritoneal fluid.


Lysis of adhesions.


Preoperative panoramic radiograph showed distal osteorarefaction at the second right lower molar.


Preoperative three-dimensional cone beam computed tomography of mandible showing destructive lesion.


Preoperative coronal sections on contrast enhanced computed tomography revealed a heterogeneous, soft tissue expansile mass with hyperdense calcification in the right jaw.


Surgical enucleation of the lesion.


Histological image shows fibrous wall of cysts covered by multi-layered squamous epithelium in which partially calcified oval structures are found. The presence of aggregates of eosinophilic ghost cells with large areas of dysplastic dentin.


Postoperative panoramic radiograph evaluation after 1 year.


Preoperative image showed penile shaft edema, without skin breaks, normal glans and blackish discoloration of the penis.


Intraoperative image demonstrating penile debridement after degloving of the penis.


Penile reconstruction with a meshed unexpanded split-thickness skin graft.


Penile form after 4 weeks of skin graft.


Preoperative extraoral.


Preopertaive intraoral.


Intraoperative facial nerve.


Postoperative intact facial nerve function.


Normal findings of brain/spinal MRI. And T2.


Normal findings of brain/spinal MRI. MRI brain scan T1.


Normal findings of brain/spinal MRI. , MRI spine sagittal.


Ocular edema with flamed shaped hemorrhages OD.


Medical image.


Gradual improvement after treatment OD.


Normal findings of brain CT scan: CT brain scan without/with intravenous contrast dye administration (A,B).


Pedigree presenting VHL gene mutation status and malignancy. Both brothers were diagnosed with renal cell carcinoma (RCC) with VHL gene mutation and one of his sons was confirmed VHL mutation without clinical manifestation.


(A) Spine magnetic resonance imaging showed multiple enhancing nodular lesions of the spinal canal suspected leptomeningeal metastasis of unknown primary malignancy.


Positron emission tomography computed tomography whole body scan showed a 3-cm enhancing heterogenous mass in the right kidney (arrow).


Focal mural thickening with intense fludeoxyglucose uptake in the sigmoid colon.


Polymerase chain reaction sequencing analysis of von Hippel-Lindau (VHL) gene showed a p. Glu70Lys (c.208G > A)
mutation in exon 1, confirming the diagnosis of VHL disease.


Brain magnetic resonance imaging showed three enhancing lesions (arrows) in bilateral cerebellar hemispheres.


Left cerebellar tonsil , suggesting hemangioblastomas. N.


Abdomen-pelvic computed tomography scan showed newly developed hepatic metastasis in S6.


An enlarged aortocaval lymph node (arrow) n.


The renal biopsy findings. . Notes: A light micrograph (A) shows the glomerulus accompanied by the slight expansion of the mesangial matrices with mesangial cell proliferation (Periodic acid-Schiff staining).


The renal biopsy findings. Immunofluorescence microscopy (B) shows granular staining for IgA limited to the mesangium. The scale bar is indicated in each panel. . Abbreviation: Ig, immunoglobulin.


CT Cervical spine demonstrating a large ossified bony bar extending from the posterior surface of the C4 vertebral body up to the level of the upper surface of the C3 vertebral body. . There are also multiple areas of calcification involving the intravertebral discs, annulus fibrosis, the ligmentum flavum and the transverse ligament behind the odontoid process.


Multiple, firm, discrete, dome-shaped, skin-colored, follicular papules seen over the pubic area and labia majora with few areas of oozing and crusting.


Skin biopsy taken from the lesions showed features of spongiotic dermatitis with periadnexal and perivascular lymphocytic infiltrate.


Renal biopsy with Congo-Red stain revealing orange-red deposits in all 34 glomeruli and vascular walls.


Thoracic x-ray showing hyperostosis at the proximal extremities of the clavicles and in some sterno-costal joints.


External photos of the patient. (a) Ptosis of the left upper eyelid.


External photos of the patient. (b) Elevation of the ptotic eyelid with mouth opening, esotropia and hypotropia in the left eye.


Fundus photos of both eyes. (a) Healthy retina and optic disc in the right eye.


Fundus photos of both eyes. (b) Morning glory disc anomaly in the left eye.


Cone beam computed tomography. Three-dimensional reconstruction.


Coronal cut.


Axial cut.


Axial cut showing the exact calculation thickness of 7.28 mm.


Extraoral drainage.


Penrose drain.


Sutured surgical site.


Medical image.


Follow-up after 6 months showing complete resolution of the infection. With minimal scarring.


Abdominal CT scan showing a dilated stomach and a calcified stone impacted in the second portion of duodenum.


Gallstone impacted in the duodenum measuring 7 x 3.5 cm.


Abdominal CT scan showing a subtotal stenosis of the lumen of the second duodenal portion.


Upper endoscopy demonstrates a large, round, smooth mass occupying alomst the entire duodenal lumen.


(a) Gastrotomy at the antrum.


(b) Extraction of the gallstone from the stomach.


A renal EWS/PNET in a 19-year-old male with right flank pain. . Notes: (A) An unenhanced CT image shows a huge mass in the right kidney with heterogeneous attenuation.


A renal EWS/PNET in a 19-year-old male with right flank pain. (B) A venous phase CT image shows heterogeneous subtle enhancement of the mass and a dilated left renal vein with thrombosis.


A renal EWS/PNET in a 19-year-old male with right flank pain. (C) An excretory phase CT image shows multiple septum-like structures in the mass.


A renal EWS/PNET in a 19-year-old male with right flank pain. (D) A sagittal-reformatted image shows the lobulated contour of the mass and extension of the thrombosis in the IVC.


A renal EWS/PNET in a 19-year-old male with right flank pain. Ultrasound.


A renal EWS/PNET in a 19-year-old male with right flank pain. Doppler. Images show an ill-defined heterogenous hypoechoic mass with moderate vascularity in the right kidney with extension of the tumor into the IVC. . Abbreviations: CT, computed tomography; EWS/PNET, Ewing's sarcoma/primary neuroectodermal tumor; IVC, inferior vena cava.


A 43-year-old male with abdominal mass. . Notes: (A) An unenhanced CT image shows a large mass in the left kidney with hemorrhage.


A 43-year-old male with abdominal mass. (B) A contrast-enhanced CT image shows a thrombus in the left renal vein.


A 43-year-old male with abdominal mass. (C) A sagittal-reformatted image shows the enlargement of the aortocaval lymph node compressing the artery.


A 43-year-old male with abdominal mass. (D) A lung window setting shows the presence of metastatic lung nodules.


A 43-year-old male with abdominal mass. (E) A photograph of a gross specimen shows a white and gray mass with hemorrhage and necrosis.


A 43-year-old male with abdominal mass. (F) A Doppler image shows an ill-defined heterogenous hyperechoic mass with a little vascularity in the left kidney. . Abbreviation: CT, computed tomography.


Hematoxylin and eosin stain demonstrates a malignant, monotonous population of small round blue cells (original magnification: x200).


Strong membranous expression of CD99 (original magnification: x200).


Computed tomography image of abdominal wall lesion. Sections were taken at 5 mm intervals. Image 31 of series #2 shows greatest dimensions of lesion as well as its homogenous nature.


Core biopsy. (a) This core biopsy slide shows amorphous eosinophilic dense material (H and E, x20). (b) The material is homogeneous and red with Congo stain (Congo, x20). (c) The core biopsy shows apple green/yellow birefringence (Congo, under polarized light, x40).


Facial features and limb malformations of the fetus in case 1. A 28-year-old Chinese woman was referred for prenatal diagnosis at 16 weeks of gestation due to fetal nuchal translucency (NT) thickening (A).


Facial features and limb malformations of the fetus in case 1. The pregnancy was terminated at 20 weeks, and autopsy showed distinct facial features . Limb defects.


Facial features and limb malformations of the fetus in case 1. The pregnancy was terminated at 20 weeks, and autopsy showed distinct facial features.


Facial features and limb malformations of the fetus in case 1. Limb defects.


Facial features and limb malformations of the fetus in case 1. . In the fetus as indicated by the arrows.


Clinical features of the proband and Sanger sequencing results in case 3. The proband.


Clinical features of the proband and Sanger sequencing results in case 3. II: 1) presented with typical facial features of Cornelia de Lange syndrome (CdLS) and upper limber defects.


Clinical features of the proband and Sanger sequencing results in case 3. The (F) panel shows the Sanger sequencing results of NIPBL c.448dupA mutation in the family.


Intraoperative picture shows the PV to IVC shunt.


Intraoperative picture shows the ligated shunt.


Preoperative computed tomographic angiography and diffusion-perfusion images. (a) Disappeared right internal carotid artery flow near clinoid segment.


Preoperative computed tomographic angiography and diffusion-perfusion images. (b) No definite acute infarction in the diffusion weighted magnetic resonance study.


Preoperative computed tomographic angiography and diffusion-perfusion images. (c) Severe perfusion delays were identified on whole right internal carotid artery territory.


Postoperative conventional angiography. (a) AP view.


Postoperative conventional angiography. (b) Lateral view. Complete restoration of whole right internal carotid artery flow.


Areolae of a 38-year old woman with hyperkeratotic, dark brown plaques.


No pathological effloresces after treatment with 70% isopropyl alcohol.


Atrophic morphology of the adrenal glands in contrast CT imaging.


Plain abdominal film showed intestinal obstruction (air-fluid levels), and ,pneumobilia (shown with arrow).


Barium follow through after 6 h showed intestinal obstruction, and ,pneumobilia (shown with arrow).


Barium follow through after 12 h showed Rigler's triad: Pneumobilia (shown with arrow), intestinal obstruction (air-barium levels), and ectopic gallstone (shown with 4 arrows).


Intraoperative findings,. The gallstone is located.


Enterolithotomy.


Extracted gallstone,. The "stone on a suture.


The gallstone is fragmented.


Nonabsorbable polypropylene suture making the frame of the gallstone.


Head MRI findings. There was no tumor in the pituitary gland (white arrow).


A; Coronal section of the CT chest showing right lower lobe mass abutting adjacent lung, mediastinum and diaphragm below.


B; Gross appearance of the mass (>15 cm) post resection.


Diffuse enlargement and ulceration of labial gingiva.


Enlargement and ulceration of palatal mucosa.


Intra oral peri apical radiograph.


Clinical picture of the patient showing a massive, fungating mass over the left upper back.


T2-weighted magnetic resonance imaging images showing the extent of the lesion. Coronal section.


T2-weighted magnetic resonance imaging images showing the extent of the lesion. Axial section.


Plain radiograph of the left shoulder region.


Gross image of the resected specimen.


Clinical picture on 15-month follow-up.


Left picture shows the frontal view of the patient showing microcephaly, prominent nose (wide bridge, broad root, columella under ala nasi), Middle picture shows Oligodontia, Right picture shows the Generalized brachydactyly (A written consent was obtained from the patient's parents to publish this image).


Enhanced magnetic resonance imaging (MRI) of the patient's head: (A) Coronal view of the gadolinium-enhanced T1-weighted image showing a spherical enhancing mass in the right frontal convexity and a dural tail sign. A round low-intensity lesion can be seen on the right side of the pituitary gland, and the pituitary stalk is displaced to the right.


(B) Sagittal T1-weighted sequence with contrast showing the degree of enhancement is lower than that of the pituitary in the sellar region.


(A) Histopathologic examination revealed a pituitary adenoma (Hematoxylin and eosin staining, 100x).


(B) Histopathologic examination revealed a meningioma (Hematoxylin and eosin staining, 100x).


Abdominal appearance with striae. Preoperation.


4 months postoperation.


Myometrium.


Testis with absent spermatogenesis.


Patient's karyotype - normal male - 46 XY.


LE Fundus: double hemorrhagic level and hematoma in the macular area.


RE Fundus: normal aspect.


LE Fundus: normal aspect.


Photomicrographs of explanted cardiac myocardium.


Ultrasound showed a solid hypoechoic and irregularly shaped nodule 13 x 8 x 9 mm in size with microcalcifications, a taller-than-wide shape and suspicious extracapsular extension located in the upper pole of the right thyroid gland. Transverse view.


Ultrasound showed a solid hypoechoic and irregularly shaped nodule 13 x 8 x 9 mm in size with microcalcifications, a taller-than-wide shape and suspicious extracapsular extension located in the upper pole of the right thyroid gland. Longitudinal view.


Ultrasound showed a solid hypoechoic and irregularly shaped nodule 13 x 8 x 9 mm in size with microcalcifications, a taller-than-wide shape and suspicious extracapsular extension located in the upper pole of the right thyroid gland. Doppler blood flow signals.


Ultrasound showed a solid hypoechoic and irregularly shaped nodule 13 x 8 x 9 mm in size with microcalcifications, a taller-than-wide shape and suspicious extracapsular extension located in the upper pole of the right thyroid gland. Elastography.


A suspicious parathyroid gland was found in the superior left area of the thyroid bed.


TSH, hTg, and TgAb levels. The patient received RAI therapy 120 days after the operation.


PTH and Ca levels.


Bone window.


Noncontrast.


Postcontrast. CT brain.


T1 FLAIR pre.


Postgadolinium.


Medical image.


Intraoperative photograph of the tumour breaching dura.


The tumour had extended through the skull.


Hematoxylin, and ,eosin stain (high-power view).


Hematoxylin and eosin stain (low-power view).


PAS positive.


FLI-1 positive.


MIC-2 positive.


Ki67 30% positive by visual estimation.


3-dimensional reconstruction of contrasted renal MRA.


3-dimensional reconstruction of contrasted renal MRA. Left anterosuperior oblique view showing bilateral accessory renal arteries arising above the main renal arteries. Right oblique view demonstrating the right renal accessory artery. (Arrowhead = accessory renal artery; closed arrow = main renal artery; open arrow = renal vein).


Renal MRA. MR angiography of the renal arteries in a 40-year-old woman with hypertension and secondary hyperaldosteronism demonstrating a nonstenotic left accessory renal artery. (Arrowhead = accessory renal artery; closed arrow = main renal artery).


Appearance and symptoms of the patient on admission.


(a) Coronal section of pituitary magnetic resonance imaging showing empty sella with no obvious pituitary gland tissue.


(b) High signal T2 sagittal section of same pituitary showing empty sella.


The graph showing chronic thrombocytopenia and brisk response to corticosteroids.


Axial T1-weighted magnetic resonance imaging brain at the level of mid brain shows Molar tooth appearance of thickened and elongated superior cerebellar peduncles.


Axial T1-weighted magnetic resonance imaging brain at the level of cerebellum shows hypoplasia of superior aspect of cerebellum and molar tooth appearance of mid brain.


Pelvis X-rays showing left iliac wing reconstruction with tibial autografts and stabilization with screw-rod type osteosynthesis.


Bone window CT scan in sagittal view obtained at the time of admission showing no osteolytic changes of the calvarial bone.


Preoperative axial.


Coronal. Postgadolinium T1-weighted MRI images, showing a strongly enhancing right frontoparietal tumor with sagittal venous sinus invasion. Note the dural tail indicating a meningeal tumor.


Intraoperative photograph of the bone flap showing extradural lobulated tumor tissue tightly attached to the inner calvarial bone.


Hematoxylin and eosin-stained tumor specimen showing densely packed, small round cells with scanty clear cytoplasm and regular vesicular and hyper chromatic nuclei; magnification, x200.


Postoperative coronal CT scan showing near total tumor removal with craniotomy defect.


Prentiss's maneuver, the uterus (U) appeared in the midline without splitting with the cord and fallopian tube (C) getting out lateral to the medial umbilical ligament (M) with the testis (T) attached.


Surveillance PET-CT revealing uterine uptake, which led to diagnosis of stage I uterine leiomyosarcoma. . Abbreviation: PET-CT, positron emission tomography-computed tomography.


The fundus photo of the left eye in 2013, 6 months after the single intravitreal injection of ranibizumab, shows decreased vascularization of the hemangioma and mild fibrosis.


Anteroposterior radiograph of the feet at 14 months of age shows markedly improved hallux valgus deformities. Image A of the left foot demonstrated an intermetatarsal angle (IMA) of 17. and hallux valgus angle (HVA) of 38. Image B of the right foot demonstrates that the new IMA and HVA were 16. and 40 , respectively.


Clinical photograph of the feet at 24 months of age.


Magnetic resonance angiogram (MRA) with maximum intensity projection (MIP).


3D T2 axial bidimensional image fusion, and . Moderate scoliosis of the basilar trunk with a long cisternal route of a "dominant" left AICA (arrow). AICA distal branch (white arrow) and VII c.


AICA distal branch - VII cranial nerve (c. N. ) conflict. 3D T2 coronal bidimensional image fusion. N. At the intracisternal tract (yellow arrow) (c) The VII c. N. (yellow arrow) is slightly raised by the offending vessel (white arrow).


(d) Schematic representation of the compression modality in case of "transfixing artery.


Intraoperative findings.


N. (b) The V c. N. Is gently pushed on a side to better evaluate the artery transfixing the VII c.


A left dominant AICA turns in the cerebello-pontine cistern, conflicting with the lower cranial nerves n. ) and the anterior surface of the pons. A small branch of AICA penetrates the VII c. N. , under the V c. N. (c) A small piece of autologous muscle is interposed between the proximal AICA, the XI c. N and pons.


(d) MVD for VII c. N. : A small piece of muscle is interposed around the transfixing artery in the area where the nerve is penetrated. No rhyzotomy is performed.


Plain cervical spine (lateral view) radiograph shows no abnormality and no misalignment of the vertebral bodies.


Cervical T1W-Sagittal MR image in the neutral position shows focal atrophy of the lower cervical cord at the C4-7 vertebral levels but no abnormal intramedullary high signal intensity.


Cervical GRE-Sagittal MR image in the flexion position shows the posterior wall of the dural sac between C4 and D1 vertebral levels to shift anteriorly, and the anteriorly displaced cervical cord compressed over the posterior surface of the vertebral bodies.


Cervical GRE-Axial MR image in the flexion position shows the markedly flattened, anteriorly displaced cervical cord due to the epidural lesion (black arrow).


Intraoperative view of the tumour. Patient after the second surgical debridement procedure. The defect involves the scrotum, the perineum, the right ischial region and extended to the lower abdomen.


Post-operative 21 days later surgery. The healthy granulation tissue throughout wound.


Intraoperative view following Integra application. Surgical application of dermal regenerative template.


Post-operative final result at 18 months. Patient showed a satisfying functional and aesthetic result.


Second nerve conduction study according to standard techniques performed on day 25 after admission. No F-waves are recorded by supramaximal stimulation of right ulnar nerve at wrist; M waves are within normal range.


Localized well-defined moist, erythematous and whitish eroded plaques on the anogenital region.


Epidermal proliferation with nests of clear cell neoplasm with pagetoid spreading through the epidermis with flattened basal cell layer. H&E, 10x.


Localized well-defined erythematous and whitish eroded plaques on the anogenital area.


Epidermal proliferation with large rounded atypical cells with clear ample-staining cytoplasm scattered through the epidermis with flattened basal cell layer.


Axial T1-weighted.


T2-weighted. Magnetic resonance imaging at D9 level showing the lesion involving the left half of the vertebral body, pedicle, transverse process, and the lamina with an epidural component producing cord compression.


Postgadolinium injection axial and sagittal T1-weighted images (c and d) show intense enhancement of the tumor. Note the enhancing component in the paraspinal thoracic region.


Thoracic computed tomography showing pneumothorax.


Chest CT showing large right pneumothorax with collapsed lung and pneumomediastinum.


The cervical anteroposterior and lateral radiographs after the first spinal cord stimulator trial.


The cervical anteroposterior and lateral radiographs after permanent spinal cord stimulator implantation.


The schematic diagram of relevant anatomical structures and spinal cord stimulator. . Notes: The SCG is connected with C4 spinal nerve through the lateral branch of the SCG (*). Active electrode is radiopaque and white on the radiograph. After the second trial, electrical stimulation was applied to the second (negative) and third (positive) electrodes. . Abbreviations: MCG, middle cervical ganglion; SCG, superior cervical ganglion.


Weaning time and timeline of the management of the patient after onset of quadriplegia. CT, computed tomography; LP, lumbar puncture; EMG, electromyography; IVIG, intravenous immunoglobulin; MRI, magnetic resonance imaging.


Bilateral medial medullary infarction with "snake eyes appearance" in magnetic resonance imaging 9 months after onset. (A) Axial T1-weighted images showed a typical heart-shaped lesion with low signal intensity at ventral rostral medulla (arrow).


Bilateral medial medullary infarction with "snake eyes appearance" in magnetic resonance imaging 9 months after onset. (B) Different from the axial T1-weighted images, axial T2-weighted fluid-attenuated inversion recovery images showed bilateral lesions with low signal intensity which presented as a special "snake eyes appearance" at the same location (arrow).


Bilateral medial medullary infarction with "snake eyes appearance" in magnetic resonance imaging 9 months after onset. (C) Sagittal T2-weighted images revealed similar lesions with high signal intensity at ventral rostral medulla (arrow).


Magnetic resonance imaging brain with gadolinium contrast demonstrating a left 4 mm hypointense pituitary lesion (red arrow) that was suspicious for recurrent pituitary microadenoma.


An illustration showing positioning for endoscopic transsphenoidal surgery in patients with gravid uterus.


Longitudinal melanonychia in the nails of the feet.


Longitudinal melanonychia in the nails of the hands.


Skin biopsy showed increased melanin in the basal layer (H/E x200).


Ultrasound-guided transverse view of the GAN. . Abbreviations: GAN, great auricular nerve; PSCM, posterior border of sternocleidomastoid muscle.


Embolia cutis medicamentosa. A reticulate, nonblasnching, nonindurated, coalesced areas of mottled erythemato-violaceous patches over the right superior gluteal distribution with extension to the lateral aspect of the thigh, and right lumbar paraspinal area, with satellite lesions measuring in its maximum diameter 23 cm x 18 cm.


Magnetic resonance imaging.


Magnetic resonance imaging. T2-weighted sagittal spine magnetic resonance imaging revealed a longitudinally extensive altered signal intensity from T7 level to conus level with. (T2-weighted axial magnetic resonance imaging at T10 level) centromedullary cord involvement.


Five years after the first inconspicuous MRI scan and 11 years after radiation therapy, a typical cavernoma with surrounding haemosiderin- and methaemoglobin-containing caverns, reflecting former haemorrhage, was detected in the FLAIR MRI sequence.


In a cranial MRI performed in 2006, the FLAIR sequence revealed no pathological lesions anywhere in the brain. In particular, the right-sided supramarginal gyrus, where the cavernoma would later develop, shows no evidence of any signal alteration.


Picture of patient before treatment.


Family pedigree showing the consanguinity of patients' parents.


Nucleotide change in KIAA1279 gene in patient.


His parents.


Clinical characteristics of the patient. Hypopigmented macular lesions on both forearms compatible with vitiligo.


Magnetic resonance imaging of the pituitary gland. A. Sagittal view. Filiform neurohypophysis is observed with decrease intensity (white arrow) in the T1 sequence without contrast.


Magnetic resonance imaging of the pituitary gland. B and C. Sagittal and coronal view. Two microadenomas of 4x2.


(a). T2 Weighted magnetic resonance image (MRI) showing right hemispheric atrophy with temporo - occipital cortical hypointensity, prominent sulcal spaces.


(b). Gadolinium enhanced T1 weighted image showing right temporo - occipital sulcal enhancement consistent with pial angiomatosis.


(c). Susceptibility weighted image (SWI) showing intense blooming of temporo-occipital cortex.


Axial CT with mass measuring ~11 cm x 10 cm.


Sagittal CT with mass measuring ~9 cm x 7.5 cm.


Coronal CT with mass measuring ~12.5 cm x 8.5 cm.


Endoscopic evidence of narrowing due to external compression in sigmoid colon.


Mucosal ischemia at level of stenosis from external compression.


Gross pathology demonstrating mass with intimate association to sigmoid colon with involved mesentery and ileum resection. Posterior view.


Gross pathology demonstrating mass with intimate association to sigmoid colon with involved mesentery and ileum resection. Anterior view.


Squamous portion of the tumor. Demonstrates keratinization and intracellular bridges. There is a variation in size of the nuclei, there is nuclear atypia and prominent nucleoli.


Chondroid portion of the tumor as well as cartilaginous matrix and various shapes/sizes of chondrocytes.


Spindle cell sarcoma component of the tumor.


Adenocarcinoma features with gland formation by cuboidal to columnar cells. Nuclei with intracytoplasmic mucin droplets and some very large, atypical nuclei are seen.


Brain MRI at admission (A-E). (A, B) Axial view (weighted sequence in T1, T2).


Brain MRI at admission (A-E). (C-E) Sagittal, coronal, axial view after contrast injection, with the tumor marked.


(F, G) Brain MRI after surgery.


(H) Pancreatic cysts.


Representative postoperative pathological images. (A) Histologic examination of optic nerve HGB.


Representative postoperative pathological images. (B-F) Immunohistochemical staining. (B) The proliferative fraction of tumor cells (Ki-67) was low, at approximately 2.


Representative postoperative pathological images. (B-F) Immunohistochemical staining. (C) CD-34 showed abundant blood vessels.


Representative postoperative pathological images. (B-F) Immunohistochemical staining. Tumor cells showed positivity for EGFR.


Representative postoperative pathological images. (B-F) Immunohistochemical staining. , NSE.


Representative postoperative pathological images. (B-F) Immunohistochemical staining. And vimentin.


Surgical pictures. Severe adhesion of the tumor and left optic nerve.


Clinical characteristics and gene sequencing results of the patient and his family members. (A) Digital radiography of the hands. The phalanges and humeral metaphysis are fused, indicating an age of 14-15 years.


Clinical characteristics and gene sequencing results of the patient and his family members. (B) Pedigree of the patient and gene sequencing results. The father is a heterozygous carrier of the P857T mutation in the COL1A2 gene. The mother is a heterozygous carrier of the R220X mutation of the COL1A1 gene. The twin brothers are heterozygous carriers of the above two mutations.


Clinical characteristics and gene sequencing results of the patient and his family members. (C) Light blue sclera of the patient.


Clinical characteristics and gene sequencing results of the patient and his family members. (D) Magnetic resonance imaging of the pituitary of the patient, indicating reduced morphology of the anterior lobe, absence of the pituitary stalk, and displacement of the neurohypophysis to the infundibulum (red arrow).


(A) Magnetic resonance imaging showed a pituitary adenoma (white arrow).


(B) Chest computed tomography revealed multiple lung nodules (black arrows).


Case 1 preoperative contrast-enhanced T1-weighted MRI scan:. Sagittal.


Coronal. Arrows delineate the thin rim of normal pituitary gland draped superiorly over the tumor.


Case 1 2-month postoperative contrast-enhanced T1-weighted MRI scan:. Sagittal.


Coronal. Arrows delineate the proximal and distal aspect of the pituitary stalk.


Maximum intensity projection image of fluorodeoxy glucose scan with fluorodeoxy glucose-avid lesion in the left humerus marked by a thick arrow, while the skull lesion cannot be appreciated due to high adjacent normal brain activity.


Maximum intensity projection positron emission tomography image of fluoroethyl tyrosine scan showing a single lesion in the skull marked with an arrow having increased fluoroethyl tyrosine uptake; however, no uptake in the left humerus is noted.


Improvement in each item after the beginning of the treatment with anakinra.


20-year-old man with anal atresia operation history in childhood diagnosed with Currarino syndrome. (a) T2-weighted sagittal magnetic resonance image shows calibre of one-third of inferior rectum is very thin (thick white arrows), while superior and middle segments of the rectum are dilated (arrowheads). Also, the images demonstrate anterior meningocele (asterisk) at the posterior of the rectum related to spinal canal that originated from the neural foramen of S2 and S3 vertebrae. The lesion is isointense with cerebrospinal fluid.


20-year-old man with anal atresia operation history in childhood diagnosed with Currarino syndrome. (b) Fat-saturated T2-weighted axial magnetic resonance image shows partial cleft at L5 vertebra corpus (thin white arrow) and dilated rectum in front of it.


20-year-old man with anal atresia operation history in childhood diagnosed with Currarino syndrome. On. T1-weighted.


20-year-old man with anal atresia operation history in childhood diagnosed with Currarino syndrome. Fat-saturated T2-weighted axial magnetic resonance images, left half of the sacrum is not seen. In this part, spinal canal relationship of anterior meningocele (asterisk) and its indentation to the adjacent rectum is also observed.


20-year-old man with anal atresia operation history in childhood diagnosed with Currarino syndrome. (e) T2-weighted coronal magnetic resonance images demonstrate the contiguity of the sacral defect and anterior meningocele (asterisk) more clearly (R = rectum, B = bladder).


Change in the serum sodium concentration with time. Note the serum sodium level nadir on day 17.


T2 weighted sagital consecutive images.


Transverse image. Show hyperintense punctate lesions (arrows) in anterior of the cervicothoracic spinal cord, extending from C4 to T3 vertebral level.


Contrast enhanced T1 weighted sagital image (c) shows enhancement of the lesions (arrows).


OCT of the left macula. OS = Outer segment; ILM = internal limiting membrane; RPE = retinal pigment epithelium.


OCT of the right macula. OS = Outer segment; ILM = internal limiting membrane; RPE = retinal pigment epithelium.


Sagittal fluid-attenuated inversion recovery image delineates corpus callosum hypogenesis. The rostrum, genu, and splenium are absent while remnant of the body seems as a short thin line. Note polymicrogyria in the frontal lobe.


Corpus callosum is absent in this coronal T2-weighted section through thalami. Lateral ventricles are slit like and small in caliper. They are upturned (black arrow) and there are Probst bundles (arrowhead), secondary to callosal hypogenesis. Note bilateral periventricular nodular gray matter heterotopia (white arrows).


Axial T1-weighted image shows bifrontal parasagittal polymicrogyria (black arrows) and bilateral periventricular nodular gray matter heterotopia (white arrows).


Subsequent axial T2-weighted images clearly delineate bilateral periventricular gray matter heterotopia (white arrows). Note bifrontal parasagittal polymicrogyria (a and b).


Axial T2-weighted image demonstrates abnormal cerebellar foliation and fissuration with loss of the normal architecture in the inferior aspect of the cerebellar hemispheres, consistent with cerebellar dysplasia.


The physical examination was notable for necrotic-appearing tissue in the entire penis and scrotum, with areas of induration and crepitus.


A; Upper gastrointestinal endoscopy revealed an irregular elevated mucosa in the duodenal bulb.


B; The other tumor looked like a submucosal tumor with delle.


The resected specimen shows Borrmann type 2 tumor (black arrows) and submucosal tumor (white arrows).


A; Pathological examination of the oral side tumor showed that it was consistent with normal Brunner's glands (black arrows), Brunner's gland hyperplasia (white arrow) and adenocarcinoma supposed to arise from Brunner's glands (black arrowheads) (H&E, x40).


B; Immunohistochemical staining revealed that the sites of normal and hyperplasia glands were positive for MUC6, but that the site of adenocarcinoma was negative (x40).


C; Pathological examination of the anal side tumor reveals normal Brunner's glands and adenoma supposed to arise from Brunner's glands (H&E, x40).


D; Immunohistochemical staining revealed that the sites of hyperplasia glands were positive for MUC6, but that the site of adenoma was negative (x40).


Panoramic examination of patient 1. The examination shows radiopaque lesions just inferior to the right mandibular condyle and the mandible angle.


Computed tomography with solid prototype. Solid prototype in up.


Computed tomography with solid prototype. Lateral. View showing osteomas in the condylar region and mandible angle that were surgical removed.


Panoramic radiographic patient 2. The presence of osteoma in the left condylar region (arrow head). Note supernumerary teeth in the mandible and maxilla (long arrow). Osseous dysplasia can also be observed throughout the mandibular body (short arrow).


Patients appearance. This photograph presents facial dysmorphism including; a triangular face, pointed chin, sparse hair, nail hypoplasia, brachydactyly, crowded teeth and frontal bossing.


Minimal cupping at the phalangeal basis, short phalanges, short and broad metacarpal and metatarsal bones, cone-shaped epiphysis and metaphyseal cupping at middle and distal phalanges. Narrow and vertical appearance of the iliac bone with shallow acetabuli and short femoral necks. Knee metaphyseal flaring with mild epiphyseal dysplasia and slender diaphysis of long bones. Short fibula and tall vertebrae are seen.


Pre-operative clinical picture showing gross deformity of the left foot.


Pre-operative left ankle lateral X-ray showing flattop talus.


Radiograph showing the right foot after hexapod frame application using a TrueLok-Hex Frame.


A photo image of the left foot during fixation treatment using a TaylorSpatial Frame.


Lateral X-ray of the left.


Right. Foot 12 months after removal of external fixator showing union of the triple arthrodesis.


Side view of both feet showing clinically plantigrade feet post-correction.


Front view of both feet showing clinically plantigrade feet post-correction.


Demonstration of the paradoxical movement of the lower chest wall.


Chest axial computed tomography (CT) scan. Demonstrates lack of fusion of the sternal
margins.


3D reconstruction of the CT scan of the chest showing the edges of the lateral
sternal bards.


Intraoperative view of the reconstruction steps. Dissection of the anterioperiostem of the sternal bars which will be pulled medially and
posteriorly.


Intraoperative view of the reconstruction steps. Composite mesh used to reinforce the sternum.


Intraoperative view of the reconstruction steps. View of the completed repair.


Closing of the gap between the two sternal bars behind the sternum by the prosthesis (green arrow).


Medical history, log TSH, and LT4 dose per bodyweight of the case patient. The dose of sertraline and ethynyl estradiol were 50 mg per day and 0.03 mg per day, respectively. The beginning dates of each medication were May 2015, September 2015, and September 2016. There was fluctuation of serum TSH level in spite of increasing LT4 dose over bodyweight. LT4, levothyroxine; Bwt, bodyweight.


Computed tomography of the brain showing subarachnoid chemorrhage with a central low density (a).


No substantial sellar enlargement is observed with a sagittal reconstructed view (b).


Brain computed tomography angiography showing the absence of a ruptured aneurysm (c).


Computed tomography obtained 7 days postoperatively showing extensive cerebral infarction due to vasospasm (d).


Magnetic resonance imaging showing an intrasellar mass which is depicted as low-intensity on a nonenhanced T1-weighted image (a).


With gadolinium, the mass exhibits strong enhancement. Sagittal view.


Axial view).


On a T2-weighted image, the mass is depicted as heterogeneous high intensity, and a dense subarachnoid clot was also observed in the prepontine cistern (d).


Image showing the patient incubated with evidence of extensive involvement of the skin of neck and limbs.


Image showing Stevens-Johnson syndrome invading the mucus membrane of the eyes.


Magnetic resonance imaging (MRI) at the first visit showing an incidentally found sellar tumor. The posterior pituitary gland was located superoposterior to the tumor (open arrowhead in a). Sagittal T1-weighted image (WI).


Magnetic resonance imaging (MRI) at the first visit showing an incidentally found sellar tumor. The posterior pituitary gland was located superoposterior to the tumor (open arrowhead in a). Cavernous sinus invasion is indicated by arrowheads (b) Coronal T1WI.


Magnetic resonance imaging (MRI) at the first visit showing an incidentally found sellar tumor. The posterior pituitary gland was located superoposterior to the tumor (open arrowhead in a). (c) Sagittal gadolinium-enhanced image (GEI).


Magnetic resonance imaging (MRI) at the first visit showing an incidentally found sellar tumor. The posterior pituitary gland was located superoposterior to the tumor (open arrowhead in a). The pituitary gland seemed to be on top of the tumor (arrows in c and d). Cavernous sinus invasion is indicated by arrowheads (d) Coronal GEI.


A magnetic resonance imaging (MRI) study for 6 years after the first visit demonstrated an extensively grown tumor occupying the sellar and wide juxtasellar regions (a-d). Coronal T1WI.


A magnetic resonance imaging (MRI) study for 6 years after the first visit demonstrated an extensively grown tumor occupying the sellar and wide juxtasellar regions (a-d). Sagittal T2WI.


A magnetic resonance imaging (MRI) study for 6 years after the first visit demonstrated an extensively grown tumor occupying the sellar and wide juxtasellar regions (a-d). The black arrow indicates an invasion of the front of the tumor into the clivus (c and d). Sagittal GEI.


A magnetic resonance imaging (MRI) study for 6 years after the first visit demonstrated an extensively grown tumor occupying the sellar and wide juxtasellar regions (a-d). The white arrow indicates a relatively well-enhanced area, supposed to be the pituitary gland, on top of the tumor (d). The black arrow indicates an invasion of the front of the tumor into the clivus (c and d). Coronal GEI.


A sagittal computed tomography (CT) scan the tumor was isodense to the brain parenchyma (a). (a) Brain window.


The sellar floor was extensively thickened (arrows in a and b). (b) Bone window.


A magnetic resonance imaging (MRI) scan immediately after the surgery showing sufficient decompression of the optic chiasma. Sagittal GEI.


A magnetic resonance imaging (MRI) scan immediately after the surgery showing sufficient decompression of the optic chiasma. The pituitary gland was well preserved (arrows in a and b). Coronal GEI.


A magnetic resonance imaging (MRI) scan studied at 34 months after the surgery showed the control of the tumor growth. Sagittal GEI.


A magnetic resonance imaging (MRI) scan studied at 34 months after the surgery showed the control of the tumor growth. The surgically debulked area was occupied by fibrous tissues (* in a and . (b) Coronal GEI.


Patient with left-sided proptosis.


The follow-up photograph after 1.5 months showing significant resolution of the proptosis.


Sanger sequencing results: electropherograms of the affected patient and her parents. (+) indicated the wild type allele. The position of the mutation is indicated by the arrow.


Sagittal T2-weighted MRI without injection showing bilobular ovarian mass (arrow) and ascites (asterisk).


Serous cystadenoma of the ovary. (A) Thin-walled unilocular cyst that is lined by cubo-cylindrical monostratified epithelium (Low magnification x 10).


Serous cystadenoma of the ovary. (B) Monostratified, focally pseudostratified lining with monotonous, cuboidal or columnar, ciliated cells with round or oval nuclei. The epithelium is supported by variable amounts of spindle cell stroma with no cytologic atypia seen (Medium magnification x 20).


Pain could be reproduced when the patient applied wrist flexion and ulnar deviation (a and b).


The patient achieving full pronosupination, palpable, and visible extensor carpi ulnaris dislocation (c) was equally addressed in both limbs.


Dorsal approach of the fifth and sixth compartments (a).


Ulnar groove of the sixth compartment's floor was deepened to give better support to the tendon (b).


Three 2.0mm bone anchors anchored to the lateral ulnar cortex (c).


An extensor retinaculum flap was made and extensor carpi ulnaris was finally wrapped around the flap and attached above the fifth compartment using the anchors (d).


Incision over the course of the nerve between the medial epicondyle and the olecranon (a).


Ulnar nerve dislocation with flexion of the elbow (b).


Osborne's ligament and the arcade of Struthers incised, together with the deep flexor-pronator mass fascia (c).


Anterior subcutaneous transposition maintained with a facial flap (d).


Index case with tongue soft-tissue masses.


Polydactyly.


The evolution of hemoglobin (Hb).


White cell count (WCC).


Thrombocytes.


The DAS28 score. Up to 19 months after therapy start. Arrows indicate time of Rituximab infusions.


Black, necrotic ulcerated plaque on the gluteal region 15 days following etofenamate injection.


Large atrophic, deppressed scar on the gluteal region one month following treament.


Thrombus extracted from inferior vena cava (IVC) and atrium.


Differential hypoxemia. ECMO, Extracorporeal membrane oxygenation; IVC, inferior vena cava; RA, right atrium.


Preopertaive axial view of current case showing. T1 (without contrast).


T1 (with contrast).


T2 (without contrast).


Immunohistochemically, the cells were positive for CD99. The complete reactivity pattern of the specimen is shown in Table 2.


The electrocardiogram prior to antiarrhythmic treatment. The electrocardiogram shows a short PR interval, a delta wave, wide QRS complex, and ST depression.


Electrocardiograms with the sacral neuromodulation device in both on and off modes. (A) An electrocardiogram performed with the sacral neuromodulation implant in "off" mode shows no changes and a sinus rhythm in a patient on antiarrhythmic medication.


Electrocardiograms with the sacral neuromodulation device in both on and off modes. (B) An electrocardiogram performed with the sacral neuromodulation implant in "on" mode shows no changes and a sinus rhythm in a patient on antiarrhythmic medication.


Abdominal radiograph showing dilated bowel loops.


Abdominal magnetic resonance imaging scan of probands showing multiple renal cysts and pulmonary bullae.


CT scan showing partial vermian hypoplasia with partial obstruction to 4th ventricle but no posterior fossa enlargement: Findings suggestive of Dandy Walker variant.


Platelet fluctuations of the patient within one and a half years (13-Feb-2019-26-Aug-2020) after admission.


(a) Inferonasal view of Descemet's membrane detachment (DMD) 5 months after penetrating keratoplasty in patient 1.


(b) tomography.


(a) Inferotemporal view of Descemet's membrane (DM) dehiscence at the graft-host interface 1 month following penetrating keratoplasty in patient 2.


(b) DM dehiscence in the same patient demonstrated by anterior segment optical coherence tomography.


CT sagital scan showing C2 Fracture.


CT axial scan showing bilateral facet C2 fracture.


Sagital MRI that shows the angulation greater than 11 grades and comprise of the C2-3 intervertebral disc.


Axial CT scan that shows adequate reduction of C2 fracture with transpedicular screws.


Sagital CT scan that shows reduction of fractured elements.


3D reconstruction showing posterior C2-4 fusion.


Transoperative view of the cervical screws in place.


Transoperative fluoroscopic control showing adequate placement of cervical C2-4 screws.


The CT images of the adrenal glands for case1.


Case 2.


Case 3 Adrenal contrast-enhanced CT showed adrenal hyperplasia (arrows).


Endoscopic image showing the post-cricoid web.


Growth curve representing prenatal and postnatal growth retardation.


MRI of the brain showing slightly enlarged ventricles and pituitary gland with no abnormalities.


Right-sided spike-and-wave focus in the fronto-temporo-parietal region, with a short generalized discharge on EEG.


Fetal ultrasonographic image shows an extrathoracic left ventricle (RV, right ventricle; LV, left ventricle; MV, mitral valve; TV, tricuspid valve).


Fetal ultrasonographic image shows an extrathoracic left ventricle, a ventricular septal defect and pulmonary artery hypoplasia (L, liver; VSD, ventricular septal defect; PA, pulmonary artery).


Fetal ultrasonographic image shows extrathoracic left ventricle and extra-abdominal liver (L, liver; LV, left ventricle; VSD, ventricular septal defect).


Clinical features of the newborn.


Major clinical features of the patient. (A) Corneal leucoma in both eyes, with no visible pupils and a small left eyeball.


Major clinical features of the patient. (B) Nail dystrophy (right index finger).


Major clinical features of the patient. (C-E) Bilateral absence of the patella.


Major clinical features of the patient. (F) The full body photo of the patient.


Transverse T1-weighted magnetic resonance images of the brain. . Notes: (A-C) Diffuse atrophy of the brain, including the cerebrum, cerebellum, and hippocampus was found, accompanied by dilatation of ventricles, subarachnoid space, and sulci, with an Evans' index of 0.25.


Transverse T1-weighted magnetic resonance images of the brain. (D-F) Eight months after surgical removal of cortisol-secreting adrenocortical adenoma, brain atrophy recovered. Dilatation of ventricles, subarachnoid space, and sulci was also resolved, with an Evans' index of 0.22.


Radiological findings. . Notes: (A) Plain abdominal computed tomography showed a tumor of 2.7 cm diameter with 35 Hounsfield units (arrow) in the left adrenal gland.


Radiological findings. (B) 131I-adosterol scan (posterior view) demonstrated radioisotope accumulation in accordance with the left adrenal mass (arrow), while no uptake was detected on the opposite side.


Histological findings of the resected left adrenal gland. . Notes: (A) Tissue sections stained with hematoxylin and eosin (HE) (20x) demonstrated an apparently marginated encapsulated tumor without any capsular or blood vessel invasion.


Histological findings of the resected left adrenal gland. (B) The zona reticularis and fasciculata of the attached non-tumoral adrenal tissue was atrophic (arrow) and showed little expression of dehydroepiandrosterone sulfate (20x).


Histological findings of the resected left adrenal gland. (C) The tumor consisted mainly of compact cells and partially of clear cells (HE, 400x). A slight infiltration of lymphocytes (arrow) was observed in the tumor.


Histological findings of the resected left adrenal gland. (D) Most of the tumor cells indicated positive immunostaining for 17alpha-hydoroxylase (400x).


Thyroid FNA ThinPrep: On the left are the mesothelioma cells, which are in three-dimensional groupings compared to the Hurthle cell population on the right, that forms two dimensional sheets. The mesothelioma cells have waxy cytoplasm with multiple nucleoli and more nuclear variation. The Hurthle cell population has abundant granular cytoplasm and generally one nucleolus. Papanicolaou stain x600.


Surgical Resection: Panel A (x40) shows nodular thyroid tissue. Panel B (x40): Two populations of cells seen within the nodule. Hurthle cells (black arrow) shows abundant pink cytoplasm. However, the tissue contains mostly mesothelial cells (white arrow) which are smaller polygonal cells with less cytoplasm. Panel C (x100): Mesothelial cells are positive for keratin 5/6. Panel D (x100): Mesothelial cells are positive for calretinin. Other immunostains (not shown) that were positive in the mesothelial cells include CK7 and HBME1, while TTF-1 and Thyroglobulin were both negative.


Magnetic resonance imaging of sella turcica shows predominantly cerebrospinal fluid bright signal inside sella in T2-weighted sagittal image.


Very thin enhancing compressed pituitary gland along the floor of sella with central positioned pituitary stalk in postcontrast enhanced images.


Magnified magnetic resonance imaging of sella turcica (sl) shows empty sella in sagittal T2-weighted image.


Thinned out enhancing pituitary parenchyma with centrally placed stalk (st) in coronal postcontrast image of brain.


Pre- and postoperative clinical course. 0: Onset day, mos: Months, ETSS: Endoscopic transsphenoidal surgery.


Axial computed tomography study of the brain. . Notes: Minute cortical and subcortical calcifications located in bilateral frontal lobe.


Spin-Echo T2-weighted sagittal projections on magnetic resonance imaging study of the brain. . Notes: A "cobblestone" appearance is evident in the bilateral frontal opercular region.


Electroencephalogram showing diffusely deregulated cerebral electrical activity together with ubiquitous fast paroxysms, prevalent in the left temporal area.


Case 1. 42-year-old male with bilateral hypertrophic olivary degeneration following excision of a fourth ventricular epidermoid cyst Axial. T2-weighted images through fourth ventricle (a and b) show postoperative gliosis (white arrows).


42-year-old male with bilateral hypertrophic olivary degeneration following excision of a fourth ventricular epidermoid cyst. Video clip shows palatal myoclunus.


Case 1. 42-year-old male with bilateral hypertrophic olivary degeneration following excision of a fourth ventricular epidermoid cyst. Axial T2-weighted image 14 months later through same level as 2(b) shows reduction in hypertrophy and hyperintensity.


Case 2. 49-year-old male with unilateral HOD following brainstem hemorrhage.


Case 2. 49-year-old male with unilateral HOD following brainstem hemorrhage. T2-weighted axial images through medulla show ill-defined hyperintensities in olivary region on right side with mild hypertrophy (white arrows).


Fundus photo showing pre-operative full thickness macular hole.


High resolution fundus photo after resolution of Legionella endophthalmitis.


vWF and Factor VIII response to intravenous immunoglobulin (IVIg) therapy.


Anterior facial view.


(a) Anterior view.


(b) Maxillary occlusal view.


Orthopantomograph and cone-beam computed tomography images showing: (A) Impacted supernumerary teeth.


(B) Pulpal calcifications/stones.


(C) Taurodontism.


Three-dimensional images showing facially impacted 13. (a) Facial view.


Three-dimensional images showing facially impacted 13. (b) Palatal view.


Three-dimensional images showing facially impacted 13. (c) Occlusal view.


Three-dimensional images showing facially impacted 13. (d) Lateral view.


A; A large vascular polypoid mass completely filling the left nasal cavity.


B; The nasal septum is excluded to the right side.


A; Angiography of left maxillary artery.


B; Gelatin was injected into the left maxillary artery.


C; A lateral rhinotomy approach was performed to remove the tumor.


Molecular studies using PCR analysis confirmed the chromosomal translocation of FLI1 (exon 6).


Clinical appearance of a solid rubbery nodular tumor on the right foot arch, before the initial surgical excision.


Histologic features: elongated neoplastic cells arranged in interconnected fascicles with a plexiform pattern (A). Hematoxylin-eosin, x100.


Ovoid and round neoplastic cells intermixed with osteoclast-like giant cells and hemosiderin deposition (B). . Hematoxylin-eosin, x200).


Preoperative view and design of the excision with 2 cm margins (A).


Early postoperative result after skin graft coverage of the defect (B).


Long-term postoperative view of the operated area 52 months after the wide excision and skin grafting.


21-year-old man with an 8-h history of severe right lower abdominal pain, epigastric pain, vomiting, and fever, diagnosed with Valentino's syndrome. Post contrast computed tomography (CT) scan of abdomen, coronal reformatted image shows air in the retroperitoneum on the right, predominantly around the right kidney (arrow). Normal right renal parenchyma is noted.


21-year-old man with an 8-h history of severe right lower abdominal pain, epigastric pain, vomiting, and fever diagnosed with Valentino's syndrome. Serial post contrast axial computed tomography (CT) scans of abdomen. Above the level of renal hila demonstrating the first part of duodenum.


21-year-old man with an 8-h history of severe right lower abdominal pain, epigastric pain, vomiting, and fever diagnosed with Valentino's syndrome. At the level of renal hila demonstrating the second part of duodenum.


21-year-old man with an 8-h history of severe right lower abdominal pain, epigastric pain, vomiting, and fever diagnosed with Valentino's syndrome. Just below the level of renal hila.


21-year-old man with an 8-h history of severe right lower abdominal pain, epigastric pain, vomiting, and fever diagnosed with Valentino's syndrome. . : At left infrarenal level show significant fat stranding and air in and around the region of the duodenum (solid black arrow), duodenal wall thickening (white arrow), significant fat stranding, retroperitoneal fluid collection, and air in the subhepatic region (hollow black arrow).


21-year-old man with an 8-h history of severe right lower abdominal pain, epigastric pain, vomiting, and fever diagnosed with Valentino's syndrome. Chest radiograph (frontal view) shows right perinephric air (arrow).


21-year-old man with an 8-h history of severe right lower abdominal pain, epigastric pain, vomiting, and fever diagnosed with Valentino's syndrome. Intraoperative photographs show. Retroperitoneal duodenum, and ,the peritoneal rent (white arrow).


21-year-old man with an 8-h history of severe right lower abdominal pain, epigastric pain, vomiting, and fever diagnosed with Valentino's syndrome. Shows the perforation in the anterior wall of the duodenum (black arrow). (GB: Gall bladder).


(a,b) The patient's right index and middle fingers on preoperative evaluation showing fingertip ulceration.


Hyperplastic Pacinian corpuscles located adjacent to the radial neurovascular bundle of the right index finger.


(a,b) Formal sympathectomies were performed on both the radial and ulnar neurovascular bundles with use of the operating microscope.


(a,b) Evidence of healed digital ulcerations at 3-month follow-up.


Cross-section of Pacinian corpuscle showing multi-lamellated connective tissue capsule at 2x.


Medical image.


20x. Magnification.


Face lesions before treatment (at admission).


Thorax lesions before treatment (at admission).


Torso lesions before treatment (at admission).


Face lesions at discharge (23rd day of burn unit).


Thorax lesions at discharge (23rd day of burn unit).


Torso lesions at discharge (23rd day of burn unit).


Dysmorphic features: prominent long nasal bridge and forehead, small lower jaw, thin lips, strabismus, down slanting palpebral fissures and low set cupped ears.


A; Height and its response to GH and IGF1 treatment.


B; Weight.


Non-contrast computed tomography scan brain showing subarachnoid hemorrhage (SAH). Black solid arrows indicating SAH.


Contrast-enhanced computed tomography showing an expansile mass in the right maxilla measuring approximately 5.6 cm x 4.6 cm x 4.1 cm.


Chest radiograph showing left-sided pleural effusion.


Contrast-enhanced computed tomography of the abdomen showing cystic lesion in the right ovary and ascitic fluid.


Contrast-enhanced computed tomography of the chest showing left-sided pleural effusion along with lung collapse.


Extraoral view showing facial asymmetry.


Birds eye view showing deviated chin button toward right side.


Intraoral view showing enlargement of the maxilla and the mandible.


PNS view showing expansile, ill defined mixed radiopaque-radiolucent lesions in the frontal bone, ground glass radiopaque lesion in the right maxilla.


OPG showing extensive multilocular lesion of the right ascending ramus extending upto the mandibular left first molar.


Lumbar MRI T1W image with contrast (sagittal view) demonstrating enhancement of multiple nerve roots (blue arrows).


Pre- and postoperative stages of penetrating keratoplasty (PK) of the presenting case. The right.


Pre- and postoperative stages of penetrating keratoplasty (PK) of the presenting case. Left eye. Revealed a congenital corneal opacity with scleral tissue extension in the center and the periphery of the cornea, and discreet limbal vascularisation. The histological findings confirmed sclerocornea.


Pre- and postoperative stages of penetrating keratoplasty (PK) of the presenting case. The corneal grafts were completely clear after PK at 4 days on the right eye.


Pre- and postoperative stages of penetrating keratoplasty (PK) of the presenting case. And at 5 months on the left eye In the left eye, the sutures had already been removed.


Pre- and postoperative stages of penetrating keratoplasty (PK) of the presenting case. After 3 years, both eyes (E, F) showed a clear corneal transplant in the center.


Cardiac magnetic resonance imaging (MRI) with gadolinium contrast: evidence of delayed hyper enhancement (arrow) in both the basal and inferolateral left ventricular regions.


Decreased uptake in the inferolateral and apical ventricular myocardium, which was reversible during stress (reverse distribution) shown on Technetium99m sestamibiscintigraphy myocardial perfusion study.


Multiple metastasis. Although the ovary carcinoma was resected, liver, and bone metastasis (arrow) was detected. Multiple lymph nodes are swelling (arrowhead), indicating metastasis.


Bogota bag.


Dynamic closure system (ABRA ).


Total approximation of the borders of the fascia and skin before primary closure.


Final appearance of the abdomen.


Sagittal computed tomography image of the brain demonstrates a posterior fossa anomaly with vermian hypoplasia, expansile arachnoid cyst, and hydrocephalus.


(a) Maximum intensity projections of computed tomography (CT) angiography demonstrate stenosis of the basilar artery and aplasia of the right common carotid artery.


(b) Multiplanar reconstruction of CT angiography of the neck demonstrates aplasia of the right internal carotid artery.


(c) Skull base CT scanning demonstrates an absence of the right carotid canal.


(d) Abnormal origin and course of the left subclavian vessels are demonstrated. Bilateral common carotid arteries have arisen from the distal side of the left subclavian artery.


(a) Single-photon emission computed tomography demonstrates reduced cerebral blood flow in the border zones between the middle and posterior cerebral artery territories in the right hemisphere.


(b) After extracranial-intracranial bypass, cerebral blood flow of the right hemisphere improves to the normal level.


Brownish-black discolouration of the penis with erythema of the scrotum.


Discolouration of the penis with vesicles filled with hemorrhagic fluid.


Penile skin after debridement.


A; Hematoxylin and eosin. X100. The neoplasm infiltrates through the dermis and is associated with hemorrhage.


B; Hematoxylin and eosin. X400. Irregular vascular spaces are lined by layers of cytologically malignant epithelioid endothelial cells that have amphophilic cytoplasm, large vesicular nuclei with prominent nucleoli.


C; CD31. X400. Immunohistochemical stain for CD31 stains neoplastic endothelial cells in a membranous pattern.


Slit lamp photograph of the left eye demonstrating peripheral corneal edema.


Erythematous tender plaques on forearm with pseudovesicular appearance (Close up - Inset).


Histopathology showed a diffuse infiltrate consisting predominantly of mature neutrophils located in the upper dermis without evidence of primary leukocytoclastic vasculitis.


Rapid healing on treatment with Dapsone and oral corticosteroids.


Port-wine stains seen over the left side of the face, extending to the right side at the forehead, nose, lip, chin, and cheek regions and a pedunculated, round growth having diameter approximately 2.5 cm on the chin area below the lower lip.


Computed tomography brain revealing abnormal, well-defined 0.5-cm-sized calcified lesions with perilesional gliosis.


Histopathology showing features of lobular capillary hemangioma.


Axial, coronal, and sagittal images of a plain CT head show gyriform calcification in the right parietal cortex. Associated volume loss in the parietal lobe is noted.


Axial, coronal, and sagittal images of a contrast-enhanced MRI reveal focal enhancement with the right parietal sulci.


Timeline of symptoms, diagnostic, interventions, and outcomes.


Shoot from brain MRI of May 8 in :. Show T2-FLAIR acquisition.


Shoot from brain MRI of May 8 in (C) Shows occipital lesion in T2-FLAIR acquisition.


Shoot from brain MRI of May 8 in (D) Shows parietal lesion in T2-FLAIR acquisition.


Shoot from brain MRI of May 8 in (E) Shows occipital lesion positive in DWI.


Shoot from Brain MRI of June 16: (F,G) show T2-FLAIR acquisition.


HBV-DNA and EBV-DNA were detected by the patient. In October 2016, HBV-DNA of the patient was raised to 2.656x10^5 copy/mL, so far, EBV-DNA was still negative. . Abbreviations: CLL/SLL, chronic lymphocytic leukemia/small lymphocytic lymphoma; MCL, mantle cell lymphoma; HBV-DNA, hepatitis B virus-deoxyribonucleic acid; EBV-DNA, Epstein-Barr virus-deoxyribonucleic acid.


Timeline with relevant data about the episode of care.


Clinical manifestations and treatment response of the patient. A; Before treatment, multiple, variably sized, coalescent, pruritic erythematous urticarial papules and plaques on the thigh are shown.


Clinical manifestations and treatment response of the patient. B; Seven days later, both subjective and objective improvements of symptoms were noticed.


Clinical manifestations and treatment response of the patient. C; After the second session, almost total relief of subjective symptoms and moderate postinflammatory hyperpigmentation were noted on follow-up 12 days later.


Bruising lesion localized to the hands with edema and dysesthesia.


Family pedigree.


Large fourth ventricle mass consistent with medulloblastoma.


Surveillance colonoscopy showing multiple sessile polyps in the entire colon with histologic evidence of dysplasia.


Preoperative photograph in which a great enlargement of the lower lip can be seen.


Intraoperative photograph showing the designed incisional pattern.


Immediate postoperative result.


In this histological image, a mucous layer with chronic lymphoplasmacitic infiltrate can be seen, with presence of noncaseating granulomas. Hematoxylin and eosin (H&E). 2x.


In this histological image, a mucous layer with chronic lymphoplasmacitic infiltrate can be seen, with presence of noncaseating granulomas. Hematoxylin and eosin (H&E). 20x.


Final result after 1-year follow-up. Normal lower lip size has been achieved, in an adequate proportion to the upper one.


Bone tissue with signs of remodeling. HE stain, magnification 200x. . See cement lines (arrows).


Intra operative image showing hernial sac containing uterus, fallopian tubes and germ cell tumor.


Intraoperative ultrasound revealing a 2 cm heterogeneous right-sided mass consistent with an abnormal right upper parathyroid gland.


Photomicrographs of the resected parathyroid gland showing multiple endothelium-lined intercommunicating vascular channels filled with blood (capillary hemangioma-like proliferation) without evidence of endothelial atypia or mitotic activity and atrophy of the adjacent tissue (H&E, 20X).


CT scan of the abdomen and pelvis with abdominal ascites.


HHV-8 immunostain showing positive nuclear staining. HHV-8 is required for an unequivocal diagnosis of PEL.