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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


Gangrenous digits of the patient.


Ulcerated jugulodigastric node.


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


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


Lymphangitis carcinomatosis involving the right lobe and mediastinal adenopathy.


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


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


CT scan of the neck showing a normal thyroid gland.


Histopathology image of the thyroid tissue suspicious for PTC.


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


ACTH induced hyperpigmentation.


CT image showing heterogenous multilobulated pelvic lesion.


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


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


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


Ruptured right pelvic tumour, uterus with left ovarian tumour.


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


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


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


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


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


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


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


Periodic acid-Schiff stained section showing intracytoplasmic glycogen positivity.


Lesional tissue expressing strong CD99 positivity.


Lesional tissue expressing strong positivity for Vimentin.


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


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


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


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


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


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


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


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


Brain stem degeneration presents in brain MRI. Sagittal.


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


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


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


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


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


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


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


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


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


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


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


Numerous gallstones retrieved from small bowel lumen.


The largest gallstone measuring 3.5 cm in diameter.


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


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


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


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


Midline diastema between maxillary anterior teeth.


Orthopantomogram showing retained primary teeth and multiple missing teeth.


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


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


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


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


Child of nephrotic syndrome showing facial swelling.


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


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


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


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


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


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


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


Wide, violaceous striae on the chest.


Abdomen.


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


Left hemiuterus and uterine tube after laparoscopic resection.


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


Indirect. Illumination.


The proband's 56-year-old mother.


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


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


Lower abdomen.


Breasts.


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


36 h following treatment initiation.


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


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


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


Preoperative smile of case 1.


Incision marking with surgical pen.


Intraoperative photograph of incision.


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


Immediate postoperative.


Sutures.


One-month follow-up.


Eighteen-month follow-up.


Preoperative smile of case 2.


Immediate postoperative of case 2.


Nine-month follow-up of patient.


Preoperative smile of case 3.


Twelve-month follow-up of case 3.


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


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


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


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


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


RAO. Without RV) view.


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


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


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


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


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


Preoperative picture of scalp swelling.


Intraoperative picture of mass excision.


Distinctive cytoplasmic membrane staining pattern with CD99 (x600).


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


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


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


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


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


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


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


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


Post-operative period.


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


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


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


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


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


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


With Valsalva maneuver.


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


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


Renal angiography is showing right renal artery.


Renal angiography is showing left accessory renal artery.


Renal angiography is showing left renal artery.


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


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


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


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


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


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


High-arched palate in the patient.


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


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


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


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


(A) Endoscopic ultrasound of pancreatic mass.


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


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


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


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


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


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.