An 81-year-old man presented to the emergency department with acute onset abdominal pain, accompanied by loss of appetite and general weakness that had started a few weeks earlier and worsened recently. No fever was noted at home. Physical examination revealed multiple purpura on the trunk and both lower extremities with gum bleeding, but no lymph node enlargement or organomegaly was detected by palpation. His medical history was significant for stage IIIC (pT4bN2aM0) ascending colon cancer treated with right hemicolectomy and partial duodenopancreatectomy with splenectomy in July 2006, followed by adjuvant chemotherapy. He had been disease-free until March 2010. Complete blood cell counts showed hemoglobin level of 12.5 g/dL, total leukocyte count of 15 × 10^9/L with 70% neutrophils, 15% lymphocytes, 9% monocytes, 4% eosinophils, and a severely low platelet count of 11 × 10^9/L. Blood biochemical test results were unremarkable. Ascites analysis revealed white blood cell count of 52,210/mm³, protein level of 2,600 mg/dL, albumin level of 2.5 g/dL (serum albumin 3.5 g/dL), and serum-ascites albumin gradient of 1.0 g/dL. LDH levels were markedly elevated in both serum (1,866 U/L) and ascites (2,200 U/L), compared to normal values of 101-202 U/L.

(A-D) CT scan.

CT scan images (A-D) show diffuse peritoneal thickening (black arrows), diffuse nodular infiltration of omentum (white arrowheads), bowel wall thickening (black arrowhead) and ascites (asterisk).

(A) Histological section, 400× magnification. (B) Immunohistochemical staining for CD20. (C) Immunohistochemical staining for Ki-67. (D) Immunoglobulin heavy chain rearrangement study.

A) Malignant lymphoid cells with large hyperchromatic nuclei and high nuclear/cytoplasmic ratio are evident. (x400). B) Tumor cells express B cell marker, CD20. C) Tumor cells demonstrate high Ki67 index. D) Immunoglobulin heavy chain rearrangement study demonstrate clonal rearrangement. IgH(+)Ctl; positive control, (-)Ctl; negative control; D.W; distilled water, C10-3256; case with negative control, p10-14338/CB; present case

Diffuse large B-cell lymphoma presenting with peritoneal lymphomatosis and ascites

Diffuse large B-cell lymphomas

Diseases of peritoneum, unspecified

Ascites


A-year-old male presented asymptomatically to the hospital on November 9, 2010, for evaluation of abnormalities found on a chest radiogram during a routine health check for military service. He was a current smoker with a 1.5 pack-year smoking history and had eight elder sisters but no family history of pulmonary disease. On admission, physical examination revealed no abnormal findings and laboratory data were normal. Pulmonary function testing showed normal results with FVC of 4.48 liters (115% predicted), FEV1 of 3.83 liters (107% predicted), FEV1/FVC ratio of 85%, and DLCO of 33.4 mL/mmHg/min (126% predicted). Bronchoscopy was performed with bronchoalveolar lavage fluid analysis showing 80% lymphocytes and 15% monocytes, with negative results for tuberculosis or malignancy. Transbronchial lung biopsy revealed a few alveolar tissues.

Chest radiograph, posteroanterior view.

Chest radiogram (posteroanterior view) shows bilateral diffuse fine reticulonodular opacities in both lungs.

(A) Chest HRCT, basal lung zone. (B) Chest HRCT, apical lung zone. (C, D) Chest CT, mediastinal window.

Chest CT images of a patient with pulmonary alveolar microlithiasis. (A) HRCT image at the level of basal lung zone shows micronodules (white arrows), inter lobular septal thickening (black arrows), subpleural interstitial thickening (arrow heads), and some areas of ground- glass opacity (asterisk). (B) HRCT image at the level of apical lung zone shows micronodules (white arrows) and subpleural cystic changes (black arrows). (C, D) Mediastinal window scans show microcalcifications along the subpleural regions and some interlobar septa.

(A) Lung biopsy, H&E staining, 20× magnification. (B) Lung biopsy, H&E staining, 200× magnification.

Histological findings of video-assisted thoracoscopic surgery biopsy. (A) Small calcified nodules were scattered along the alveolar walls (H&E stained, × 20). (B) The small nodule was proved to be a lamellar microlith (H&E, × 200).

Pulmonary alveolar microlithiasis

Cardiovascular and respiratory disorders


An 82-year-old Korean female patient presented to the National Police Hospital in Seoul on October 22, 2007, complaining of shortness of breath and dizziness that had lasted for years. She was a lifelong resident of Uljin-gun, a remote rural area in the eastern mountains of Gyeongsangbuk-do, Korea, with no history of overseas travel. She cultivated a small dooryard farm at home. Her past medical history included treatment for anemia with two transfusions in 2006 at a general hospital in Seoul, and she had also been treated for pulmonary tuberculosis at another hospital due to exertional dyspnea. On physical examination at admission, she appeared pale, ill-looking, and undernourished, but her vital signs were stable. Laboratory results revealed severe anemia with microcytic and hypochromic red blood cells, along with iron deficiency. Stool examination was negative for occult blood but was not examined for parasite eggs. Other biochemistry examinations including electrolytes, liver and renal functions were within normal limits. Serum ELISA against tissue invading helminthiases was negative for Clonorchis, Paragonimus, cysticercus, and sparganum.

(A) Gastroduodenoscopy performed at hospital admission, endoscopic views of the duodenal mucosa.

Figure 1 presents gastroduodenoscopy images of the duodenum acquired at the time of hospital admission, revealing hyperemic mucosa and numerous movable, blood-tinged roundworms consistent with Necator americanus infection; the images correspond to endoscopic views of the duodenal mucosa, showing the active presence of live parasitic worms without additional staining or magnification annotation, and depict the anatomical site as the duodenum.

(A-C) Gastroduodenoscopy of the duodenum.

Gastroduodenoscopy findings of the duodenum and hookworms. (A-C) Hyperemic mucosa and numerous movable blood tinged roundworms were found in the duodenum.

(A, B) Scanning electron microscopy, head region of N. americanus. (C) Scanning electron microscopy, tail region of female N. americanus.

Scanning Electronic Microscopy photographs of N. americanus. (A, B) Head part of a worm, showing the buccal cavity with one pair of cutting plates. (C) Tail part of a female worm.

Severe anemia by Necator americanus infection

anaemia NOS[Severe]

Diseases of the blood or blood-forming organs

Infection due to Necator americanus


A 42-year-old female presented with effort angina for 2 months. She had no major cardiovascular risk factors such as diabetes mellitus, hypertension, dyslipidemia, smoking, or family history of cardiovascular disease. Five years prior to admission, she suffered tinnitus, vertigo, and hearing disturbance that progressed to sensorineural hearing loss despite medical therapy. Four years prior, she had been treated for recurrent ocular problems including red eyes, photophobia, ocular pain, and increased tearing for 2 years. At admission, her vital signs showed brachial blood pressures of 90/50 mmHg in the left arm and 96/57 mmHg in the right arm, pulse rate of 64 beats per minute, respiration rate of 16 breaths per minute, and body temperature of 36.5°C. Physical examination revealed a diastolic murmur at the cardiac base and systolic bruits over bilateral subclavicular area. No abnormal findings were observed in the abdomen, joints, and skin. Neurological examination was normal except for neurosensory deafness. Ophthalmologic examination showed normal visual acuity, corneas, anterior chambers, pupils and iris at that time. Laboratory tests showed white blood cell count 8,100/mm³, hemoglobin 10.7 g/dL, platelet count 439,000/mm³, erythrocyte sedimentation rate 73 mm/hr, and C-reactive protein 2.6 mg/dL. She tested negative for autoimmune tests (antinuclear antibody, antineutrophil cytoplasmic antibody, rheumatoid factors, antiphospholipid antibodies, complements) and negative for syphilis serology tests (VDRL, FTA-Abs).

(A) Baseline electrocardiogram. (B) Electrocardiogram during exercise at Bruce protocol stage 2.

Exercise electrocardiogram. A: baseline electrocardiogram shows normal sinus rhythm with nonspecific ST-T changes. B: electro-cardiogram during exercise at Bruce protocol stage 2 reveals significant ST segment depressions at lead II, III, aVF, V4, V5, V6.

(A) Transesophageal echocardiogram, systolic phase, aortic valve. (B) Transesophageal echocardiogram, diastolic phase, aortic valve. (C) Transesophageal echocardiogram, descending thoracic aorta.

Transesophageal echocardiogram shows retracted tips of aortic cusps in systolic phase (A), moderate aortic regurgitation in diastolic phase (B), and increased wall thickening at the descending thoracic aorta (C). Arrow indicates thickened intima.

(A) Coronary angiography, right anterior oblique view. (B) Coronary angiography, left anterior oblique view. (C) Subclavian angiography, anteroposterior view.

Angiography shows ostial left main stenosis (A), ostial right coronary stenosis (B), and bilateral subclavian stenosis (C). A: right anterior oblique view. B: left anterior oblique view. C: anteroposterior view.

(A) Intravascular ultrasound of distal left main coronary artery. (B) Intravascular ultrasound of ostial left main coronary artery.

Intravascular ultrasound shows increased intimal thickening at distal left main coronary (A) and negative remodeling with stenosis at ostial left main coronary artery (B).

Cogan's syndrome with angina resulting from coronary ostial stenosis caused by aortitis

Cogan syndrome

Diseases of the musculoskeletal system or connective tissue

Angina

Congenital coronary ostial stenosis

Aortitis in diseases


A 53-year-old woman presented with fatigue and complete heart block. She had a significant medical history of neuro-sarcoidosis that was diagnosed six years previously, which initially presented with diplopia and hydrocephalus and was confirmed by meningeal biopsy. At that time, an MRI-conditional programmable ventriculo-peritoneal shunt had been inserted. Her transthoracic echocardiography was normal at the time of presentation with complete heart block.

Chest radiograph.

Chest radiograph shows MRI-conditional pacemaker with white arrows indicating the MRI-conditional marker on the header of the pacemaker and similar wavy line markers on the leads

Brain MRI.

Brain MRI shows susceptibility artefact associated with the shunt, but otherwise stable intracranial disease with scattered white matter lesions and persistent dural enhancement

SSFP cine MRI, 4-chamber view.

SSFP cine 4 chamber view shows some susceptibility artefact from the pacemaker leads

(left) Cardiac MRI, T2-weighted STIR images. (right) Cardiac MRI, late gadolinium enhancement.

Cardiac MRI with T2-weighted STIR images (left panel) showing oedema (arrow) and (middle and right panels) extensive patchy late gadolinium enhancement typical of sarcoid.

Cardiac sarcoidosis with oedema suggesting active disease

Sarcoidosis


A 21-year-old man was admitted to the hospital with sudden onset of severe holocranial pain and diplopia. The headache was continuous, worsening with position changes, particularly in upright positions, and was relieved by lying flat. The patient reported photophobia and nausea but denied phonophobia, vertigo, tinnitus, or vomiting. He had no history of head or neck trauma and no fever or rashes were present. Neurological examination was normal except for cranial nerve evaluation which revealed diplopia due to mild restricted adduction of the left eye toward right and ipsilateral partial ptosis. Pupils were equal and reactive to light both directly and consensually, as well as to accommodation. The diplopia resolved within 2 hours. Saccadic eye movements and ocular examination were normal with visual fields full to confrontation. Brain CT scan was negative for hemorrhage. Routine blood tests, rheumatic and autoimmune tests, paraneoplastic markers, serum angiotensin-converting enzyme levels, thoracic radiography, and abdominal ultrasound were all normal. CSF opening pressure was 5 cmH2O with lymphocytic pleocytosis of 20 cells/ml detected.

Sagittal T1-weighted brain MRI.

Sagittal T1-weighted brain MRI showing mild descent of the brainstem with mild cerebellar tonsillar herniation and flattening of pontine surface, dilated sagittal sinus and enlargement of the pituitary gland, associated with subdural hematoma surrounding bilaterally the fronto-parietal and temporo-polar regions consistent with hygroma.

Sagittal T2-weighted spinal MRI of the cervical region (C4 to atlanto-occipital junction and C5-D1 level).

Sagittal T2-weighted spinal MRI demonstrating subdural fluid collection in the anterior section of the spinal cord at C5-D1 level with consequent posterior dislocation, and symmetrically dilated vascular structures with abnormal epidural venous engorgement anterior to the cervical cord without cord compression from C4 level up to atlanto-occipital junction.

Coronal T1-weighted brain MRI with gadolinium.

Coronal T1-weighted brain MRI post-gadolinium showing diffuse pachymeningeal enhancement in supratentorial and infratentorial regions, with dural enhancement also notable in the spinal cord at C1-D1 level.

MR myelogram of the upper and lower spinal subdural space.

MR myelogram of upper and lower spinal subdural space showing no signs of spreading cerebrospinal fluid at the level of the cervical and dorsal root pockets.

Headache attributed to low CSF pressure (spontaneous intracranial hypotension) with transient isolated third nerve palsy

Headache attributed to low cerebrospinal fluid pressure

Headache due to other causes of low cerebrospinal fluid pressure

Spontaneous intracranial hypotension

isolated trochlear nerve palsy


A 40-year-old woman presented to the hospital on November 9, 2009, with an extensive hematoma on the right hip area. She had delivered a full-term baby from her second pregnancy uneventfully 65 days prior via Cesarean section at an outside institution. Five days after delivery, she developed vaginal bleeding and high fever up to 40°C, was transfused with packed red blood cells for anemia (Hb 6.0 g/dL), and received uterine arterial embolization therapy via femoral artery to control bleeding. Subsequently, swelling and pain in the right femoral area where arterial embolization was performed progressed to hematoma. Her medical history revealed no personal or familial history of bleeding diathesis or significant medical conditions. She had a history of induced abortion 2 years previously with normal coagulation times at that time (aPTT 26.1 sec and PT 0.91 INR). Initial coagulation studies showed markedly prolonged aPTT which was not corrected on immediate 1:1 mixing study with normal plasma. Mixing test with prolonged incubation for 1 and 2 hours at 37°C showed further prolongation, compatible with delayed-acting inhibitor pattern. Factor assays revealed markedly decreased FVIII activity at severe level, while other factor activities were within normal ranges. Anti-FVIII antibody assay revealed high-titer FVIII inhibitor. Tests for anti-phospholipid antibodies were negative for anticardiolipin antibodies and anti-beta 2 glycoprotein I antibodies, while lupus anticoagulant tests were positive (PTT-LA 138.1 sec and Staclot LA 20.4 sec).

Graph tracking aPTT values (seconds) and FVIII inhibitor levels (BU/mL) from C-section delivery through day 224 postpartum.

Shows the clinical course tracking aPTT values (in seconds) and FVIII inhibitor levels (in BU/mL) over time from C-section delivery through day 224 postpartum, demonstrating the progression and eventual resolution of coagulation abnormalities

Postpartum acquired hemophilia A with high-titer FVIII inhibitor

Postpartum coagulation defects[Acquired haemophilia]

congenital factor VIII disorder


A 34-year-old woman was admitted to the hospital with multiple painful nodules in both legs and bluish discoloration of the left 4th fingertip, which was first recognized a few days before admission. She had no smoking history and no history of Raynaud's phenomenon, frostbite, or recurrent fetal loss. About one month prior to admission, she experienced a sore throat. Physical examination revealed blood pressure of 100/70 mmHg, pulse of 68/min, respiratory rate of 22/min, and temperature of 36.5°C. Multiple tender nodules were found on both legs with shallow ulcers over the lateral malleolus. Radial pulses were symmetric and strong, and Allen's test was normal. Cardiac and abdominal examinations were normal.

Clinical photograph of the left hand.

clinical picture shows erythematous nodules on palm and ischemic change of the distal phalanx of the left 4th finger

Skin biopsy.(H&E, ×100)

Skin biopsy demonstrating leukocytoclastic vasculitis of medium sized artery with massive cellular infiltrate consisting mostly of polymorphonuclear cells

Cutaneous polyarteritis nodosa with vasculitic arterial occlusion of finger

Cutaneous polyarteritis nodosa

Acute arterial occlusion


A 56-year-old man, 172 cm in height and 85 kg in weight, was scheduled for tonsillectomy to rule out tonsillar cancer. He had a medical history of hypertension and non-insulin dependent diabetes since the last 5 years and was taking Valsartan, Amlodipine + Atorvastatin, Sulodexide, Fenofibrate, Aspirin, Pregabalin and Glibenclamide + Metformin. During endocrinology clinic follow-up, chest X-ray showed three small well-defined nodular opacities in the left lower lung field and high-resolution computed tomography of chest showed suspicious metastatic nodules in lower lobes of both lungs and a small nodular lesion with high attenuation in the ampulla of Vater. Esophagogastroduodenoscopy showed no specific findings except gastric erosion and duodenal ulcer. Abdominal ultrasound, colonoscopy, and positron emission tomography-computed tomography were performed, but the original cancer lesion could not be detected. However, chest CT for CT-guided needle aspiration biopsy showed lymph node enlargement in the left oropharynx which could be the suspected primary focus. Preoperative laboratory tests were all within normal limits. The electrocardiogram showed nonspecific ST abnormality with normal sinus rhythm at a rate of 93 beats/min and a transthoracic echocardiogram showed normal sized cardiac chambers and normal global left ventricular systolic function with an ejection fraction of 58%. A treadmill exercise stress test showed equivocal changes in stage 4. His functional capacity was more than 4 METs and he had no specific symptoms, but he had a lot of concerns about the progress and prognosis of pulmonary nodules that might be cancer metastasis. He denied any symptoms of chest pain or dyspnea preoperatively. Before anesthesia induction, his blood pressure was 165/97 mmHg, heart rate was 76 beats/min and peripheral oxygen saturation was 97%.

Chest radiograph, anteroposterior view, immediate postoperative period.

Immediate postoperative chest AP radiograph shows increased opacity in bilateral perihilar areas

Electrocardiogram performed postoperatively.

Postoperative electrocardiogram shows ST segment elevation in leads V2-4 and T-wave inversion in leads I, aVL, V2-6

Transthoracic echocardiography of the left ventricle.

Transthoracic echocardiography shows left ventricular dysfunction with apical ballooning resembling the octopus trap (takotsubo)

Stress-induced cardiomyopathy


A 23-year-old Korean female presented to the emergency clinic with visual disturbance and visual field defect in her left eye that developed 1 day prior. She had been experiencing recurrent visual field defects in both eyes and headache for 6 months, which became aggravated 1 month before presentation. Two days later, she developed sudden hearing loss in her left ear. Three weeks after initial presentation, she complained of visual field defect in her right eye, and two days later was admitted for tinnitus and severe headache with arm numbness. She denied having diabetes, hypertension, connective tissue disease, tuberculosis, hematologic disease, cardiovascular disease, oral contraceptive use, or pregnancy. On initial examination, pupils were reactive to light without relative afferent papillary defect. Corrected visual acuity was 20/20 in right eye and 20/25 in left eye. IOP was 18 mmHg in both eyes. Slit lamp examination showed no abnormal findings in anterior segment of both eyes. Laboratory tests including lupus anticoagulant, anticardiolipin antibody, erythrocyte sedimentation rate, and C-reactive protein were all normal. Cerebrospinal fluid analysis showed a slight increase in protein concentration (74.4 mg/dL) without evidence of oligoclonal bands. There were no specific hematologic or rheumatologic abnormalities.

(A) Fundus photograph. (B) Fluorescein angiography.

Fundus photo showing edematous lesions in the supra-temporal area (A). Fluorescein angiography, showing a hyperfluorescent arterial wall proximal to the obstructed branch retinal artery (B).

Visual field test of both eyes.

Visual field test showing an infra-nasal field defect in her left eye corresponding to the obstructed lesion and a small field defect in her right eye.

Pure tone audiometry of the left ear.

Pure tone audiometry, showing decreased sensitivity to low-frequency sounds in the left ear.

(A, B) Brain MRI, diffusion weighted imaging. (C) Brain MRI, sagittal view, FLAIR sequence.

Magnetic resonance image of the brain. (A, B) Diffusion weighted images, showing a diffusion restricted lesion in the corpus callosum and left fornix. (C) Sagittal Fluid-attenuated inversion recovery (FLAIR) image showing a focal signal change in the corpus callosum.

Susac syndrome


A 54-year-old woman with no significant past medical history presented with progressive 4-extremities weakness and sensory changes, followed by urinary difficulty over the course of 1 month. Physical examination revealed increased deep tendon reflexes, positive Babinski sign, and decreased motor power with MRC grade 2 strength on the right side and MRC grade 4 strength on the left side. Pinprick and temperature sensation was decreased from C4 level, dominantly on the left side, while vibration and proprioception were decreased, dominantly on the right side. Hoffman's and Tromner's signs were increased in both hands. Serological studies for systemic autoimmunity, including rheumatoid factor and antinuclear, anti-dsDNA, anti-SSA/SSB, and antiphospholipid antibodies, showed no abnormality. Cerebrospinal fluid analysis including biochemistry, IgG index and oligoclonal band was normal. Angiotensin converting enzyme was mildly elevated to 56 U/L (normal <52 U/L). Systemic evaluations showed no disease activity in other organs using brain MRI, chest and abdominal computed tomography, and nerve conduction study.

MRI of the cervical spine, T2-weighted sequence, C4 to C6 level.

Initial cervical spine MRI revealed increased T2 signal from C4 to C6 level, edematous expansion of the cord and intense nodular enhancement, raising suspicion for spinal cord tumor, demyelinating disease and acute transverse myelitis.

Spinal MRI performed at one-month follow-up.

Follow-up spinal MRI one month later showed more extended lesion relative to previous MRI, highly suggesting spinal cord tumor such as intramedullary astrocytoma.

Cervical cord lesion biopsy, H&E staining, 200× magnification.

A: The specimen biopsied from the cervical cord lesion was examined using hematoxylin and eosin (H&E) staining at 200× magnification, revealing multinucleated giant cells, lymphocytes, and aggregated histiocytes within granulomatous inflammation that is consistent with non-caseating granuloma characteristic of sarcoidosis.

(B) AFB staining. (C) PAS staining.

AFB staining did not show mycobacterium tuberculosis and PAS staining did not reveal fungus (B,C).

Neurosarcoidosis


13-year-old girl with a multiply recurrent hypothalamic/chiasmatic pilocytic astrocytoma with ventricular metastases. Had never received steroids or bisphosphonates. After 16 courses of treatment, complained of wrist pain. Physical examination revealed tenderness to palpation of the left dorsal wrist with decreased range of motion.

(A) Wrist radiograph. (B) MRI of the wrist.

Initial wrist radiograph did not reveal any bony abnormalities. MRI of the affected wrist revealed diffuse bone marrow edema with mild fragmentation and collapse of the lunate bone consistent with Kienbock's malacia (osteonecrosis of the lunate bone).

Bevacizumab-associated osteonecrosis of the lunate bone (Kienbock's malacia)

Osteonecrosis

Kienböck disease

Orthopedic and connective tissue disorders


A 7-year-old Korean boy presented with a 1-day history of cough, fever, and aggravating dyspnea in November 2009. On physical examination, breath sounds were decreased in the left lung. Real-time polymerase chain reaction (RT-PCR) for H1N1 was positive. Laboratory studies revealed hemoglobin of 13.2 g/dL, white blood cell count of 10,600/μL (polymorphonuclear cells 95.8%, lymphocytes 1.5%, eosinophils 2.7%), and platelet count of 318,000/μL. C-reactive protein level was 2.3 mg/dL, erythrocyte sedimentation rate was 6 mm/hr, and antistreptolysin O titer was 105 RU/mL. Anti-mycoplasma antibody was negative. Total IgE exceeded 3,000 IU/mL. Electrolytes, liver and kidney function tests were normal. Arterial blood gas analysis showed pH 7.42, pCO₂ 34.5 mmHg, pO₂ 67.5 mmHg, and HCO₃ 22.3 mmHg. Gram-stain, acid fast stain, potassium hydroxide mounts, Mycobacterium tuberculosis culture, culture for other sputum bacteria, and fungus culture of sputum were all negative. The patient had a known history of allergy to ceftriaxone.

(A) Chest radiograph performed in November 2009. (B) Chest radiograph performed in April 2010.

Chest radiographs at the first attack with H1N1 infection in November, 2009 (A) and second attack with influenza B infection in April, 2010 (B) shows total atelectasis in the left lung and hyperaeration in the right lung.

(A, C) Chest CT at the first attack. (B, D) Chest CT after bronchoscopic removal of bronchial casts.

Chest computed tomography (CT) at the first attack (A, C) reveals left main bronchial obstruction with low attenuated materials and atelectasis of the left lung. Chest CT after bronchoscopic removal of bronchial casts (B, D) shows recovered left lung with good aeration.

Plastic bronchitis associated with 2009 influenza A (H1N1) virus infection

Cardiac procedure related plastic bronchitis

Influenza due to infection with Influenza A/H1N1 virus


A 2-year-old Korean male was admitted for evaluation and management of left hip pain. Physical examination revealed several palpable lymph nodes in the left inguinal area and an ill-defined heterogeneous mass-like lesion in the left anteromedial muscle. Peripheral blood examination showed hemoglobin 9.6 g/dL, white blood cell count 6.83 × 10^9/L, platelet count 182 × 10^9/L, and 5 atypical lymphocytes per 100 white blood cells. Immunophenotyping of neoplastic cells showed positivity for CD45 (99.0%), CD19 (94.84%), CD10 (27.64%), CD20 (94.24%), HLA-DR (95.70%), surface IgG lambda (96.45%), CD13 (22.46%), and CD117 (22.22%), and negativity for CD34 (0.01%), Tdt (0.64%), myeloperoxidase (0.01%), and various T-cell and myeloid markers.

(A) Immunohistochemistry for BCL2, femur neck, 400× magnification. (B) Immunohistochemistry for BCL6, femur neck, 400× magnification. (C) Immunohistochemistry for CD10, femur neck, 400× magnification. (D) Immunohistochemistry for Ki-67, femur neck, 400× magnification.

Immunohistochemistry shows positivity for BCL2 (A), BCL6 (B), CD10 (C), and Ki67 (D) of tumor cells (Femur neck, immunohistochemical stains, 400 × magnification).

(A) Bone marrow smear, Wright–Giemsa stain, 1,000× magnification. (B) Bone marrow biopsy, H&E stain, 1,000× magnification.

Bone marrow smear (A, Wright–Giemsa stain, 1,000 × magnification) and biopsy (B, H&E stain, 1,000 × magnification) reveal abnormal lymphoid cells composed of large and medium sized cells. Large neoplastic cells showed irregular nuclei with 1-2 distinct nucleoli and abundant deeply basophilic cytoplasm. Medium-sized cells showed round nuclei with 1-4 prominent nucleoli and had scantly to moderately basophilic cytoplasm with some vacuoles.

Karyotype analysis by Giemsa–trypsin banding.

FISH analysis using Vysis LSI IGH/MYC, CEP 8 tri-color, dual fusion translocation probe.

FISH analysis using Vysis LSI IGH/MYC, CEP 8 tri-color, dual fusion translocation probe reveals IGH-MYC rearrangement with 2 fusions (IGH-MYC fusions on der(8)t(8;14) and der(14)t(8;14)), 1 orange (native MYC), 1 green (native IGH), and 2 aqua (D8Z2) signals.

B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma (intermediate DLBCL/BL)

B-cell lymphoma unclassifiable with features intermediate between Burkitt lymphoma and diffuse large B-cell lymphoma

Diffuse large B-cell lymphomas

“Burkitt-like” lymphoma


27-year-old male presented with headache, dizziness, nausea, and vomiting for 3 days before admission. Physical examination showed no palpable lymph-node enlargement or hepatosplenomegaly. Laboratory findings showed: WBC count 49.5×109/L, hemoglobin 161 g/L, platelet count 36×109/L, with 95% blasts in peripheral blood smear. Serum lactate dehydrogenase (LDH) was markedly elevated to 13,022 IU/L. Flow cytometry showed leukemic blasts were positive for CD2, CD7, CD5, and CD3, and negative for TdT, CD34, CD13, CD33, CD10, CD19, CD20, and CD22.

Peripheral blood smear, Wright’s stain, 200× magnification.

T-lymphoblastic leukemia. Peripheral blood smear containing leukemic cells (Wright’s stain, × 200)

(B) Bone marrow aspirate smear, Wright-Giemsa stain, 200× magnification. (C) Bone marrow aspirate smear, Wright-Giemsa stain, 1,000× magnification.

Bone marrow aspirate smear showing leukemic cells that are small-to-medium sized, with a high nuclear-to-cytoplasmic ratio (Wright-Giemsa stain, × 200 (B) and × 1,000 (C))

Biopsy section, H&E staining, 100× magnification.

Biopsy section showing hypercellularity with heavy infiltration of immature cells (H&E, × 100)

Karyotype analysis.

(A,B) FISH at initial diagnosis using TCRAD DNA Probe, metaphase (A) and interphase (B). (C) Schematic diagram of positions of RP11-815E21 and RP11-105F23 at Xq22.3; start and end positions from NCBI36/hg18 assembly. (D) FISH using RP11-815E21 and RP11-105F23.

FISH at initial diagnosis using the TCRAD DNA Probe, Split Signal (DakoCytomation, Glostrup, Denmark), which showed 2 red and 2 green abnormal signals in metaphase (A) and interphase (B). A schematic diagram of the positions of RP11-815E21 and RP11-105F23 at Xq22.3 (C). Start and end positions were acquired from NCBI36/hg18 assembly. FISH using RP11-815E21 and RP11-105F23 showing 1 red and 1 green break-apart signal (D).
Abbreviation: TCRAD, T-cell receptor alpha delta.

t-cell acute lymphoblastic leukaemia


49-year-old woman with recently diagnosed hypertension who developed sudden onset aphasia and right hemiplegia

CT of the brain, axial view.

Axial CT showing haematoma in left subcortical region

CT angiogram, sagittal view.

Sagittal dynamic CT-angiogram showing contrast extravasation

(D–F) Dynamic CT-angiography of the brain, three-dimensional reconstructions.

D, E, and F: Three-dimensional reconstructions from dynamic CT-angiography of the brain demonstrate contrast extravasation within the left subcortical region, indicative of ongoing intracerebral bleeding in the acute phase of haemorrhage.

Acute intracerebral hemorrhage (left subcortical) due to presumed hypertension

Intracerebral haemorrhage

hypertension NOS


A 16-year-old Caucasian girl was referred to the hospital due to elevated arterial blood pressure detected during a routine examination at school. She was in good general condition with normal physical and mental development, weighing 49 kg (10th percentile) and measuring 161 cm (25th percentile) with a BMI of 18 kg/m² and Tanner stage III. She had virtually no complaints, though detailed history revealed weakness and fatigability of the upper left extremity, and difficulties in measuring blood pressure on her left arm had occurred 2 years earlier. Family history was unremarkable. Physical examination showed no evidence of heart failure with regular heart rate at 90/min, normal cardiac sounds, and a soft (grade 2/6) systolic murmur audible over the cardiac apex. Vascular bruits over the interscapular and right supra- and subclavian areas were heard on auscultation. The muscles of the upper left extremity were slightly atrophic with decreased tone. The pulse of the left external carotid artery and left radial artery was absent, while femoral pulses were present and equal. Blood pressure measurements revealed significantly elevated systolic pressure on the right arm (192/77 mmHg), difficult measurement on the left arm (approximately 90/52 mmHg), and blood pressure on right and left legs of 137/74 and 134/70 mmHg, respectively. Fundoscopic examination was normal.

Table of spiral computed tomography angiography results, listing anatomical sites of aortic measurement with corresponding diameters in millimeters and z scores.

Table 1, found on page 4 of the document, presents the results of the spiral computed tomography angiography (SCTA) examination, listing anatomical sites of aortic measurement with their corresponding diameters in millimeters and z scores, as well as observed abnormalities. The measurements include the ascending aorta (29 mm, z score 3.87), first transverse segment (20 mm), second transverse segment (19 mm), isthmic region (14 mm, z score −1.87), and the minimal diameter of the descending aorta (8 mm, z score −4.77, which is below the 3rd percentile). The observed abnormalities are described as a smooth external outline of the aorta with an irregular internal outline and laminar calcification in the ascending aorta wall, thickened walls and narrowed lumina of the brachiocephalic trunk, right common carotid artery (proximal portion, about 7 cm in length), and right subclavian artery (proximal portion, about 1 cm in length), complete occlusion of the left common carotid artery and the left subclavian artery, collateral circulation on the thoracic wall and parathyroid vessels, slight thickening of the pulmonary trunk wall, and a normal abdominal aorta and renal arteries.

(A) Spiral computed tomography angiography, cross-sectional slices, level of ascending aorta and descending aorta, proximal section of pulmonary trunk. (B) Spiral computed tomography angiography, cross-sectional slices, level of aortic arch, left internal thoracic artery. (C) Spiral computed tomography angiography, cross-sectional slices, proximal sections of aortic arch branches, left common carotid artery, left subclavian artery. (D) Spiral computed tomography angiography, cross-sectional slices, right vertebral artery, left vertebral artery, left common carotid artery.

Spiral computed tomography angiography examination, cross-section slices presenting circumferential thickening of aortic wall.
a: Level of AAo and DAo with slightly thickened wall of proximal section of pulmonary trunk;
b :evel of aortic arch with nonenhanced L ITA;
c: proximal sections of aortic arch branches with occluded L CCA and L SCA;
d: widening of R VA, lack of opacification of L VA and L CCA (marked with arrows). AAo ascending aorta, AA aortic arch, DAo descending aorta, BCT brachiocephalic trunk, CCA common carotid artery (L left, R right), SCA subclavian artery (L left, R right), VA vertebral artery (L left, R right), ITA internal thoracic artery (L left, R right), PT pulmonary trunk

(A) SCTA vessel analysis protocol, secondary 2D reconstruction of the descending aorta. (B) SCTA volumetric reconstruction, 3D view of aortic arch branches.

SCTA examination—secondary 2D and 3D reconstructions.
a: Vessel analysis protocol—thickened aortic wall with slightly narrowed lumen of DAo;
b: volumetric reconstruction view of branches of aortic arch with occluded L CCA and L SCA marked with arrows

Takayasu arteritis type IIb with pulmonary trunk involvement

Takayasu arteritis

pulmonary artery abnormality


A-year-old woman presented with a change in mental status after a 1-year history of multiple hospital admissions for abdominal pain, nausea, and vomiting. She had undergone primary closure and omental patch operation for spontaneous duodenal perforation one year prior, with gastrointestinal symptoms managed by proton pump inhibitor pantoprazole during this period. Her medical history included craniotomy in 1980 for pituitary macroadenoma. On admission, she demonstrated hypoglycemia with blood glucose of 30 mg/dL and 4-hour fasting glucose of 30 mg/dL, accompanied by elevated plasma insulin (15.0 uIU/mL) and C-peptide (4.16 ng/mL). Laboratory studies revealed markedly elevated fasting plasma gastrin (447.0 pg/mL, normal 0-110 pg/mL), elevated serum calcium (12.1 mg/dL, normal 8.4-10.2 mg/dL), and elevated parathyroid hormone (233.3 pg/mL, normal 8-76 pg/mL). Physical examination findings included neuroglycopenic symptoms secondary to hypoglycemia and symptoms suggestive of severe peptic ulcer disease. Neck CT demonstrated a 2×1 cm soft tissue mass in the dorsal portion of left thyroid compatible with parathyroid adenoma and a right thyroid nodule.

(A) CT scan of the abdomen, pancreas, head portion, mass size 1.5×1.2 cm. (B) CT scan of the abdomen, liver, lateral segment.

CT scan of abdomen, (A) Arrowhead points to 1.5×1.2 cm size hypervascular mass in the pancreas head portion. (B) Arrow showed hypervascular mass at liver lateral segment.

Somatostatin-receptor scintigraphy with [111In] DTPA octreotide, liver.

Somatostatin-receptor scintigraphy with [111In] DTPA octreotide demonstrated strong uptake of the radiotracer in the left lateral segment at the site of the hepatic mass.

Pancreas tumor section, H&E staining, 100× magnification.

A: Histopathological findings of the pancreas tumor are shown as a hematoxylin and eosin stained section at original magnification ×100, demonstrating a well-differentiated pancreatic neuroendocrine tumor.

Immunohistochemical staining of pancreas, insulin marker.

Immunohistochemical stains of pancreatic neuroendocrine tumor are positive for insulin.

Liver section, H&E staining.

Hematoxylin/eosin stained sections show a well differentiated liver neuroendocrine tumor.

Immunohistochemical staining of liver tumor, gastrin antibody, 100× magnification.

B: Immunohistochemical analysis of the liver tumor demonstrates strong positive staining for gastrin in the neuroendocrine tumor cells of the hepatic lesion, using a gastrin antibody at an original magnification of ×100.

Multiple endocrine neoplasia type 1 (MEN 1) with primary hyperparathyroidism, pituitary adenoma, pancreatic insulinoma, and primary hepatic gastrinoma

Multiple endocrine neoplasia type 1

Endocrine, nutritional or metabolic diseases

Primary hyperparathyroidism

anterior pituitary adenoma syndrome

Pancreas insulinoma

Gastrinoma


38-year-old man with past history of stage 1B primary cutaneous melanoma diagnosed 12 years earlier presented with weight loss and anemia. Initial metastatic disease found in GI tract. BRAF V600E mutation was detected. Three months after bowel surgery, imaging showed recurrent disease in right hilum (3.2-cm mass) and small bowel (2.2-cm mass). Initial brain MRI was unremarkable. Subsequently developed 1.5-cm right supraclavicular node (confirmed metastatic melanoma by fine-needle aspirate) and gradual left-sided weakness. Physical examination confirmed left hemiparesis (4+/5 strength). Serum lactate dehydrogenase was normal.

Brain MRI, T1-weighted with gadolinium and T2/FLAIR sequences, axial images, right parietal lobe, mass size 5.5×3.5×5.6 cm.

Brain MRI revealed 5.5×3.5×5.6-cm enhancing cystic mass in right parietal lobe with surrounding vasogenic edema, visible on T1-weighted with gadolinium and T2/FLAIR axial images. No other suspicious lesions or abnormalities noted in brain.

Brain tissue pathology, positive staining for S-100, vimentin, and CD3; negative for MART-1, MITF, and gp100/Pmel17; Ki-67 staining, high proliferative index.

Initial pathology from brain lesion showed hypercellular brain tissue with heterogeneous elements. Tumor cells showed epithelioid morphology, chronic inflammatory infiltrate of CD3+ cells, and positive staining for S-100 and vimentin. MART-1, MITF, and gp100/Pmel17 were nonreactive. High proliferative index shown by Ki-67 staining.

Metastatic melanoma with BRAF V600E mutation, with metastases to GI tract and brain

Metastatic melanoma of unspecified site

gastrointestinal disorder NOS

brain metastases


A 63-year-old female patient with no previous medical history presented with acute onset of dyspnea and facial swelling lasting one month. Physical examination revealed jugular venous engorgement that worsened in the right decubitus position, a grade 3/6 cardiac systolic murmur, third gallop, right upper quadrant tenderness, and decreased breathing sounds in both lungs. ECG showed sinus tachycardia with normal QRS axis. Laboratory findings showed remarkably elevated lactate dehydrogenase at 1,549 IU/L with normal blood count.

(A) Transthoracic echocardiography. (B) Transesophageal echocardiography.

Tranthoracic echocardiography (A) and transesophageal echocardiography (B) showed a 6.5 cm mobile mass in the right atrium and a 3.5 cm mobile mass in the left atrium (arrows).

(C, D) Coronary angiography.

Coronary angiography revealed no stenotic lesions, but we observed feeding vessels (arrows) from the left circumflex artery and the proximal right coronary artery to the primary cardiac lymphoma (C and D).

(A, B) Cardiac CT.

Cardiac CT (A and B) showed huge bi-atrial masses with invasion into the atrial septum, pericardium and myocardium.

Positron emission tomography-CT of the heart, pericardium, mediastinal, and right supraclavicular lymph nodes.

Positron emission tomography-CT showed markedly increased fluorodeoxyglucose uptake in the heart and pericardium as well as mediastinal and right supraclavicular lymph nodes invasion.

Surgical Biopsy of Cardiac Mass.(A) Hematoxylin-Eosin staining, 400× magnification. (B) Immunohistology, CD20 positive, CD3 negative.

Hematoxylin-Eosin staining (high power field, ×400) (A) was consistent with a diffuse large B cell lymphoma. This was confirmed by immunohistology. The cells were CD20 B positive (B) and CD3 T negative.

Primary cardiac lymphoma - diffuse large B-cell lymphoma

Lymphoma NOS

Diffuse large B-cell lymphomas


A 63-year-old man was admitted with a 4-day history of progressively worsening symptoms beginning with aching in his elbows and decreased appetite. He subsequently developed difficulty forming words, mild light-headedness, and difficulty swallowing liquids, with a severe gagging sensation when attempting to drink water that resolved when he spat it out. He became increasingly anxious and stopped drinking liquids. He experienced intermittent decreased fluency in speech, pruritus at the nape of his neck, and intermittent tremulousness. The patient had a medical history of hypertension, chronic ptosis of the right eyelid, and a tick bite 6 months earlier that was treated with doxycycline. He had received influenza and tetanus vaccinations within the past year. The patient reported a transient pruritic rash on his left shoulder 2 weeks earlier. He lived with his wife in an old house in a semirural region of New England where bats had been seen in his home and in a barn where he had worked during the previous year. On physical examination, he appeared anxious with dry mucous membranes. His blood pressure was 171/80 mm Hg, pulse 86 bpm, temperature 36.4°C, respiratory rate 16 breaths per minute, and oxygen saturation 98% on room air. Neurological examination revealed ptosis of the right eyelid, mild facial twitching, postural hand tremors, dysmetria on finger-nose-finger and heel-to-shin testing without truncal ataxia, symmetrically hyperactive deep tendon reflexes throughout with flexor plantar reflexes, and mild difficulty with tandem walking. His speech was rushed and fluent except for occasional slurred words and pauses for word finding.

Laboratory results from other hospital and on admission; cerebrospinal fluid analysis on second hospital day; blood gas analysis.

Laboratory results showed white-cell count of 12,000 at other hospital and 13,200 on admission with neutrophilia (75.3% and 76% respectively), normal glucose and electrolytes, and normal protein levels. Cerebrospinal fluid analysis performed on second hospital day revealed colorless, clear fluid with no xanthochromia, white-cell count of 39 in tube 1 and 27 in tube 4 (normal 0-5), with 69% lymphocytes and 31% monocytes in tube 4, protein 50 mg/dl (normal 5-55), glucose 84 mg/dl (normal 50-75), and negative PCR for varicella-zoster virus and Epstein-Barr virus DNA. Blood gas analysis showed pH 7.20, indicating metabolic acidosis.

(A) Coronal slice of the right cerebral hemisphere at the level of the thalamus. (B) Frontal cortex section, Luxol fast blue–hematoxylin and eosin staining. (C) Pons section. (D) Cerebellar cortex section.

A coronal slice of the right cerebral hemisphere at the level of the thalamus (Panel A) shows gray discoloration of the cortex and deep nuclei and loss of the usual sharp junction of the gray matter and white matter, as well as necrosis around the third ventricle (Panel A, arrow). The temporal horn of the lateral ventricle is mildly dilated, reflecting loss of brain substance. A section of frontal cortex shows loss of neurons, macrophage infiltration, and gliosis (Panel B, Luxol fast blue–hematoxylin and eosin). There are Negri bodies in the neuron (inset, arrow). Panel C shows tegmental infarction in the pons (upper inset), with neuronal necrosis and macrophage infiltration in the basis pontis (lower inset) (arrows indicate higher magnification). The cerebellum has relative preservation of neurons in the granule-cell layer of the cerebellar cortex, as compared with the neurons of the cerebral cortex, and loss of Purkinje cells (Panel D).

Rabies

Certain infectious or parasitic diseases


A 44-year-old man presented to the emergency department with severe, substernal, burning chest pain radiating to the left arm that had awakened him from sleep 1 hour earlier, accompanied by nausea and nonbilious, nonbloody vomiting. For the past month, he had experienced similar but less intense intermittent chest pain not related to exertion, lasting hours to days, with temporary relief from antacids and omeprazole. He reported no dyspnea, lower-extremity edema, immobility, fever, cough, or trauma. His medical history was unremarkable, and he had not seen a physician for years. He was employed as a physician, denied tobacco, alcohol, or illicit drug use, and had no family history of premature coronary artery disease. Physical examination showed he was afebrile with blood pressure 133/83 mmHg, heart rate 61 beats per minute, oxygen saturation 97% on ambient air, and appeared in considerable distress while clutching his chest. He was thin with midline trachea, regular cardiac rhythm without extra heart sounds, no jugular venous distention or lower-extremity edema, normal breath sounds bilaterally, and nontender chest on palpation. The abdomen was soft and nontender with normal bowel sounds, no organomegaly or lymphadenopathy, and unremarkable skin examination. Laboratory studies revealed troponin level of 0.08 ng/mL (normal <0.10), white cell count of 22,000/mm³ with 74% neutrophils and 18% band forms, platelet count of 771,000/mm³, hemoglobin of 17.5 g/dL, normal coagulation studies, and fasting glucose of 192 mg/dL. The patient recalled being told about a high platelet count of approximately 600,000/mm³ when donating platelets 12 years earlier, but this was not investigated. He reported intermittent generalized pruritus after hot showers but denied bleeding, thrombotic events, burning pain in hands or feet, headache, dizziness, or other neurologic symptoms.

Electrocardiogram performed 2 hours after chest pain onset.

Electrocardiogram obtained 2 hours after chest pain onset showed normal sinus rhythm with ST-segment elevation in leads V2 to V5, I, and aVL, and ST-segment depression in lead III.

ST-segment elevation myocardial infarction (STEMI) with underlying primary myelofibrosis

Acute ST segment elevation myocardial infarction

Primary myelofibrosis


A 74-year-old Greek man presented with a past medical history of hypertension, glaucoma, erosive gastritis, and prostate cancer. He was admitted with symptoms of increasing abdominal pain, nausea, vomiting, lightheadedness, and constipation. On physical examination, he was afebrile and normotensive, with notable findings of temporal wasting, distended but nontender abdomen, 2+ pitting edema of lower extremities, and bilateral palpable axillary lymphadenopathy. Initial laboratory studies showed hemoglobin 8.4 g/dL, WBC count 7.6 K/μL (68% segmented neutrophils, 12% lymphocytes, 20% monocytes), platelets 210 K/μL, electrolytes including sodium 131 mEq/L, potassium 4.3 mEq/L, chloride 96 mEq/L, bicarbonate 27 mEq/L, blood urea nitrogen 24 mg/dL, creatinine 1.0 mg/dL, calcium 9.3 mg/dL, albumin 3.3 g/dL, AST 99 U/L, ALT 41 U/L, alkaline phosphatase 444 U/L, total bilirubin 2.6 mg/dL, prothrombin time 17.1 seconds, activated partial thromboplastin time 48.0 seconds, and international normalized ratio of 1.4.

CT of the chest, abdomen, and pelvis; mass measuring 8.2 × 8.3 cm anterior to the head of the pancreas; multiple enlarged lymph nodes in bilateral axillae, mediastinum, and retroperitoneum; spleen with multiple hypodensities.

CT scan of chest, abdomen, and pelvis revealed an 8.2 × 8.3-cm mass anterior to the head of the pancreas with complete compression and thrombosis of right, left, and main portal veins. Multiple lymph nodes were enlarged in bilateral axillae, mediastinum, and retroperitoneum. The spleen was not enlarged but contained multiple hypodensities throughout suggestive of lymphomatous involvement.

(A) Axillary lymph node biopsy, H&E staining. (B) Axillary lymph node biopsy, Ki-67 immunohistochemical staining, proliferation rate 75–80%. (C) Axillary lymph node biopsy, CD20 immunohistochemical staining. (D) Axillary lymph node biopsy, MUM1 immunohistochemical staining. (E) Axillary lymph node biopsy, BCL2 immunohistochemical staining. (F) Axillary lymph node biopsy, CD5 immunohistochemical staining.

Pathologic evaluation of the axillary lymph node revealed diffuse effacement of nodal architecture with proliferation of medium to large sized atypical lymphoid cells (Fig 2A). Large areas of necrosis were present with extension of atypical cells through the lymph node capsule. The proliferation rate measured by Ki-67 staining was estimated at 75% to 80% (Fig 2B). Immunohistochemical staining showed atypical lymphoid cells expressing CD20 (Fig 2C), PAX5, MUM1 (Fig 2D), BCL2 (Fig 2E), CD5 (Fig 2F), and BCL6, but negative for CD10, CD3, CD23, and cyclin D1. CD5 expression was biphasic with more intense staining of T lymphocytes (CD3) and less intense positive expression of neoplastic B cells (CD20). Epstein-Barr virus in situ hybridization was negative.

(A,B) Bone marrow cytology, H&E staining, low-power field, obtained during acute clinical deterioration.

Figure 3 comprises two subfigures (A and B) displaying bone marrow cytology specimens stained with hematoxylin and eosin. Both images demonstrate morphologic evidence of hemophagocytosis, as indicated by arrows highlighting phagocytic histiocytes containing erythroid and other hematopoietic cells; these samples were obtained during the patient’s acute clinical deterioration and are shown in a low-power field.

CD5+ diffuse large B-cell lymphoma (DLBCL) with hemophagocytosis

Diffuse large B-cell lymphomas

haemophagocytic lymphohistiocytosis NOS


A 46-year-old man receiving chronic hemodialysis for polycystic kidney disease presented to the hospital with new-onset dyspnea and altered sensorium. He had associated thigh swelling. Physical examination revealed mental confusion without fever or hemodynamic instability, jugular venous distension, an apical 5/6 holosystolic murmur, bilateral inspiratory crackles, lower extremity edema, and bilateral shoulder and hip swelling. Transesophageal echocardiography identified moderate regurgitation. Computed tomography of the head was unrevealing.

Clinical photograph of the left thigh, lateral view.

Lateral view of the left thigh showing spontaneously draining 'milky' material

Radiograph of the pelvis and hips, standard projection.

B: Radiograph of the pelvis and hips demonstrating bulky, extra-articular calcifications surrounding the hip joints, consistent with large extraosseous soft tissue calcific masses as described in the context of uremic tumoral calcinosis; no specific scan timing or orientation beyond standard pelvic radiographic projection is noted.

Transesophageal 3-dimensional echocardiogram of the mitral valve from the left atrial perspective in diastole.

Transesophageal 3-dimensional echocardiogram showing the mitral valve from the left atrial perspective in diastole with a large multilobulated calcific mass attached to the posterior mitral leaflet

Uremic tumoral calcinosis (UTC) with mitral valve calcification

tumoural calcinosis

Mitral prosthetic valve stenosis due to calcification


1-year-old girl with unremarkable birth history. At 1 month, developed brief tonic seizures of upper limbs with eye deviation several times daily. At 2 months, developed spasms in clusters following series of brief tonic seizures. By 4 months, experienced approximately 10 spasm clusters daily. Each spasm episode included slight tonic limb contraction, head adverse motion, and eye deviation to the right, lasting about 1 minute. Initially could gaze and track subjects, but development arrested after onset of seizures. Genetic testing revealed heterozygous mutation IVS29+1 G>A in TSC1 gene.

MRI of the brain, T1-weighted sequence, right frontal lobe and left parietal lobe.

Brain magnetic resonance imaging scan showing a slightly hyperintense lesion on T1-weighted images and cortical atrophy in the right frontal lobe involving the superior and medial frontal gyri and in the left parietal lobe.

(A) Ictal single-photon emission computed tomography, axial section. (B) Ictal single-photon emission computed tomography, coronal section.

Axial and coronal sections of ictal single-photon emission computed tomography scans. Increased perfusion was seen over the right central region (white encircled area).

(A) Interictal magnetoencephalography, three-dimensional and sagittal images, brain.

A three-dimensional image and sagittal sections of the interictal magnetoencephalography scans. The region encircled by the white line indicates the cortical tuber. Spike dipoles were clustered at the pericortical tuber, and only one spike dipole was detected above the cortical tuber.

(A) Ictal electroencephalographic (EEG) recording around periodic spasms, time constant 0.1 s. (B) Expanded view of EEG recording in (A), band pass filter 5.7–120 Hz.

Visible fast oscillations recorded around periodic spasms. (a) Ictal encephalographic (EEG) recordings around the occurrence of periodic spasms. A mixture of sharp waves and slow waves were seen just before spasms at P4, T4, and T6 (time constant, 0.1 s). (b) Expansion of the EEG recording in (a) encircled by the black line. Fast rhythmic waves were seen at C4, P4, T4, T6, and O2 (underlined) (band pass filter ranging from 5.7 to 120 Hz).

EEG frequency analysis of right centroparietal areas, gamma activity 60–70 Hz, spectral power measured 100–200 ms before spasms.

EEG frequency analysis showed gamma activity of 60-70 Hz with high spectral power over right centroparietal areas 100-200ms before spasms

Tuberous sclerosis (TS) with periodic epileptic spasms

Tuberous sclerosis

Cryptogenic late-onset epileptic spasms


A 68-year-old woman presented to the hospital with dyspnea (New York Heart Association class 3). On physical examination, she appeared puffy and anemic. Her vital signs showed blood pressure of 100/70 mm Hg, heart rate of 94/min, and respiratory rate of 22/min. Cardiac examination revealed a midsystolic murmur along the sternal border and a bruit was audible over the epigastrium. Her medical history was significant for recurrent epistaxis and multiple episodes of gastrointestinal bleeding. Family history was notable for recurrent epistaxis in her mother, one sister and one daughter.

Clinical photographs of the tongue, finger tips, and cheek.

Shows typical multiple telangiectasias on the tongue, finger tips and the cheek

Chest X-ray, cardiothoracic (CT) ratio=65%.

Chest X-ray showing generalized cardiomegaly (CT ratio 65%) with increased pulmonary vascular markings and pulmonary edema

Computed tomography scans of the abdomen with contrast and 3D reconstruction

CT angiography of the abdomen showed a tortuous and dilated hepatic artery and near total replacement of liver parenchyma by engorged vascular structures with arteriovenous shunt formation

High-output heart failure caused by hereditary hemorrhagic telangiectasia with large hepatic arteriovenous malformations

cardiac failure

Hereditary haemorrhagic telangiectasia

Arteriovenous malformation of large intestine[Hepatic flexure]


71-year-old man initially visited pulmonary outpatient clinic for interstitial lung disease. Presented with sudden worsening of dyspnea and cough. Physical examination revealed inspiratory rales in both lung bases. Laboratory findings showed slightly decreased PaO2 (80.6 mm Hg) on arterial blood gas analysis, with no other significant abnormalities.

Chest CT.

Chest CT showed lobulating contoured hypodense mass measuring 1.7 cm at junction of right atrium and IVC. Markedly dilated coronary sinus noted, with coronary sinus ostium not clearly identified.

CT of the heart.

Cardiac CT revealed dense calcification in bicuspid aortic valve with raphe

CT of the heart.

Cardiac CT showed no continuity between contrast-enhanced lumen of coronary sinus and right atrium, indicating atresia of coronary sinus ostium. Dilated coronary sinus continued to persistent left superior vena cava.

Volume-rendered CT of the heart.

D: Volume-rendered CT image demonstrates the dilated coronary sinus and cardiac veins in a 71-year-old man with atresia of the coronary sinus ostium, persistent left superior vena cava, and bicuspid aortic valve, acquired with multidetector computed tomography to evaluate complex intracardiac and vascular anatomy.

Transesophageal echocardiography of the right atrium.

Transesophageal echocardiography showed 2 x 1 cm oval echogenic mass attached to right atrial wall containing internal anechoic cystic lesion

Eustachian valve cyst associated with atresia of the coronary sinus ostium, persistent left superior vena cava (LSVC), and bicuspid aortic valve

cyst of bone

Coronary sinus orifice atresia or stenosis

Persistent left superior vena cava

Bicuspid aortic valve


A 62-year-old man with chronic hepatitis C virus infection and alcohol-induced cirrhosis presented with 10 days of epigastric pain and vomiting. Laboratory findings revealed an elevated serum lipase level of 6715 U per liter (reference range 0 to 160). On hospital day five, the patient developed nodules measuring 1 cm by 1 cm that became increasingly tender over the following days.

CT of the abdomen.

Computed tomographic image showed peripancreatic inflammation and a large fluid collection in the right side of the abdomen thought to represent a pancreatic pseudocyst.

Clinical photograph of the distal anterior thighs.

Clinical photograph shows annular, pink, blanching areas on the distal anterior thighs with underlying subcutaneous nodules.

Skin biopsy, histopathological examination.

Histopathological examination of skin-biopsy specimen showed lobular panniculitis with fat necrosis and focal saponification.

Pancreatic panniculitis as a complication of acute alcoholic pancreatitis

Pancreatic enzyme panniculitis

Acute alcohol-induced pancreatitis


A 47-year-old man presents with a 1-year history of a mildly pruritic eruption on the trunk and extremities. He has no significant medical history and takes no medications. He denies any recent travel or close contact with persons or animals having a similar eruption. Review of systems is negative. On physical examination, sensation is intact over the affected skin. Examination of skin scrapings using potassium hydroxide is negative for hyphae, and there is no palpable lymphadenopathy.

Clinical photograph of the skin at the time of clinical presentation.

Figure 1 is a clinical photograph depicting hypopigmented patches with fine scaling on the right upper thigh of the patient. The image documents the presence of round hypopigmented lesions with fine cigarette-paper scaling, primarily located on the proximal arms, hips, thighs, lateral chest wall, and flanks on skin examination. The figure was acquired at the time of clinical presentation, and its content is a gross clinical view demonstrating the appearance and distribution of skin lesions in this patient. No laboratory, imaging, or histopathological modalities are represented, and no specific orientation or magnification applies to this gross clinical photograph.

Skin biopsy from the hip,

Skin biopsy from patient's hip demonstrating atypical lymphocytes with prominent epidermotropism and focal pigment incontinence in the papillary dermis and at the dermoepidermal junction. The lymphocytes in the epidermis are larger than those in the dermis and may demonstrate cerebriform nuclei

Mycosis fungoides


A 29-year-old man presented to the hospital after several weeks of lumbar pain and fever up to 38°C. He had no significant past medical history. Physical examination revealed vital signs of blood pressure 130/80 mmHg, heart rate 121/min, and body temperature 38.2°C. There was no lymphadenopathy or hepatosplenomegaly detected on examination. Laboratory tests showed anemia with hematocrit 31.8% and hemoglobin 11.8 g/dL, white blood cell count 3.92 × 10³/μL, elevated liver enzymes with AST 78 IU/L and ALT 71 IU/L, and markedly elevated lactate dehydrogenase 1,591 IU/L. Serum cortisol level was 17.47 μg/dL at 8 AM and ACTH level was 12.1 pg/mL (normal range: 10-90). Ten days after admission, the patient developed pancytopenia with WBC 2.88 × 10³/μL, Hb 10.7 g/dL, and platelets 129 × 10³/μL. Bone marrow biopsy was negative for specific hematologic or malignant disorder.

CT scan of adrenal glands.

CT scan reveals enlargement surrounding both adrenal glands, especially left side, and hyperattenuating fat suggesting inflammatory condition or hemorrhage.

(B) Chest radiograph, posteroanterior view. (C) Chest radiograph, left decubitus view.

On the chest radiographys, blunting of left costophrenic angle (arrowhead) on the posteroanterior view (B) and fluid shifting (arrowheads) in the left decubitus view (C) demonstrate the presence of pleural fluid in left pleural space. There is no abnormal consolidative or mass-like lesion in both lung fields.

(A) Abdominal MRI, T1-weighted sequence, surrounding both adrenal glands. (B) Abdominal MRI, T2-weighted sequence, surrounding both adrenal glands.

Magnetic resonance imaging (MRI) of the abdomen. The enlargement surrounding both adrenal glands which is aggravated compared with the previous CT scan. The isosignal intensity on T1-weighted image (A) and subtle low signal intensity on T2-weighted image (B) around both adrenal glands suggest adrenal hemorrhage or adrenalitis such as adrenal tuberculosis.

(A) Follow-up CT scan of the abdomen. (B) Follow-up CT scan of the abdomen.

Follow up CT scan of the abdomen. (A) The enlargement surrounding both adrenal glands with low attenuation which is more aggravated and extended to the retroperitoneal space compared with the previous CT scan and MRI. (B) The enlargement of multiple para-aortic lymph nodes which are not evident in the previous CT scan are detected on this study.

PET/CT scan of the adrenal glands, retroperitoneal space, and cervical, mediastinal, and paraaortic lymph nodes.

PET/CT scan reveals variable intensities of FDG uptake in both adrenal glands and surrounding retroperitoneal space, and in the cervical, mediastinal and paraaortic lymph nodes.

(A) Cervical lymph node, H&E staining, 100× magnification. (B) Cervical lymph node, H&E staining, 400× magnification. (C) Cervical lymph node, immunohistochemical staining for Ki-67 (MIB-1). (D) Cervical lymph node, immunohistochemical staining for CD45. (E) Cervical lymph node, immunohistochemical staining for CD30. (F) Cervical lymph node, immunohistochemical staining for CD56. (G) Cervical lymph node, immunohistochemical staining for CD20.

Pathological finding of surgically excised cervical lymph node. (A) The lymph node is well capsulated with marked degree of necrosis (H&E, × 100), (B) Neoplastic infiltrate of relatively pleomorphic lymphoid cells with scanty cytoplasm, irregular nuclear contour, and prominent nucleoli (H&E, × 400). Immunohistochemical staining demonstrate positive nuclear staining with Ki-67 (MIB-1) (C), and positive for CD45 (D), CD30 (E) and CD56 (F), but negative CD20 activity (G).

Non-Hodgkin T-cell lymphoma, natural killer (NK)/T-cell, nasal type

Extranodal NK/T-cell lymphoma, nasal type


A 19-year-old man with no previous medical problems presented with a six-day history of breathlessness and left-sided chest pain that had started acutely. On examination, his respiratory rate was 22 breaths per minute with oxygen saturations of 95% on room air. The patient had no significant past medical history and no other baseline characteristics were reported.

Chest radiograph.

Initial chest radiograph showed a large left pneumothorax with slight mediastinal shift

Pneumothorax


66-year-old male who had total left knee replacement with a Triathlon's prosthesis in 2007 due to severe osteoarthrosis. Three years later, he presented with increasing left knee pain without trauma history. Initial laboratory values showed normal C-reactive protein and lactate dehydrogenase levels, with elevated erythrocyte sedimentation rate of 50mm in first hour. Patient's pain progressively worsened until limited mobility developed.

Knee radiography.

Knee radiography revealed distal femur fracture and osteolysis over the lateral femoral condyle

(A) Bone tissue histology, low-power magnification. (B) Bone tissue histology, high-power magnification.

Histologic analysis showed extensive infiltration by large lymphoid cells. Low-power magnification showed bone tissue with fibrosis and vascular proliferation of intertrabecular space near articular surface, with distorted infiltration by lymphoma cells in deeper regions. High-power magnification revealed large neoplastic lymphoid cells with round to ovoid nuclei, multiple nucleoli, and scant cytoplasm

Immunohistochemistry, Ki-67=80–90%.

Immunohistochemistry showed lymphoma cells expressed CD79a, CD20, BCL2, and MUM1, but not CD10 or BCL6. No T-cell markers expressed. Ki-67 showed high proliferation index of 80-90%

Polymerase chain reaction (PCR) analysis for Epstein-Barr virus (EBV) DNA in lymphoma tissue, electrophoresis results.

Figure 4 depicts a polymerase chain reaction (PCR) analysis for Epstein-Barr virus (EBV) DNA, showing electrophoresis results of PCR products from the case reported, with lanes 1 and 2 representing duplicates of the patient sample, lanes 3 and 4 as negative and positive controls respectively, and lane 5 as the molecular weight ladder; this figure confirms the presence of EBV DNA in the lymphoma tissue by PCR, as described and shown in the image and corresponding legend on page 3.

Diffuse Large B-Cell Lymphoma (DLBCL) associated with chronic inflammation in the context of a knee prosthesis

Diffuse large B-cell lymphomas

Chronic mucous inflammation


A 50-year-old man with a history of injecting drug use presented to the emergency department with reduced level of consciousness and left arm weakness following five days of swinging fever, rigors, and headache. His past medical history included hepatitis C infection, paroxysmal atrial fibrillation, and a recent hospital admission for discitis and psoas abscess. On examination, his temperature was 38.4°C but he was hemodynamically stable and alert. Physical findings included a soft early diastolic decrescendo murmur along the left sternal border, splinter hemorrhages, a small digital infarct of the left third toe, and mild upper motor neuron pattern weakness in the left arm. Laboratory investigations revealed normocytic anemia and leukocytosis, with blood cultures growing methicillin-resistant Staphylococcus aureus.

12-lead electrocardiogram, Lead II rhythm strip, performed early in admission.

Lead II rhythm strip on 12-lead electrocardiogram showing development of ECG changes early in admission.

Lead II rhythm strip, PR interval approximately 400 ms.

Lead II rhythm strip demonstrating first degree atrioventricular block with fixed prolongation of the PR interval to approximately 400 ms.

(A) Transoesophageal echocardiography, aortic valve, long axis cross-sectional view. (B) Transoesophageal echocardiography, aortic valve, short axis basal view.

Transoesophageal echocardiography images showing (A) long axis view of aortic valve in cross section and (B) short axis basal view through the trileaflet aortic valve. Blue arrows indicate a large vegetation, while the red arrow highlights the location of the posterior aortic root abscess that was identified at surgery but not clearly evident on the TOE study.

Infective endocarditis with an aortic root abscess

infective endocarditis NOS

Aortic root abscess


A 37-year-old man presented with weakness, irritability, poor concentration. Over the previous three months, he experienced craving for sweets, episodes of weakness sometimes associated with foggy sensorium, feeling cold, clammy, and fatigued during episodes. His wife noticed strange behavior and memory loss for long periods. He gained 30 lb (13 kg) during this time from drinking large amounts of cola for symptom relief. Symptoms recurred when he had not eaten for several hours, particularly at night and in the early morning. Several days prior, he presented to another hospital with similar symptoms. His medical history was unremarkable except for umbilical hernia repair and back surgery 10 years earlier. He took no prescription or over-the-counter drugs, did not smoke, drank beer socially, and denied illicit drug use. Family history was positive for diabetes but he had not been diagnosed with diabetes. On examination, his blood pressure was 124/76 mm Hg, pulse 94 beats/min, respiratory rate 18 breaths/min. He was confused, cold, and clammy. Examination of neurological system, skin, joints, cardiovascular, respiratory, and abdominal systems was unremarkable. Complete blood count, electrolytes, urea, creatinine, and liver panel were normal. Glycated hemoglobin was 5% (31 mmol/mol). Short synacthen test ruled out adrenal insufficiency. Serum parathyroid hormone was 4.6 pmol/L (normal range 1.6-7.2) and serum calcium was normal. Serum prolactin was 21.81 μg/L (reference range 2.60-18.10). Follicle stimulating hormone, luteinizing hormone, and thyroid stimulating hormone concentrations were all in the reference range. Magnetic resonance cholangiopancreatography showed a 1.8 × 1.3 cm hypervascular slightly exophytic lesion arising anteriorly between the head and neck of the pancreas.

Laboratory test results during spontaneous hypoglycemia.

Laboratory test results during spontaneous hypoglycemia showed glucose 2.4 mmol/L (reference 3.6-11), elevated C peptide 3.214 mmol/L (reference 0.298-1.324), markedly elevated insulin 574.0 pmol/L (reference 43.0-194.0), and β-hydroxybutyrate 50 μmol/L (reference 20-420), confirming endogenous hyperinsulinemic hypoglycemia.

Insulinoma (functioning islet cell tumor confirmed by histology as well differentiated islet cell tumor)

Insulinoma

islet cell neoplasm

islet cell neoplasm


55-year-old male initially presented with dyspnea on exertion (DOE) and dizziness. Six months prior, he showed severe global hypokinesia of left ventricle with systolic dysfunction (LVEF 33%). At current admission, patient presented with worsening DOE (NYHA class III) and intermittent dizziness over preceding 15 days. 24-hour Holter monitoring showed maximum RR interval of 4.7 seconds. Echocardiogram showed severe LV dysfunction (LVEF 34.4%), dyskinetic basal septum, basilar cardiac akinesia, and enlarged severely dysfunctional RV without pulmonary hypertension (RVSP 27.64 mm Hg). ACE level was within normal range (27.5 IU/L).

ECG, heart rate 27 beats per minute.

ECG showing complete atrioventricular block with heart rate of 27 beats per minute

Echocardiogram on admission, pulmonary artery systolic pressure 27.64 mm Hg.

B: The echocardiogram (ultrasound) image on admission demonstrates marked enlargement of the right ventricle and right atrium, in addition to severe right ventricular dysfunction, without evidence of pulmonary hypertension, as indicated by a pulmonary artery systolic pressure of 27.64 mm Hg.

Chest X-ray, cardiothoracic ratio 55%.

Chest X-ray showing mild cardiomegaly (cardiothoracic ratio 55%), no hilar lymph node enlargement

Cardiac MRI with gadolinium-DTPA enhancement.

Gadolinium-DTPA-enhanced cardiac MRI showing delayed hyper-enhancement of entire RV wall and subepicardial (apical) or transmural (apical, basal) portions of the left ventricle

ECG performed during endomyocardial biopsy.

ECG showing sustained ventricular tachycardia during endomyocardial biopsy

(A) Coronary CT angiography performed six months prior, right paratracheal lymph node 17.27×8.35 mm. (B) Coronary CT angiography performed six months prior, subcarinal lymph node 18.63×11.97 mm.

A and B: right paratracheal (17.27×8.35 mm) and subcarinal (18.63×11.97 mm) lymph node enlargement discovered incidentally in coronary CT angiography six months prior.

(C, D) Lymph node aspirate.

C and D: lymph node aspirate: noncaseating epitheloid granulomata with giant cells.

Sarcoidosis


A 1-month-old baby girl was referred in May 2011 for management of congenital corneal opacity. She was born of a non-consanguineous marriage with no significant family history. She had a history of feeding difficulty and was diagnosed to have cleft palate at birth. She was found to have raised intraocular pressure during initial examination under anesthesia. Physical examination revealed cleft palate, glossoptosis, and auditory impairment. Examination under anesthesia showed diffuse corneal stromal oedema with central Haab's striae, horizontal corneal diameter of 14 mm in both eyes, and IOP of 30 and 28 mm Hg in the right and left eye, respectively. Gonioscopy showed anterior high insertion of the iris. Posterior segment examination was unremarkable. Refraction was approximately -14 dioptre sphere with 27.5 mm axial length on ultrasound B-scan in both eyes. Orthopaedic assessment showed mild spondyloepiphyseal dysplasia. Genetic assessment showed normal chromosomal pattern.

(A) CT scan of the head with 3D reconstruction. (B) CT scan of the head with 3D reconstruction.

CT scan (head) with 3D reconstruction showing (A) brachycephaly and pseudoproptosis; (B) a fl at nasal bridge, anteverted nostrils, and micrognathia.

Stickler syndrome with Pierre Robin sequence and bilateral congenital glaucoma

Stickler syndrome

Pierre Robin sequence

congenital glaucoma NOS[Bilateral]


A 53-year-old white man with an approximately 2-year history of Sézary syndrome (SS) and previous allogeneic stem-cell transplantation presented with a new right-chest plaque that developed over the previous 4 months. The plaque was situated directly over a chemotherapy port (SlimPort MRI Ultra-Low Profile port containing a silicone catheter and polyurethane components) that had been implanted 13 months earlier. He described steady plaque enlargement above his port over the previous 4 months. Two years before the chest plaque developed, the patient was first evaluated for an erythematous, pruritic rash involving the face and torso. He had lymphadenopathy of the head and neck. Peripheral T-cell lymphoma not otherwise specified was initially diagnosed following biopsy of an enlarged inguinal lymph node. Peripheral blood flow cytometry after CHOP therapy revealed a markedly elevated CD4:CD8 ratio (45:1) with expanded CD4+CD26- compartment. The patient became erythrodermic 1 month after CHOP and was diagnosed with SS by International Society of Cutaneous Lymphoma classification criteria. Approximately 4 months post-transplantation, he first noticed a solitary cutaneous lesion over the implanted port.

Clinical photograph of the right chest.

Shows a 3.5 cm × 3.5 cm pink-red round plaque with arcuate periphery that is firm and nonscaly, with centrally overlying fine white scale, located directly over the chemotherapy port on the right chest

(A) Skin biopsy at initial presentation, H&E staining.

A: On page 2, subfigure A of Figure 2 shows a skin biopsy from initial presentation stained with hematoxylin and eosin (H&E), displaying a patchy small lymphocytic infiltrate predominantly in the superficial dermis.

Immunohistochemistry of skin biopsy, CD3 staining.

Immunohistochemistry showing CD3 expression in the initial skin biopsy T cells

Immunohistochemistry of skin biopsy, CD7 staining, Ki-67=15%.

Immunohistochemistry demonstrating loss of T-cell marker CD7 in the initial skin biopsy, with Ki-67 nuclear staining positive on approximately 15% of cells

Skin biopsy of the chest, no staining or magnification level specified.

Skin biopsy of the chest plaque demonstrates a dense lymphoid infiltrate composed of atypical large cells in the dermis with prominent overlying epidermotropism

Immunohistochemistry of chest plaque, CD30 staining.

Immunohistochemistry of the chest plaque showing CD30 expression by the majority of the large cells, with approximately 50% of the infiltrate composed of CD30+ large-cell T lymphocytes

Large cell transformation (LCT) of Sézary syndrome with CD30+ large T-cell cutaneous lymphoma

Sézary syndrome

Large cell transformation of Sézary syndrome

Sézary syndrome

primary cutaneous CD30+ large T-cell lymphoma


A 51-year-old African American man presented to the emergency department with a primary complaint of confusion lasting one week, brought by his mother. He was otherwise healthy with no significant past medical history and worked as a long-distance truck driver. He had experienced flu-like symptoms three months prior to admission but had recovered completely. He had a 40 pack-year smoking history and consumed two to three beers per week for approximately 30 years. He denied promiscuous sexual history or sexually transmitted infections. Family history was significant for prostate cancer in his father and hypertension in his mother, with no history of leukemia, lymphoma, or bleeding disorders. Physical examination revealed marked splenomegaly extending 10 cm below the umbilicus, hepatomegaly with liver palpable 2 cm below the costal margin, two circumscribed skin nodules measuring approximately 2 cm in diameter on the anterior surface of his left forearm, and expressive aphasia on neurologic examination. There was no peripheral lymphadenopathy. Laboratory findings showed leukocytosis of 60,000/μL with 3% lymphocytes, 90% atypical lymphocytes, 6% segmented neutrophils, and 1% monocytes, anemia of 8.4 g/dL, and thrombocytopenia of 45,000/μL. Flow cytometry analysis revealed abnormal lymphocytes expressing monoclonal lambda light chains, CD19, CD20, CD22, CD11c, CD25, FMC7, and CD103, but negative for CD5, CD10, and CD23. The complete metabolic panel was normal, and extensive laboratory work-up for infectious etiology including HIV, tuberculosis, and fungal organisms was negative.

Peripheral blood smear.

Peripheral blood smear shows immature lymphocytes with delicate hairy cytoplasmic projections characteristic of hairy cell leukemia.

CT of the head with contrast, axial view.

Axial computed tomography scan of the head with contrast reveals numerous high-attenuation areas with surrounding vasogenic edema in the right frontal, left temporoparietal, and bilateral posterior parietal areas.

H&E stained histopathological section of brain parenchyma from left frontal lesion biopsy, performed one week after hospital admission.

Figure 3 shows a hematoxylin and eosin (H&E) stained histopathological section of brain parenchyma obtained via biopsy from the left frontal lesion one week after hospital admission, revealing intracerebral hemorrhage with the presence of abnormal lymphocytes consistent with leukemic infiltration.

(A) Brain biopsy, immunohistochemistry for tartrate-resistant acid phosphatase. (B) Brain biopsy, immunohistochemistry for DBA44.

Brain biopsy specimen shows abnormal lymphocytes that are immunoreactive for tartrate-resistant acid phosphatase (Subfig: A) and DBA44 (Subfig: B), confirming hairy cell leukemia involvement of brain parenchyma.

Hairy cell leukemia with brain parenchymal involvement

Hairy-cell leukaemia

Leukemic involvement of brain parenchyma

disorder of brain NOS


6-year-old Korean girl with normal stature and development. No family history of shortened digits. Normal prenatal and birth history. Presented with shortening of second and third digits on both hands. Physical examination showed short first, second and third digits, with fourth digit being longest and appearing normal. Mild clinodactyly present in fifth digit of both hands. Normal range of motion in all joints. Feet were unaffected. No other skeletal or non-skeletal dysmorphisms.

Radiographs of both hands acquired at age 5 years and 7 months.

Figure 1 presents radiographs of both hands acquired at age 5 years and 7 months, demonstrating bilateral shortening of the first metacarpals with large pseudoepiphyses and shortened middle phalanges of the second, third, and fifth fingers, accompanied by clinodactyly of the fifth fingers; the fourth fingers remain unaffected, the proximal phalanges of both third fingers are shortened, and segmentation anomalies with accessory ossification and an accessory ivory dense epiphysis at the base of the distal phalanx of the left third finger are noted, along with ulnar deviation of the left second finger, radial curvature of the third finger, and retarded carpal bone age.

Brachydactyly type C (BDC) confirmed by molecular genetic analysis showing GDF5 gene mutation c.1312C>T (p.Arg438Cys)

Brachydactyly type C


A 55-year-old man presented to the emergency department with a two-day history of progressive pain in the left lower quadrant. On physical examination, he had a temperature of 38°C and marked tenderness in the left lower quadrant with some tenderness in the suprapubic area. No rebound tenderness was present. Laboratory testing revealed a C-reactive protein concentration of 25 mg/L and a white cell count of 13.8 × 10^9/L.

Graded compression ultrasound of the sigmoid colon.

Graded compression ultrasound image showing compressed sigmoid colon loop with diverticulum and inflamed pericolic fat, consistent with sigmoid diverticulitis.

Diverticulum of sigmoid


An 18-year-old girl presented to the emergency room in a post-resuscitated state after experiencing cardiac arrest at a local hospital where she had been admitted for paralysis and paresthesia of lower extremities that began 2 days prior. She had a 7-month history of recurrent periodic paralysis affecting both lower extremities, typically lasting 2-3 days per episode and aggravated by exercise. At the time of cardiac arrest, her serum potassium had dropped from an initial level of 3.0 mmol/L to 1.8 mmol/L. Upon arrival, she was semicomatous with frequent tachycardia episodes at 200 beats per minute. Physical examination revealed characteristic dysmorphic features including short stature (149 cm, 1.5% percentile for age), broad forehead, and small jaw. There was no family history of cardiac disease. Neurological examination showed complete paralysis with grade 0 strength in all extremities and absent deep tendon reflexes in biceps, triceps, brachioradialis, knee, and ankle.

(A) Clinical photograph of the right fifth finger. (B) Clinical photograph of the left fifth finger.

Figure 1 consists of clinical photographs demonstrating characteristic hand deformities: A shows the patient’s right fifth finger with clinodactyly, indicated by an arrow, and B shows the patient’s mother’s left fifth finger with similar clinodactyly, also marked by an arrow; both images depict the anatomical feature of fifth-digit curvature as a dysmorphic trait associated with Andersen-Tawil syndrome, without reference to imaging modalities, staining, or magnification, and the anatomical site examined is the hand, specifically the fifth finger.

12-lead electrocardiogram, QT interval=657 ms.

Initial 12-lead electrocardiogram showing ventricular bigeminy with two different QRS morphologies and prolonged QT interval of 657 ms with frequent premature ventricular contractions

12-lead electrocardiogram during tachycardia episodes, cycle length 360 ms.

12-lead electrocardiogram during tachycardia episodes showing alternation between wide QRS tachycardia and narrow QRS tachycardia with the same cycle length of 360 ms

12-lead electrocardiogram performed after cardioversion.

12-lead electrocardiogram after cardioversion showing prolonged QT interval with prominent U wave and right bundle branch block pattern, with premature ventricular contractions occurring at the end of T waves consistent with R-on-T phenomenon

Andersen-Tawil syndrome


A 38-year-old woman presented with a three-day history of fever, generalized myalgia and arthralgia, and the sensation of difficulty when breathing in. She had poorly localized discomfort in the left diaphragmatic region on deep inspiration and loose stools over the preceding three days. Three days before presentation she had returned from a three-week trip to Western Australia, and 18 months earlier she had traveled to Vietnam. On examination she appeared well but was febrile at 38.0°C and tachypnoeic at 22 breaths/min, with all other observations normal. Examination of all other systems was unremarkable. Blood tests showed severe neutrophilia (18.9 × 10⁹/L; reference range 2.0-8.1), raised C reactive protein (354 mg/L; reference value <10), and normal renal and liver biochemistry. Chest radiography and urinalysis were normal. Blood cultures taken at presentation were negative.

CT of the chest, abdomen, and pelvis with intravenous contrast.

Computed tomography of the chest, abdomen, and pelvis with intravenous contrast showed a rim enhancing abscess in the left lobe of the liver and a filling defect in the portal vein consistent with portal vein thrombosis.

Amoebic liver abscess


A 58-year-old woman presented in 1998 with frequent episodes of diarrhea, a bleeding peptic ulcer, and severe weight loss. Computed tomographic scanning revealed liver processes with cells that contained chromogranin A and synaptophysin but did not contain insulin, glucagon, somatostatin, gastrin, vasoactive intestinal polypeptide, or serotonin. In 2002, the patient had recurrent gallstone attacks with multiple stones in a contracted but otherwise empty gallbladder, and a bleeding duodenal ulcer was detected. Octreotide scanning in late 2002 showed a tumor in the pancreas. Blood samples obtained from 1998 through 2006 showed that concentrations of insulin, glucagon, gastrin, and substance P in plasma were always normal, somatostatin level was slightly elevated on four occasions, levels of pancreatic polypeptide increased after 2004, and levels of vasoactive intestinal polypeptide were moderately elevated from December 1998 through February 1999.

Graph showing plasma cholecystokinin concentrations measured by radioimmunoassay from 1998 to 2006, and body weight measurements over the same period.

C: Immunohistochemical staining of formalin-fixed, paraffin-embedded tissue from hepatic metastases demonstrates that all tumor cells contain cholecystokinin (CCK), as shown by diffuse positive CCK-specific immunoreactivity in the metastatic lesions.

Formalin-fixed, paraffin-embedded pancreatic endocrine tumor tissue, immunostaining with CCK-specific antiserum.

shows cells from formalin-fixed, paraffin-embedded tissue obtained from the pancreatic endocrine tumor, which were incubated with a CCK-specific antiserum. Immunostaining showed a small focus (brown) in the otherwise CCK-negative tumor.

Immunostaining of hepatic metastases for CCK.

Staining of hepatic metastases showed that all cells contained CCK.

CCKoma syndrome from a neuroendocrine tumor with cholecystokinin secretion

THE - [tricho-hepato-enteric] syndrome

Neuroendocrine tumour NOS


A 77-year-old retired nurse practitioner woman presents to the outpatient neurology clinic with chronic thoracic pain. She has experienced constant pain under her left breast since adolescence that has worsened over time and spread horizontally to involve a band on the entire left side of the chest. She rates the thoracic pain severity from 4 to 9 on a scale of 0 to 10, with improvement when lying down and no alteration with coughing, straining, or palpation. She reports occasional left groin and sacral pain, intermittent numbness in the left leg, bilateral foot pain, and episodic fecal and urinary incontinence requiring protective undergarments. Her medical history includes severe bilateral hearing loss with hearing aids, mild hypoproliferative anemia, hypertension, hypothyroidism, hypercholesterolemia, gastritis, attention deficit-hyperactivity disorder, mild chronic obstructive pulmonary disease, dysthymia, and severe fatigue. During childhood, she had prolonged streptococcal pharyngitis illness. Her medications include metoprolol, levothyroxine, lisinopril, omeprazole, dextroamphetamine-amphetamine, desvenlafaxine, clonazepam, atorvastatin, aspirin, and multiple vitamins. She is 178 cm tall, weighs 67 kg, and has arachnodactyly with normal joint flexibility. Physical examination reveals mild allodynia over the left thorax provoked by touch, normal sensation on pin-prick testing, absent Achilles' tendon reflexes with other reflexes normal, slow ambulation without assistance, and inability to walk with tandem gait.

(A) Thoracic spine MRI, sagittal view, T2-weighted. (B) Thoracic spine MRI, axial view, T2-weighted. (C) Lumbar spine MRI, sagittal view, T2-weighted. (D) Thoracic spine CT myelogram, sagittal view. (E) Thoracic spine CT myelogram, axial view.

T₂-Weighted MRI Images and CT Myelogram of the Thoracic and Lumbar Spine. A sagittal MRI image of the thoracic spine (Panel A) shows exaggerated thoracic kyphosis, as well as a Tarlov cyst in the left T7–T8 neural foramen along the left T7 nerve roots (arrow). An axial view shows the same Tarlov cyst (Panel B, arrow) and a smaller cyst along the right T7 nerve root (arrowhead). A subtle hypointense focus in this right Tarlov cyst most likely represents the actual nerve root; the left T7 nerve root is not clearly visualized in this image. In comparison to the MRI images, a CT myelogram of the thoracic spine in the sagittal (Panel D) and axial (Panel E) views shows contrast enhancement of the Tarlov cyst along the left T7 nerve roots (Panels D and E, arrows), indicating open communication between the cyst and the subdural compartment. The smaller Tarlov cyst along the right T7 nerve root (Panel E, arrowhead) does not enhance and is not clearly in open communication with the subdural compartment. A sagittal MRI image of the lumbar spine (Panel C) reveals multiple Tarlov cysts involving lower thoracic and upper sacral nerve roots (arrows).

(A) Gross photograph of the spine obtained at autopsy. (B, D) Gross photographs of axial sections of the spine at the T11–T12 intervertebral space. (C) Gross photograph of an axial section of the spine at S1–S2. (E) Gross photograph of the T7–T8 intervertebral space. (F) Photomicrograph of T10–T11, hematoxylin and eosin staining, low magnification. (G) Photomicrograph of T10–T11, hematoxylin and eosin staining, high magnification. (H) Photomicrograph of T7–T8, hematoxylin and eosin staining.

Characteristics of Tarlov Cysts. A gross photograph (Panel A) shows the extent of the spine (approximately 60 cm) that was removed at autopsy. Representative gross photographs of axial sections of the spine are shown at the T11–T12 intervertebral space (Panels B and D, arrows) and at S1–S2 (Panel C, arrows). Both show thin - walled cysts containing clear fluid. A gross photograph of the T7–T8 intervertebral space shows that the lining of the cyst that had been drained and injected with fibrin glue (Panel E, arrow) has a more opaque appearance than do the cysts at T10–T11. Photomicrographs at T10–T11 show thin - walled cysts (Panel F, low magnification; hematoxylin and eosin) sitting within the nerve roots (Panel G, high magnification; hematoxylin and eosin) just proximal to the dorsal - root ganglia, with spinal nerve fibers passing through them. A photomicrograph of the cyst at T7–T8 that had been injected with fibrin glue (Panel H, hematoxylin and eosin) shows increased septations in the cyst as compared with the other cysts but no evidence of inflammation.

(A) Photomicrograph of the cyst wall at T10, high-power magnification. (B) Immunostaining for GLUT1. (C) Immunostaining for neurofilament.

A high-power photomicrograph of the cyst wall at T10 (Panel A) shows a thin layer of lining cells with the appearance of perineurial cells (arrows). Arrowheads show nerve twigs in the cyst wall. The cells that line the cyst stain for GLUT1 (Panel B), a marker of perineurial cells, confirming that the cells of the cyst lining are perineurial cells. There is a perispinal soft-tissue infiltrate of leukemic cells that are also GLUT1-positive (Panel B, top). Neurofilament immunostaining (Panel C) highlights the nerve twigs in the cyst wall.

Thoracic radicular pain caused by Tarlov (perineurial) cysts

thorax spinal pain with radicular and visceral pain

Tarlov cyst


A 48-year-old man presented to the accident department with a three-day history of right ear pain, yellow ear discharge, and mild hearing loss. He had seen his general practitioner two days before and had been prescribed oral antibiotics and analgesia, but over the past 24 hours the pain had worsened significantly and he was feeling generally unwell. He had no relevant medical history, was taking no regular drugs, and had no known allergies. On examination, he was afebrile and the tympanic membrane was partly visualized and appeared normal. The external auditory canal was about 80% stenosed with discharge within the canal. He had no signs of meningism, no evidence of mastoiditis, and no cervical lymphadenopathy. Blood tests showed elevated inflammatory markers with a white cell count of 12 × 10⁹/L (reference range 4-11 × 10⁹) and C reactive protein of 100 mg/L (<5 mg/L).

Clinical photograph showing oedema of the pinna (A), oedema of the external auditory canal (B), evidence of ear discharge (C), and cellulitis surrounding the pinna (D)

Right otitis externa with cellulitis of the pinna and surrounding soft tissue

Otitis externa, unspecified

Cellulitis of pinna

Cellulitis or abscess of soft tissues of the mouth


A 66-year-old man presented with a 4 to 5-month history of fever, chills, drenching night sweats, and unintentional 35-kg weight loss. He had previously undergone work-up for fever of unknown origin including evaluation for infectious causes such as tuberculosis, typhoid, and brucellosis, but these were not revealing. On physical examination, his spleen was palpable but no adenopathy was detected. Blood tests revealed anemia with hemoglobin of 9.0 g/dL (normal 13.0-18.0 g/dL), microcytosis with mean corpuscular volume of 75 fl (normal 80.0-94.0 fl), normal platelet count of 354,000/μL, and elevated international normalized ratio of 1.30 (normal 0.85-1.20). His serum ferritin level was significantly elevated at 1,796.0 ng/mL (normal 25-310 ng/mL).

Endoscopic ultrasound of the spleen.

Endoscopic ultrasound view showing a large mass occupying the majority of the spleen (120 × 110 mm)

Smears from the spleen and splenic hilar lymph node. Cytology, high-power view.

High power cytology view showing large atypical lymphoma cells with scant cytoplasm, irregular nuclear contours, small but visible nucleoli, clumped chromatin, and no cellular cohesion. The background was rich in lymphoglandular bodies with tumoral diathesis identified

Smears from the spleen and splenic hilar lymph node. CD20 immunohistochemical staining.

CD20 immunohistochemical stain showing strong membranous positivity in the large lymphoma cells

Stage IV-B diffuse large B-cell non-Hodgkin lymphoma with splenic involvement

Diffuse large B-cell non-Hodgkin lymphoma

Diffuse large B-cell lymphomas

Fibrosis of spleen[Schistosomiasis involving the skin]


A 70-year-old woman presented to the clinic for a routine examination. The patient reported that this mass had been present since birth. Her symptoms were minimal, with occasional difficulty cleaning the area and halitosis from entrapped food, but she was otherwise asymptomatic regarding the lesion.

Clinical photograph of the hard palate.

Clinical photograph shows a large, lobulated, pink-colored mass arising from the hard palate, demonstrating the characteristic appearance of a palatal torus with significant size variation from typical presentations.

Torus palatinus