A 59-year-old woman presented with a longstanding history of epilepsy with complex partial seizures, for which she had been using phenytoin for more than 20 years. She was referred with a 3-year history of progressive muscle weakness, associated with generalized bone and muscle pain, resulting in significant limitations in her daily activities. Her symptoms had further worsened with progressive proximal muscle pain and weakness and increasing bone pain. Physical examination revealed normal renal and liver function. Conventional radiographs demonstrated Looser's zones in the femoral neck bilaterally.

Laboratory findings at initial presentation and at subsequent time points, including phosphate, calcium, alkaline phosphatase, PTH, creatinine, vitamin D (25(OH) and 1,25(OH)2), and C-FGF23 levels.

Laboratory findings show initial phosphate of 0.45 mmol/L, calcium of 2.13 mmol/L, alkaline phosphatase of 366 U/L, PTH of 7.0 pmol/L. At presentation in the center, phosphate was 0.56 mmol/L, calcium 2.08 mmol/L, creatinine 57 μmol/L, alkaline phosphatase 271 U/L, PTH 7.8 pmol/L, vitamin D 25(OH) 73 nmol/L, 1,25(OH)2 vitamin D 58 pmol/L, and C-FGF23 123 RU/L. Follow-up at 3 and 4 years showed progressive worsening with C-FGF23 rising to 1370 and 2050 U/L respectively.

Skeletal scintigraphy performed 4 hours after injection of 99mTc hydroxydiphosphonate.

Skeletal scintigraphy performed 4 h after injection of 99mTc hydroxydiphosphonate showing multiple focal areas of increased osteoblastic activity suggestive for microfractures together with general increased osteoblastic activity throughout the whole skeleton, suggestive for a metabolic bone disease.

111Indium-pentetreotide planar total body scintigraphy, 24 hours after injection.

111Indium-pentetreotide planar total body scintigraphy (24 h after injection) showing pathological somatostatin receptor expression in the left inguinal region.

FDG-PET/CT fusion image, transverse view, left inguinal region (quadriceps femoris), SUVmax=4.2 g/cm³.

Fusion transversal image of the 18fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) showing a soft tissue lesion with moderately increased glucose metabolism (maximum standardized uptake value 4.2 g/cm³) in the left inguinal region, situated in the m. quadriceps femoris.

Transversal short tau inversion recovery (STIR) magnetic resonance imaging of the region inferior to the left hip joint.

Transversal short tau inversion recovery (STIR) magnetic resonance image with an intermuscular located soft tissue mass inferior to the left hip joint. The lesion demonstrates inhomogeneous high signal intensity compared to muscle.

Tumor-induced osteomalacia due to a fibroblast growth factor 23-producing phosphaturic mesenchymal tumor localized in the left quadriceps femoris muscle

osteomalacia NOS

neoplasm NOS


18-year-old pregnant woman. Healthy with no history of smoking, drug abuse, or family history of chromosomal disease or encephalodysplasia. Experienced mild flu-like symptoms during first month of pregnancy that resolved after three days without medication.

Ultrasound of fetal brain at 30 weeks' gestation.

Ultrasound imaging of fetal brain at 30 weeks' gestation showing enlarged lateral ventricles

Fetal hydrocephalus, confirmed by enlarged lateral ventricles (>15 mm diameter) on ultrasound

Maternal care for fetal hydrocephalus


47-year-old female presented to emergency department after being hit while skiing by another skier at high speed from behind. Immediate pain and marked general swelling of the knee joint occurred after impact. Unable to bear weight. Physical exam showed neurovascularly intact limb with no broken skin. No relevant medical, family, or social history.

AP radiograph of the proximal tibia.

AP radiograph shows fracture line extending from medial proximal tibia border and vertical fracture line extending into the joint

Lateral radiograph of the knee.

Lateral radiograph shows edge-like segment of bone displaced posteriorly with substantial notching of the tibial plateau. Shows involvement of tibial spinous process suggesting possible soft tissue injury at cruciate ligament attachments

Tibial plateau fracture - classified as AO/OTA 41B3 (partial articular split depression) or Schatzker type 5 (bicondylar tibial plateau fracture with metaphysis in continuity with diaphysis)

Fracture of lower end of tibia[Tibial Plateau]

Injury, poisoning or certain other consequences of external causes

Partial articular split depression fracture

depression NOS

Mental, behavioural or neurodevelopmental disorders

fracture of tibia

Orthopedic and connective tissue disorders


A 69-year-old woman was referred to the eye emergency department with a dilated left pupil and ptosis of her right upper lid. She reported having odd pupils and a droopy right lid since being a teenager. She had no ocular or medical history and was not taking any medications. She denied any history of trauma, neck pain, weight loss, diplopia, or anhydrosis. On examination, both pupils constricted to light and accommodation with no relative afferent pupillary defect. Iris color was equal bilaterally. Visual acuity was 6/9 in both eyes and intraocular pressures were 12 mm Hg (right) and 14 mm Hg (left). Ocular motility was full and funduscopy showed healthy optic discs. No other neurological signs were present.

(A) Clinical photograph of the right upper eyelid in room light and distance fixation. (B) Clinical photograph of the right pupil in room light and distance fixation.

Photograph showing right upper lid ptosis (A) and right miosis (B) in room light and distance fixation

Right idiopathic Horner's syndrome (longstanding, present since age 19)

Horner syndrome


An 18-year-old Southeast Asian woman presented to the emergency department 11 weeks after giving birth to her first child with acute liver failure. She had been well until one week prior, when she developed rhinorrhea, sore throat, and cough. Four days before presentation, bronchitis was diagnosed and she was prescribed azithromycin and promethazine-dextromethorphan syrup. Over the subsequent three days, she developed abdominal discomfort, nausea, vomiting, diarrhea, vaginal bleeding, and progressive yellowing of her skin and eyes. On the morning of presentation, she experienced light-headedness and syncope with a fall resulting in a chin laceration. Physical examination revealed marked jaundice, fatigue, tachycardia (pulse 120 beats per minute), hypotension (82/56 mmHg), tachypnea (22 breaths per minute), nystagmus on right lateral gaze, abdominal distention with right lower quadrant tenderness, and trace leg edema. She had a history of mild asthma and had given birth at 32 weeks gestation after pregnancy complications including preterm labor and placental abruption. She had remained in the hospital for one week after delivery due to unspecified abnormal laboratory results. A grandmother had unspecified liver disease. She did not smoke, use illicit drugs, or drink alcohol.

Laboratory results.

Laboratory results showed severe anemia with hematocrit 19.6% and hemoglobin 6.4 g/dl at the other hospital, improving slightly to 23.4% and 7.9 g/dl at MGH. Mean corpuscular volume was elevated at 113.8-105.9 fl. White cell count was normal but with left shift including myelocytes and metamyelocytes. Platelet count was normal. Coagulation was severely abnormal with prothrombin time 24.5 seconds and INR 2.6-2.1. Total bilirubin was markedly elevated at 19.7-26.3 mg/dl with direct bilirubin 21.9 mg/dl. Aspartate aminotransferase was elevated at 152 U/liter while alanine aminotransferase was normal at 20-24 U/liter. Alkaline phosphatase was low at 22-14 U/liter. Gamma-glutamyltransferase was elevated at 116 U/liter. Albumin was low at 2.1-2.2 g/dl. Lactate dehydrogenase was elevated at 344 U/liter. Ammonia was at the upper limit of normal at 49 μmol/liter.

(A) Grayscale abdominal ultrasound of the liver. (B) Grayscale abdominal ultrasound of the gallbladder. (C) Color Doppler ultrasound of the common bile duct. (D) Pulsed-wave Doppler ultrasound of the hepatic artery. (E) Pulsed-wave Doppler ultrasound of the portal veins. (F) Pulsed-wave Doppler ultrasound of the hepatic veins.

Abdominal Ultrasound Images. Grayscale ultrasound images show mildly echogenic parenchyma of the liver (Panel A) and distention of the gallbladder, with layering sludge, wall edema, and a small amount of pericholecystic fluid (Panel B). A color Doppler ultrasound image shows that the common bile duct is normal in diameter (Panel C). Pulsed-wave Doppler ultrasound images show normal flow of the hepatic artery (Panel D), portal veins (Panel E), and hepatic veins (Panel F).

Fulminant hepatic failure due to Wilson's disease

fulminant hepatic failure

Wilson disease

Endocrine, nutritional or metabolic diseases


17-year-old male with high myopia and craniofacial/skeletal abnormalities. Born full term via vaginal delivery, birth weight 4.3kg. Height was at 80th percentile until age 15, then plateaued at 55th percentile. At age 13, developed grade 3/6 systolic heart murmur. Had dental crowding and class III dentofacial growth pattern at age 12. Physical exam showed retroclined lower teeth. Had pectus excavatum present at birth. Current measurements: weight 66.3kg (48th percentile), height 177.5cm (58th percentile), head circumference 58.5cm (98th percentile). Loss of normal upper spine curvature and scoliosis noted.

(A) Clinical photograph, frontal view. (B) Lateral cephalogram, head. (C) Clinical photograph, right eye, anterior segment. (D) Clinical photograph, right eye, dilated pupil. (E,F) Clinical photographs, chest wall.

Clinical images showing: (A) Mild frontal bossing, downward-slanted lateral canthi, low-set and protruding ears, severe midface hypoplasia and maxillary retrognathia. (B) Lateral cephalogram showing frontal bossing, severe midface retrognathia, negative overjet >10mm, and impacted 12-year molars. (C) Right eye showing shallow anterior chamber. (D) Dilated right pupil showing entire lens perimeter visible, suggesting microspherophakia. (E,F) Mixed chest wall defect with pectus excavatum and lower sternal protrusion.

(A) Lateral lumbar spine x-ray. (B) DEXA scan, bone mineral density=0.75 g/cm², z-score=–2.7.

Imaging studies showing: (A) Lateral lumbar spine x-ray revealing concave superior and inferior end-plate depressions at multiple lumbar levels ('codfish' vertebrae). (B) DEXA scan showing bone mineral density of 0.75 g/cm2, corresponding to z-score of -2.7, indicating osteoporosis.

Laboratory results.

Laboratory results showing markedly elevated blood homocysteine (237.0 μmol/L), elevated methionine (240 nmol/ml), normal methylmalonic acid and methylcitrate levels, normal vitamin B12 (410 pg/ml), normal folate (10.4 ng/ml), and normal complete blood count

Homocystinuria caused by cystathionine β-synthase deficiency

Homocystinaemia

cystathionine synthase deficiency


A 41-year-old man with morbid obesity (weight 159 kg, BMI 49.1) since childhood presented for bariatric surgery consideration. He had a history of hyperlipidemia and prior cholecystectomy, taking rosuvastatin and ezetimibe with no known drug allergies. He was a current smoker with a 30-year history of 1-3 packs per day, had remote excessive alcohol use but was abstinent for 15 years, and denied illicit drug use. He worked in information technology, lived with his wife and three children, and had no known family history of gastrointestinal disorders. Eight years after undergoing Roux-en-Y gastric bypass, he presented with epigastric and left upper quadrant abdominal pain (5/10 severity) exacerbated by eating, without melena or hematochezia. Physical examination showed abdominal tenderness without rebound or guarding. Basic metabolic panel, blood count, and liver function tests were unremarkable. He later developed foul-smelling, watery diarrhea 6-7 times daily with visible food particles, pale floating stools that were difficult to flush, increased flatus, and daily feculent eructation. After 4 months, he presented to the emergency department with progressive weakness, myalgias, muscle cramps, and weight loss from 95.3 kg to 72.6 kg. He appeared chronically ill and cachectic with dry mucous membranes, feculent breath, and diminished skin turgor.

Endoscopic examination of the gastrojejunal anastomosis.

Endoscopic view showed marginal ulceration at the jejunal aspect of the gastrojejunal anastomosis with suture material present

Upper gastrointestinal series.

Upper gastrointestinal series revealed contrast material traveling from the esophagus through the gastric pouch and fistulous tract directly to the transverse colon and descending colon, with no contrast material visible in the small bowel or proximal large bowel

Gastrocolic fistula complicating marginal ulceration after Roux-en-Y gastric bypass

gastrocolic ulcer

marginal ulcer


13 year old boy presented to orthopaedic clinic with painful, swollen right wrist after falling forward. No limb deformities were found on examination.

(A) Anteroposterior radiograph of the right wrist. (B) Lateral radiograph of the right wrist.

Anteroposterior and lateral radiographs of the right wrist showed typical torus fracture changes on the right ulna and radius

wrist fracture NOS


A 14-month-old girl presented with a 3-month history of recurrent episodic vomiting that began when she was 11 months old. She had four distinct episodes, each lasting 3-5 days and associated with lethargy, decreased oral intake, and intermittent diarrhea. The patient was born at full-term without complications. During the previous 3 months, she showed developmental regression, stopping attempts to walk and only crawling unsteadily with occasional falls. Parents reported occasional morning 'shakes' consisting of symmetric movements lasting seconds over 10 minutes without loss of consciousness. On physical examination, she was alert and interactive but had frontal bossing, a full fontanelle with visible pulsations when supine, and head circumference 51.5 cm. Neurologic examination revealed decreased muscle tone in legs with brisk 3+ patellar reflexes and flexor plantar reflexes. Eye movements were normal with equally reactive pupils and no nystagmus or movement limitations. Family history included paternal gallstones and pancreatitis, diabetes in both grandfathers, and various other conditions but no celiac disease.

Laboratory results from multiple episodes. Urinalysis. Venous blood gas analysis.

Laboratory results showed normal sodium (138-144 mmol/L), potassium (4.4-5.1 mmol/L), and glucose (69-100 mg/dL) across episodes. Notable findings included low carbon dioxide (16 mmol/L) and elevated anion gap (26) during the second episode. On the day of admission, elevated lactate (5.0 mmol/L), low total carnitine (27 nmol/ml, normal 35-84), low free carnitine (18 nmol/ml, normal 24-63), and elevated calcium (11.4 mg/dL) were present. Later measurements showed elevated pyruvate (2.9 mg/dL, normal 0.7-1.4) and β-hydroxybutyrate (0.8 mmol/L, normal <0.4). Venous blood gases showed pH 7.43, PCO2 33 mmHg, and oxygen saturation 76.6%. Urinalysis revealed 1+ ketones and 5 white cells per hpf. Blood levels of amylase, lipase, ammonia, liver enzymes, bilirubin, pyruvate kinase, and amino acids were normal.

(A) Growth chart for length and weight in relation to age, including measurements at 14 months. (B) Growth chart for head circumference in relation to age and weight in relation to length, including measurements at birth, 9 months, and 14 months.

Growth Charts. Panel A shows the patient’s charts for length and weight in relation to age. Since birth, the weight has remained near the 50th percentile for her age and the length has ranged between the 50th percentile and greater than the 95th percentile, with the most recent measurement, obtained when she was 14 months of age, falling in the 75th percentile. Panel B shows the patient’s chart for head circumference in relation to age and for weight in relation to length. The head circumference was in the 50th percentile at birth but was in the 95th percentile when she was 9 months of age, with continued increase in percentile between 9 and 14 months of age.

(A) MRI of the head, obtained on presentation, sagittal view, T1-weighted sequence, without gadolinium. (B) MRI of the head, obtained on presentation, sagittal view, high-resolution T2-weighted sequence. (C) MRI of the head, obtained on presentation, sagittal view, T1-weighted sequence, after gadolinium administration. (D, E) MRI of the head, obtained on presentation, axial view, T2-weighted sequence. (F) MRI of the head, obtained on presentation, susceptibility-weighted sequence.

MRI of the Head Obtained on Presentation. A sagittal T₁-weighted image (Panel A), obtained without the administration of gadolinium, shows macrocephaly with marked enlargement of the lateral and third ventricles and downward bowing of the floor of the third ventricle into the sella turcica; the fourth ventricle is normal in size. A high-resolution sagittal T₂-weighted image (Panel B) shows stenosis of the cerebral aqueduct (arrow). A sagittal T₁-weighted image (Panel C), obtained after the administration of gadolinium, shows no abnormal enhancement; there is no evidence of an obstructing mass or ventriculitis. Axial T₂-weighted images (Panels D and E) show transependymal flow of the cerebrospinal fluid along the margins of the lateral ventricles (Panel E, arrow) and an interrupted intraventricular septum, a finding that can be seen with long-standing hydrocephalus. A susceptibility-weighted image (Panel F) shows no evidence of intracranial hemorrhage.

Stenosis of the aqueduct of Sylvius

Hydrocephalus


A 52-year-old woman presented with a two-day history of lower back pain radiating into her left leg with associated leg weakness. She had a history of chronic back pain. Neurological examination revealed reduced power in her left leg (3/5), but was otherwise normal.

Mid-sagittal lumbosacral spine MRI, T2-weighted sequence.

Mid-sagittal T2 weighted lumbosacral spine MRI scan showed disc prolapse at L4/L5

Intervertebral disc degeneration without prolapsed disc with determinant

Diseases of the musculoskeletal system or connective tissue


A 73-year-old man presented with confusion and irritability. Two days prior, he developed increasing weakness, lethargy, chills, and diarrhea, becoming less responsive and increasingly confused. His oral intake decreased to 500ml of liquid daily. He became almost catatonic, unable to arise from bed, with recurrent epistaxis and chest/left arm pain. His medical history included diabetes mellitus, atrial fibrillation, diastolic heart failure, pulmonary hypertension, and a history of exudative pericardial effusion that spontaneously resolved. He had recurrent epistaxis since childhood. Additional history included hyperlipidemia, pancytopenia, obstructive sleep apnea, GERD, and headaches. Family history included mother and daughter with recurrent epistaxis. On examination, he was somnolent but easily roused, oriented but with waxing/waning attention. Physical findings included dry mucous membranes, dried blood around nares, multiple telangiectasias on face/lips/torso, nonblanching cherry angiomas on chest, irregularly irregular heart sounds, and liver edge palpable 2cm below right costal margin. His legs showed chronic venous insufficiency changes.

Laboratory results.

Laboratory results showed hematocrit 31.7%, hemoglobin 10.6 g/dL, WBC 6600/mm3, platelets 274,000/mm3, PT/INR 34.4sec/3.4, potassium 3.0 mmol/L, BUN 41 mg/dL, creatinine 1.74 mg/dL, ammonia 55 μmol/L. Other chemistry values were normal.

(A) Ultrasound of the right lower lobe of the liver. (B) Doppler ultrasound of the portal vein. (C) Doppler ultrasound of the hepatic vein.

Ultrasound Images of the Right Upper Quadrant. An image of the right lower lobe of the liver (Panel A) shows a communication between the right portal vein (arrow) and the right hepatic vein (arrowhead). Doppler ultrasound images show the portal vein (Panel B, arrow) and the hepatic vein (Panel C, arrow).

CT of the abdomen.

CT of abdomen showed pneumatosis of ascending colon to hepatic flexure, without portal venous gas. Also noted cholelithiasis, atherosclerotic disease of aorta and mesenteric vessels, and cardiomegaly.

Hereditary haemorrhagic telangiectasia


Male newborn delivered at term via spontaneous vaginal delivery to healthy mother. Pregnancy was uncomplicated. Patient was active, afebrile, and feeding well. Physical exam showed widely disseminated blueberry muffin rash present at birth, characterized by many scattered, non-tender papules (2-6 mm diameter) affecting the face, scalp, trunk, back, diaper region, arms, legs, palms and soles.

(A) Clinical photograph of the head and neck acquired at birth during the initial physical examination. (B) Clinical photograph of the body acquired at birth during the initial physical examination.

Figure 1 consists of clinical photographs showing multiple firm, non-blanching, purple papules in a neonate with Langerhans cell histiocytosis, with subfigure A depicting the head and neck and subfigure B depicting the body; these images demonstrate the disseminated "blueberry muffin" rash affecting the face, scalp, trunk, back, diaper region, arms, and legs, including the palms and soles, acquired at birth during the initial physical examination.

Langerhans cell histiocytosis presenting as blueberry muffin rash

Langerhans cell histiocytosis

Rash


42-year-old man with hyperlipidemia and family history of coronary artery disease presented with 4-month history of intermittent exertional chest pain

Myocardial perfusion imaging during exercise.

Myocardial perfusion imaging during exercise showed moderate ischemia in the distribution of the left circumflex coronary artery

Coronary computed tomographic angiography.

Coronary computed tomographic angiography (CTA) revealed large amount of atherosclerotic plaque in the proximal left circumflex coronary artery with severe stenosis

Coronary artery disease with severe stenosis of left circumflex coronary artery

Diseases of coronary artery, unspecified

Congenital coronary arterial orifice stenosis

Cardiovascular and respiratory disorders


53-year-old male with long-standing malaise and fatigue. Had a slow-growing mesenteric mass (5cm in diameter) present for 16 years based on previous imaging. Pre-treatment blood abnormalities showed elevated IgG4 levels (2500 mg/dL), elevated C-reactive protein (8.4 mg/dL), and elevated erythrocyte sedimentation rate (119 mm/hr). Prior to treatment initiation, patient had elevated serum amyloid level of 350 mg/L.

(A) Mesenteric mass biopsy, immunohistochemical staining for IgG. (B) Mesenteric mass biopsy, immunohistochemical staining for IgG4, mean IgG4-positive plasma cells per high-power field=421, IgG4/IgG plasma cell ratio=0.53.

Shown are biopsy samples obtained from a 53‑year‑old man with renal AA amyloidosis that was apparently associated with IgG4‑related disease. A sample that was obtained from a mesenteric mass underwent immunohistochemical staining for IgG (Panel A) and IgG4 (Panel B), with the latter showing diffuse, scattered IgG4‑positive plasma cells. The average number of plasma cells that were positive for IgG4 (a mean of 421 cells per high‑power field out of three analyses, with a ratio of IgG4‑positive plasma cells to IgG‑positive plasma cells of 0.53) fit the diagnosis of IgG4‑related disease.

(C) Kidney cortex, silver staining. (D) Kidney cortex, Congo red staining, polarized light.

The renal cortex shows expanded mesangial areas with a loss of argyrophilia and thickened capillary walls (Panel C, silver staining), and apple‑green birefringence is visible in the mesangium and along capillaries under polarized light (Panel D, Congo red staining).

IgG4-related disease with mesenteric involvement and secondary renal AA amyloidosis

IgG4 related disease

Malignant neoplasm involving overlapping sites of retroperitoneum, peritoneum or omentum[Mesentery]

Secondary amyloidosis


A 39-year-old Korean male presented with intermittent and atypical chest discomfort symptoms. His medical history included burning pain originating in the extremities and radiating inwards to the limbs since childhood, which was previously dismissed as 'growing pains'. He also experienced ringing in the ears, had angiokeratomas on his trunk, and cornea verticillata. Physical examination revealed proteinuria (P/C ratio 0.501) without hematuria and normal renal function. His plasma αGal-A activity was markedly lower than controls at 4.1 nmoL/hr/mg protein (normal cutoff >35 nmoL/hr/mg protein). Genetic testing identified a hemizygous mutation in exon 4 of GLA, c.617T>C (p.Leu206 Pro).

Electrocardiogram.

Electrocardiogram showed T wave inversion in I,II, aVL, aVF, V4-6, left ventricular hypertrophy with voltage criteria, and sinus bradycardia

Echocardiography, left ventricle, interventricular septum thickness 18.1 mm, posterior wall thickness 13.0 mm, LV mass index 203.9 g/m², relative wall thickness 0.61.

Echocardiograph demonstrated normal left ventricular systolic function with increased interventricular septum thickness (18.1 mm) and LV posterior wall thickness (13.0 mm), LV mass index 203.9 g/m2, relative wall thickness 0.61

(A) Electron microscopy of the glomeruli. (B) Electron microscopy of the tubular epithelium.

The patient showed the renal pathology. (A) Glomeruli examined by electron microscopy show characteristic round, whorled, laminated electrondense structures filling the podocyte cytoplasm and a few endothelial cells. (B) The characteristic lipid inclusions with whorled architecture pack the tubular epithelial cytoplasm upon electron microscopy.

Classic form Fabry disease with a novel GLA mutation (p.Leu206 Pro)

Fabry disease


A 6-month-old boy presented to the emergency department with gastrointestinal bleeding and abdominal pain. Two days prior, he began having intermittent episodes of abdominal pain that woke him from sleep, during which he would cry and pull his legs toward his chest. His abdomen felt rigid during these episodes. He had a history of infantile colic and gastroesophageal reflux previously treated with ranitidine. He was on low-lactose cow milk-based formula and had recently started pureed foods. The patient had three bowel movements with increasing amounts of reddish discoloration, culminating in a bowel movement that appeared to be almost entirely blood with a large clot. Initial vital signs showed temperature 36.5°C, pulse 178/min, blood pressure 95/52 mmHg, respiratory rate 24/min, and oxygen saturation 100%. Physical examination revealed diffuse abdominal tenderness, greater on the right side, with no masses or external anal fissures. Later examination showed pallor, with pulse 168/min and blood pressure 94/36 mmHg.

Laboratory results.

Laboratory data showed markedly decreased hematocrit (17.5%) and hemoglobin (5.7 g/dL), elevated white blood cell count (22,200/mm³), elevated reticulocyte count (7.6%), and low iron (19 μg/dL). Other tests including coagulation studies, liver function, and protein levels were largely normal.

(A) Technetium-99m pertechnetate scan of the abdomen, anterior planar images, 1-hour continuous acquisition. (B) Technetium-99m pertechnetate scan of the abdomen, lateral planar images.

Technetium-99m Pertechnetate Scan of the Abdomen. A technetium-99m pertechnetate scan of the abdomen was performed to assess for Meckel’s diverticulum. Anterior planar images (Panel A), which were obtained continuously for 1 hour, show an abnormal focus of radiotracer accumulation in the right paramedian region of the abdomen that gradually increases in intensity over time (black arrow). Physiological radiotracer accumulation is present in the stomach (white arrow), bowel (arrowhead), and bladder (asterisk). Lateral planar images (Panel B) confirm that the abnormal focus of radiotracer accumulation (arrow) is in a location that is compatible with bowel activity and is not consistent with urinary activity, which would be more posterior.

Meckel's diverticulum with heterotopic gastric mucosa and associated peptic ulceration in the intestinal mucosa

Meckel diverticulum

Heterotopic gastric mucosa

peptic ulcer NOS


24-year-old man presents with severely itchy rash that spread over two months. Had previously used an over-the-counter cream containing clobetasol, ofloxacin, terbinafine, and ornidazole which helped initially.

Clinical photograph of the groin, thighs, and penis.

Shows extensive tinea cruris and tinea corporis with erythematous, eczematous, and scaly lesions in groin, both thighs, and penis

Clinical photograph of the thighs.

Figure 2 is a clinical photograph depicting widespread tinea corporis involving the thighs, showing multiple large annular lesions with steroid-induced hypopigmentation on the thigh, visible steroid-induced striae on the right medial thigh, and multiple eczematous circles within some of the lesions.

Clinical photograph of the skin.

Figure 3 is a clinical photograph depicting classic double edges of steroid-modified tinea on the skin, showing eczematous circular lesions with ill-defined borders within the main lesion, demonstrating the modified dermatological appearance associated with topical steroid use.

Steroid modified tinea (tinea incognito)

tinea incognito


A 54-year-old male smoker with a 20 pack-year smoking history presented with a six-week history of fever, anorexia, worsening cough, and dyspnoea. He had a past medical history significant for previous coronary artery bypass grafting.

Chest radiograph.

Chest radiograph showed previous sternotomy, borderline cardiomegaly, pulmonary oedema, right lower zone consolidation, and a right mid zone oval density.

Chest radiograph.

Chest radiograph showing an encysted pleural effusion (lenticular shaped opacity) along the right oblique fissure (asterisk), a right sided lamellar pleural effusion (arrow), and left subpulmonic effusion (line)

(A) Thoracic contrast-enhanced computed tomography, coronal view. (B) Thoracic contrast-enhanced computed tomography, sagittal view. (C) Thoracic contrast-enhanced computed tomography, axial view.

Coronal (A), sagittal (B), and axial (C) contrast enhanced thoracic computed tomography showing a well defined, oval fluid density with tapering ends related to the right oblique fissure, characteristic of an encysted pleural effusion (arrows). Bilateral pleural effusions are also seen, worst on the left side (triangles)

Encysted pleural fluid in the right oblique fissure, with congestive heart failure and coexisting right lobar pneumonia caused by Mycoplasma pneumoniae

Pleural effusion

Congestive heart failure

lobar pneumonia NOS[Right]


A 68-year-old woman presented with intermittent retrosternal heartburn that had been ongoing for several years. Physical examination revealed no abnormalities. The electrocardiogram (ECG) also showed no abnormalities.

Chest X-ray performed on hospital admission, frontal view, thoracic region.

The figure referred to as "Figure 1" is a plain chest radiograph acquired at the time of hospital admission for a 68-year-old woman with intermittent retrosternal heartburn. The image is a frontal chest X-ray showing the thoracic region, and it demonstrates a retrocardiac opacity consistent with a diagnosis of hiatal hernia.

CT scan, axial view, stomach and chest.

Axial CT scan shows protrusion of the stomach into the chest

hiatus hernia


A 16-year-old girl presented with sudden onset severe central abdominal and left shoulder pain. She had a one-year history of intermittent generalized abdominal pain associated with early satiety and nausea after eating. On examination, she was tachycardic at 120 beats/min and had a firm, tender mass in the epigastrium. Laboratory tests showed normocytic anemia (hemoglobin 84 g/L, normal range 12-16) and elevated neutrophil count of 15×10^9/L (normal range 1.8-8). Upon direct questioning, the patient admitted to a history of chewing her hair, though she claimed to have stopped this behavior nearly a year before presentation.

(A) Chest radiograph, erect position. (B) CT of the abdomen and pelvis, coronal view, with oral contrast.

(A) Erect chest radiograph. (B) Computed tomography image (coronal view) of abdomen and pelvis with oral contrast

Perforation of the stomach secondary to a giant trichobezoar

Perforation of stomach

Symptoms, signs or clinical findings, not elsewhere classified

Trichobezoar


A 60-year-old woman with type 1 diabetes mellitus presented for preoperative evaluation before cataract surgery, reporting only mild fatigue. Her medical history included diabetic retinopathy, hypertension, hyperlipidemia, gastroesophageal reflux, and a nontraumatic stress fracture in her right foot. Medications included insulin (via pump), olmesartan, ezetimibe plus simvastatin, omeprazole, aspirin, and self-prescribed iron sulfate for leg cramps. On examination, she was afebrile with BP 122/64 mmHg, heart rate 84/min, respiratory rate 20/min, and oxygen saturation 97% on room air. She had cataracts in both eyes but otherwise normal physical examination. Laboratory testing showed hemoglobin 10.4 g/dL (down from 12.0 g/dL 6 months prior), WBC 4200/mm3, platelets 286,000/mm3, normal electrolytes, glucose 129 mg/dL, creatinine 1.9 mg/dL (up from 1.0 mg/dL 3 years prior), calcium 11.9 mg/dL (up from 8.9 mg/dL 3 years prior), albumin 4.6 g/dL, total protein 7.4 g/dL, normal liver function tests, and HbA1c 7.1%. The patient later reported weight loss of 16 kg over 9 months, fatigue, and occasional nondrenching sweats. Additional testing showed PTH 11 pg/mL (low), undetectable PTH-related protein, 25-hydroxyvitamin D 27 ng/mL (low), and normal serum/urine protein electrophoresis.

(A) Skull radiograph. (B) Femur radiograph.

Panel A shows a skull radiograph, and Panel B a femur radiograph. Lytic bony lesions are indicated by radio-graphic lucencies (arrows) in the parietal skull and femoral shaft.

PET-CT of the calvarium, spine, pelvis, ribs, and proximal right femur, SUV range 3.9–7.5; PET-CT of the chest.

PET-CT revealed innumerable, predominantly lytic, widespread bone lesions in calvarium, spine, pelvis, ribs, and proximal right femur with high metabolic activity (SUV 3.9-7.5). Also showed small pulmonary nodules and bilateral hilar lymphadenopathy.

Biopsy specimen of the left ilium, H&E staining, low-power magnification.

Figure 3 on page 4 presents a histopathological section of a biopsy specimen from a lytic lesion of the left ilium, prepared with hematoxylin and eosin staining and shown under low-power magnification, demonstrating well-formed, noncaseating epithelioid granulomas within the bone.

osseous sarcoidosis


95-year-old woman admitted after a fall. Medical history includes Alzheimer's disease, hypertension, and type 2 diabetes mellitus (on metformin). Laboratory findings showed elevated white cell count and C reactive protein levels. Urine culture revealed Klebsiella pneumoniae infection. Blood cultures were negative.

Pelvis radiograph.

Pelvis radiograph showing ring of radiolucent gas with central mottled lucencies in the expected location of the bladder, and a right femoral neck fracture

Right femoral neck fracture with incidental finding of emphysematous cystitis

Fracture of neck of femur[Right]

Emphysematous cystitis


2-year-old girl; normal height and weight for age; presented with massive swelling of left femur that grew rapidly over 3 weeks prior to presentation. Medical history included one previous forearm fracture 5 months ago and mild trauma to left femur 4 weeks ago suspicious of a fissure. In pain at presentation. No other skeletal abnormalities noted.

Radiograph at first presentation.

Radiograph at first presentation showing large dense mass and hyperdense line typical of osteogenesis imperfecta type 5 at distal metaphysis

Osteogenesis imperfecta type 5


15-year-old boy presented after injuring his left knee while carrying a tray of food at a fast food restaurant. He felt his knee 'wobble' and fell to the floor, unable to bear weight due to pain. Medical history included chronic fatigue syndrome. Had a Beighton score of 6 (indicating joint laxity) but no history of joint dislocations. On examination: laterally dislocated patella, moderate effusion, pain on palpation around medial patellofemoral ligament, range of movement reduced to extension-flexion of 0/10/60 degrees, ligamentous tests unremarkable. Two weeks later: complained of intermittent locking in left knee, had joint effusion and palpable loose body under patella.

Anteroposterior and lateral radiographs of the knee obtained after patella reduction.

Initial anteroposterior and lateral radiographs after patella reduction showed lipohaemarthrosis and an osteochondral fragment

Patellar dislocation with osteochondral fracture

patellar dislocation

Osteochondral fracture of patella


A 66-year-old woman presented to the emergency department with episodes of palpitations, dizziness, and near fainting that had lasted for a few hours. Her medical history included removal of a left atrial myxoma 15 years ago, after which she experienced recurrent atrial tachycardia managed with modified release verapamil 240 mg once daily. She had recently started sotalol 120 mg twice daily in addition to verapamil and underwent direct current cardioversion for persistent atrial tachycardia one week prior to presentation. Initial workup showed normal urea and electrolytes including magnesium. An echocardiogram revealed normal left ventricular systolic function with no recurrence of left atrial myxoma.

Electrocardiogram on presentation.

Electrocardiogram on presentation showed features consistent with torsade de pointes (polymorphic ventricular tachycardia with gradual change in QRS amplitude and twisting of QRS around the isoelectric line because of a prolonged QT interval)

Drug-induced torsade de pointes due to sotalol-induced QT prolongation

Torsade de pointes

Drug-induced eruptions


A 71-year-old man presented with a 4-week history of diffuse rash and 1-week history of bilateral elbow and knee pain. He had a past medical history of recurrent diverticulitis complicated by colovesical fistula, and had undergone sigmoid colon resection with fistula repair six weeks prior to presentation. His other medical conditions included glaucoma, gastroesophageal reflux disease, and osteoarthritis. He reported no fever, abdominal pain, dysuria, or urinary frequency. On physical examination, he was afebrile and normotensive with a pulse of 88/min. The abdomen was nontender with a healed postoperative scar, and cardiopulmonary and musculoskeletal examinations were unremarkable. Laboratory tests revealed normal blood cell counts and normal renal and hepatic panels. Urinalysis showed microscopic hematuria (6-10 red blood cells) and 1+ proteinuria, with a spot urine protein-to-creatinine ratio of 1.17 mg/mg creatinine.

(A) Clinical photograph of cutaneous findings on the lower abdomen. (B) Punch biopsy of lower abdomen rash, H&E staining, 200× magnification.

Left image shows cutaneous findings with erythematous rash characterized by palpable purpura and petechiae. Right image shows punch biopsy of rash on lower abdomen (hematoxylin-eosin, ×200) demonstrating leukocytoclastic vasculitis.

Direct immunofluorescence of punch biopsy.

Direct immunofluorescence of punch biopsy showing intravascular IgA deposits within papillary dermal blood vessels (indicated by arrowheads).

IgA vasculitis (adult-onset Henoch-Schönlein purpura [HSP])

IgA vasculitis

Henoch-Schönlein purpura


An 82-year-old man presented to the emergency department with a 6-month history of worsening back and left hip pain. The pain did not radiate down his legs but occasionally woke him from sleep, was worse after activity, and did not improve with bending forward. He reported no morning stiffness, fever, chills, or night sweats. He had lost 9 kg (20 lb) over the preceding few months and had no bowel or bladder incontinence. His pain began after respiratory symptoms resolved from pneumonia treated with levofloxacin. His medical history included sick sinus syndrome with pacemaker placement, diastolic heart failure, pulmonary fibrosis, hyperlipidemia, hypertension, gout, herpes zoster with postherpetic neuralgia, and basal-cell carcinoma. He was retired university professor, former cigar smoker (quit 28 years prior), and traveled extensively internationally including to Thailand, Malaysia, Venezuela, Belize, Nicaragua, Australia, New Zealand, and throughout the United States, residing in Boston during summers and Arizona during winters. On examination, he appeared in no acute distress with temperature 37.1°C, blood pressure 110/60 mm Hg, pulse 60 beats per minute, respiratory rate 16 breaths per minute, and oxygen saturation 98% on ambient air. He had no point tenderness over his spine or sacroiliac joints, normal bilateral hip examination, no neurologic deficits, slightly diminished patellar reflexes bilaterally, intact sensation, normal rectal tone, and negative straight-leg raising test.

(A) CT of the lumbar spine with contrast enhancement. (B) CT of the lumbar spine with contrast enhancement.

CT scans of the lumbar spine with contrast enhancement show end-plate irregularity and destruction of the L4 and L5 vertebrae (Panel A, arrow), with a surrounding left paravertebral and ventral epidural soft-tissue collection (Panel B, arrow.)

CT scan of the chest.

CT scan of the chest shows multiple calcified mediastinal and hilar lymph nodes.

(A) Core-needle biopsy specimen of the vertebral disk, Gomori methenamine silver staining. (B) Core-needle biopsy specimen of the vertebral disk, periodic acid-Schiff staining.

A specimen that was obtained from a core-needle biopsy of the vertebral disk and was stained with Gomori methenamine silver (Panel A) shows a spherule (arrow) without visible budding. The same specimen, stained with periodic acid-Schiff (Panel B), also shows a spherule (arrow).

Coccidioidal vertebral osteomyelitis (disseminated coccidioidomycosis)

osteomyelitis of vertebra

Disseminated coccidioidomycosis

Certain infectious or parasitic diseases


A 20-year-old woman with a history of asthma presented to the emergency department with shortness of breath and sharp pains in her chest and neck. The pain worsened on deep inspiration. She had a cough producing small amounts of whitish sputum. She had experienced several previous asthma exacerbations and had not been using her inhalers regularly. On examination, her airway was patent with a generalized moderate wheeze in her chest, but no other obvious clinical signs. She could speak in full sentences and had normal oxygen saturations and temperature. She was mildly tachycardic and appeared slightly anxious. Blood tests showed a mild neutrophilia and elevated C reactive protein.

Chest radiograph.

Chest radiograph showed air surrounding the mediastinal vessels, most obvious at the left mediastinal edge between the aortic knuckle and atria. The 'continuous diaphragm sign' was visible, showing a continuous border of the diaphragm where it would usually be obscured by the left heart border.

pneumomediastinum


A 14-year-old boy presented to the emergency department with acute fear of choking while swallowing that began 2 days before admission after choking on chicken during dinner. He became fearful of swallowing, vomited after trying to eat ice cream, and reduced his daily fluid intake to only 710 ml of water. Nine days earlier, his mother reported episodes of inspiratory stridor during sleep over the past few weeks. On the day of presentation, he consumed only small sips of water and slept most of the day. His birth history included delivery at full term with nuchal cord, birth weight 3.6 kg, and Apgar scores of 2, 6, and 9 at 1, 5, and 10 minutes respectively, requiring initial resuscitation. He had a history of infantile gastroesophageal reflux, milk-protein allergy, and received sensory-integration training during childhood. Immunizations were incomplete after age 2.5 years due to parental refusal. He had keratosis pilaris and eczema, took no medications, and had no known allergies. Family history included a younger brother with autism spectrum disorder, PANDAS, and vitamin D deficiency. Physical examination revealed an alert, anxious-appearing boy with persistent involuntary burping and evidence of drooling. Vital signs showed temperature 36.1°C, blood pressure 127/64 mmHg, pulse 67 bpm, respiratory rate 18 bpm, weight 54.1 kg (60th percentile), and height 160 cm (32nd percentile). He had dry oral mucosa, was Tanner stage 4, and had normal cranial nerve examination (II-XII), clear speech, normal gait, strength, sensation, and deep-tendon reflexes. On subsequent examination, he had hypertonic leg muscles and a mildly positive Chvostek's sign on the left side.

Laboratory results. Urine studies.

Laboratory results showed severe hypocalcemia (calcium 5.4 mg/dl, reference range 8.5-10.5), profound hyperphosphatemia (phosphorus 10.6 mg/dl, reference range 3.0-4.5), normal electrolytes (sodium 136 mmol/liter, potassium 4.0 mmol/liter, chloride 94 mmol/liter), normal renal function (creatinine 0.70 mg/dl), normal glucose (82 mg/dl), normal magnesium (1.9 mg/dl), markedly elevated parathyroid hormone (310 pg/ml, reference range 10-60), and elevated thyrotropin (7.69 μU/ml, reference range 0.40-5.00) with normal free thyroxine (1.4 ng/dl). Urine studies showed sodium 161 mmol/liter, calcium 0.9 mg/dl, and phosphorus 63.0 mg/dl.

Genetic analysis: methylation-specific MLPA of GNAS exons AS, XL, A/B, and NESP.

Methylation-specific MLPA analysis revealed abnormal GNAS methylation with loss of methylation at GNAS exons AS, XL, and A/B and gain of methylation at GNAS exon NESP, while the patient's mother showed normal methylation at all four differentially methylated regions.

Pseudohypoparathyroidism type 1B


A 27-year-old woman of European descent presented with a 5-month history of waxing and waning skin lesions, beginning with a painful erythematous papule on her chin that progressed to coalescing plaques. Additional similar lesions developed on both forearms, with some producing white fluid drainage. She also reported a 2-month history of episodic vulvovaginal ulcers, occasional nausea, myalgias, and intermittent fatigue. Her travel history included 2 months in Morocco and 2 months in Thailand 11 months prior, with recent travel to Jordan. She had a history of attention-deficit disorder and was taking birth control pills. Physical examination revealed a temperature of 36.5°C, blood pressure 90/52 mmHg, pulse 66 beats per minute, and BMI of 24.9. On her left chin was a 2-cm area of faded erythema with a depressed, atrophic plaque. Each forearm had a 5-cm, well-demarcated, depressed, atrophic plaque with no ulceration. Two 2-mm ulcers were present on the right labium minus and vaginal fourchette. Four weeks later, she developed fatigue and weakness in the left arm with numbness and tingling, and radial pulses were not palpable in either arm despite warm hands with normal skin color.

Laboratory results.

Laboratory results showed anemia with hematocrit 31% (reference 41-53%) and hemoglobin 9.5 g/dl (reference 13.5-17.5%), thrombocytosis with platelet count 685,000 per mm³ (reference 150,000-400,000), and elevated total alkaline phosphatase 244 U/liter (reference 30-100). White cell count was 8.8 per mm³ with neutrophils 56.6%, lymphocytes 33.6%, and mean corpuscular volume 79.2 fl.

Laboratory serologic testing for Bartonella henselae and quintana, Brucella IgG and IgM, Coxiella burnetii, Chlamydia pneumoniae and psittaci, Coccidioides immitis (including urinary antigen), cryptococcal blood antigen, Histoplasma capsulatum (antibodies and antigens), Blastomyces dermatitidis urinary antigen, and Francisella tularensis antibodies.

Extensive infectious disease serologic testing was negative, including Bartonella henselae and quintana antibodies, Brucella IgG and IgM antibodies, Coxiella burnetii antibodies, Chlamydia pneumoniae and psittaci antibodies, Coccidioides immitis antibodies and urinary antigen, cryptococcal blood antigen, Histoplasma capsulatum antibodies and antigens, Blastomyces dermatitidis urinary antigen, and Francisella tularensis antibodies.

(A) Skin biopsy, H&E staining, superficial dermis. (B) Skin biopsy, H&E staining, higher magnification.

Hematoxylin and eosin staining shows a granulomatous infiltrate in the superficial dermis (Panel A). At higher magnification, scattered neutrophils, eosinophils, and giant cells are seen (Panel B).

(A) Contrast-enhanced CT scan of the upper thorax, axial view. (B) T2-weighted MRI scan of the upper thorax, axial view. (C) Contrast-enhanced, three-dimensional magnetic resonance angiogram of the heart and aortic arch. (D) Contrast-enhanced MRI scan of the upper thorax, coronal view, delayed phase.

An axial, contrast-enhanced CT scan of the upper thorax (Panel A) shows wall thickening of the left subclavian artery and surrounding fat stranding (arrow), with no opacification (arrowhead). An axial, T₂-weighted MRI scan obtained at the same level (Panel B) confirms the absence of flow in the left subclavian artery (arrowhead) and shows that the wall is thickened, edematous, and surrounded by soft-tissue edema (arrow). A contrast-enhanced, three-dimensional magnetic resonance angiogram of the heart and aortic arch (Panel C) shows occlusion of the left subclavian artery at the origin (arrow). A coronal, delayed, contrast-enhanced MRI scan (Panel D) shows wall thickening and enhancement of the left subclavian artery (arrow).

Takayasu arteritis


53-year-old male with stage IV adenocarcinoma of the lung with no predictive genetic abnormalities (no EGFR mutation, no ALK or ROS1 translocation). Initial CT showed multiple bilateral pulmonary nodules, masses in mediastinal lymph nodes, liver, and ribs. No history of auto-immune disorders. Pre-treatment blood work showed positive antinuclear anti-SSA/Ro and anti-SSB/La antibodies (>240 U/mL, reference <10 U/mL). Serological testing for HIV, hepatitis B and C virus infections were negative.

MRI of the parieto-temporal region, T1-weighted imaging with gadolinium contrast.

MRI shows parieto-temporal lesion with T1 weighted imaging after Gadolinium-containing contrast material

NGS analysis of primary tumor.

NGS analysis from primary tumor showed mutations in multiple genes including ATM, TP53, and NOTCH1 among others

Stage IV adenocarcinoma of the lung with brain metastases and pre-existing high titers of antinuclear antibodies

lung adenocarcinoma

brain metastases

increased antibody titre


A 24-year-old male presented with identical isolated skin lesions on the right shoulder, left knee, and left ankle. The patient was febrile (38.5°C) with tender generalized lymphadenopathy. His medical history included 5 years of regular tetrahydrocannabinol (THC) use and occasional ecstasy use. Two weeks prior, he had taken methylenedioxypyrovalerone (MDPV), experienced a psychotic episode where he stripped naked and wandered through a forest, sleeping on straw. He had no personal history of atopy, though his sister had dermatitis. Investigation for immunosuppressive causes (HIV, lymphoma, diabetes, malnutrition) were negative. Small amounts of orthopoxvirus DNA were detected in serum by PCR analysis.

Clinical photograph of the right groin.

Clinical image shows cowpox virus skin infection on the right groin with hemorrhagic partially ulcerated nodules and surrounding inflammation.

Ultrathin section electron microscopy of skin biopsy.

Ultrathin section electron microscopy of skin biopsy showing orthopox-like virions located in a cytoplasmic virus factory of the infected cell.

Cowpox


A 45-year-old man with a history of dyslipidemia presented to the emergency department with chest pain. He woke up one hour earlier with burning, pressure-like substernal chest pain radiating to his left arm with associated nausea. He denied dyspnea, diaphoresis, or lightheadedness. The pain was constant, not worse with exertion, and not relieved by antacid medication. He managed his dyslipidemia with diet and exercise and took no prescription medications. Family history was notable for coronary artery disease in his father. He denied smoking cigarettes and drug use, and was physically active in martial arts. On examination, his blood pressure was 160/101 mm Hg, and his cardiovascular and respiratory examinations were unremarkable. Initial lab showed elevated serum creatine kinase of 1942 U/L (reference range 47-171 U/L).

ECG.

ECG showed sinus arrhythmia with first degree heart block, ST segment elevations in inferior leads (II, III, and aVF), and ST segment depressions in right precordial leads (V1 and V2)

(A) Coronary angiogram of the right coronary artery before thrombectomy. (B) Coronary angiogram of the right coronary artery after thrombectomy.

Coronary angiogram before (left) and after (right) thrombectomy. The white arrowhead indicates the location of luminal thrombus at one of the aneurysmal segments, shown by a lack of contrast beyond the vessel segment. The yellow arrowhead in the mid-right coronary artery indicates the site of aneurysm with restoration of distal flow following thrombectomy beyond the aneurysmal segment, as noted by the contrast-filled right coronary artery lumen. RCA: right coronary artery

Acute inferior wall myocardial infarction due to coronary artery aneurysm with acute intracoronary thrombosis

Acute myocardial infarction[inferior wall NOS]

Coronary artery aneurysm

coronary thrombosis


A 20-year-old man was seen at an outpatient clinic for pain and swelling of his left calf and a purpuric rash. He had a history of Crohn's disease diagnosed at age 10 which had required prolonged glucocorticoid treatment, with clinical improvement over the previous 3 years with weekly adalimumab therapy that accompanied a growth spurt. The patient had been well until 3 weeks prior to presentation when he developed sore throat, nonproductive cough, rhinorrhea, and chills. Two weeks before presentation, he traveled to the northwestern United States for backpacking and developed cramping left calf pain that worsened over 2 days with associated swelling that progressed from the calf to the foot, and an erythematous rash developed on the dorsum of both feet. He reported multiple previous self-limited episodes of similar upper respiratory symptoms over recent years. On examination, his vital signs showed temperature 36.2°C, blood pressure 118/70 mm Hg, pulse 70 beats per minute, respiratory rate 16 breaths per minute, and oxygen saturation 97% on room air. He appeared uncomfortable due to left leg pain. The nasal septum was intact. He had left ankle synovitis and normal peripheral pulses.

Clinical photograph.

Clinical photograph showing areas of crusting around both nares that developed three weeks before hospital presentation

(A) Clinical photograph of the left lower leg from calf to dorsal foot. (B) Clinical photograph of both lower legs. (C) Clinical photograph above the right medial malleolus.

Clinical photographs showing tenderness and swelling of left lower leg from calf to dorsal foot (Panel A), nontender palpable purpuric lesions on both lower legs but more numerous on the left (Panel B), and two tender 1-cm diameter nodules with overlying erythema above the right medial malleolus (Panel C)

(A) Skin biopsy specimen from the left ankle, H&E staining. (B, C) Skin biopsy specimen from the left ankle, H&E staining. (D) Skin biopsy specimen from the left ankle, H&E staining.

Skin-Biopsy Specimen from the Left Ankle (Hematoxylin and Eosin). A superficial and mid-dermal perivascular inflammatory infiltrate is shown (Panel A). It is composed predominantly of neutrophils, and there is prominent leukocytoclasis and erythrocyte extravasation (Panels B and C). Focal fibrinoid necrosis of the vessel walls is present (Panel D, arrow). These findings are consistent with the diagnosis of leukocytoclastic vasculitis.

(A, B) Immunohistochemistry for IgA. (C) Immunohistochemistry for C3. (D) Immunohistochemistry for fibrin.

Positive immunoreactivity for IgA (Panels A and B), C3 (Panel C), and fibrin (Panel D) is present in a granular, perivascular pattern. This pattern of staining is consistent with the diagnosis of IgA vasculitis.

IgA vasculitis


A 26-year-old man presented to the emergency department with a painful and swollen right hand after punching a wall the previous night. He was previously fit and well with no substantial medical history. On examination, his hand was swollen and bruised with no open wound present. He had tenderness over the dorsum of the hand, particularly over the fifth metacarpal. There was no obvious deformity, scissoring, or malrotation of the fingers, but he was unable to make a full fist due to pain. On extension, there was an extensor lag of the little finger.

(A) Radiograph of the right hand, anterior-posterior view. (B) Radiograph of the right hand, oblique view. (C) Radiograph of the right hand, lateral view.

Radiographs of the patient's right hand showing anterior-posterior, oblique, and lateral views revealing a closed fracture to the neck of the fifth metacarpal with approximately 50° of volar angulation

Closed fracture to the neck of the fifth metacarpal of his right hand, also known colloquially as a 'boxer's fracture'

Closed fracture of neck of fifth metacarpal bone

Fracture of neck of other metacarpal bone[Neck of the fifth metacarpal bone]


A 62-year-old man presented with palpitations occurring four times in the last week. He experienced a fast heartbeat and shortness of breath. The symptoms varied in timing and duration, with two episodes following alcohol intake. He denied chest pain or syncope. His medical history included hypertension treated with amlodipine. On physical examination, his blood pressure was 160/90 mm Hg with a regular heart rate of 82 beats/minute. Heart sounds and respiratory examination were normal.

(A) Holter monitoring report, general summary. (B) 3-lead ECG recording from Holter monitoring.

Holter monitoring report showing A) general summary of the recorded information and concluding on the presence of two episodes of paroxysmal atrial fibrillation. B) representative 3-lead ECG of atrial fibrillation in the same patient

Paroxysmal atrial fibrillation


A 5-year-old girl presented with a one-day history of fever, coryzal symptoms, and multiple skin lesions. She also reported abdominal pain and had vomited once. Physical examination revealed hypotension. Blood tests revealed anaemia, thrombocytopenia, high C reactive protein, acute renal failure, and coagulopathy.

Clinical photograph of limbs and face taken at admission during initial physical examination.

Figure 1 is a clinical photograph showing multiple petechial and purpuric lesions on the limbs and face of a five-year-old girl, taken at the time of admission during initial physical examination. The image documents the cutaneous manifestations characterized by small, non-blanching, purplish-red spots and larger areas of purpura distributed over the extremities and facial region, without subjective interpretation or procedural modification.

Clinical photograph of the lower limb skin, captured approximately 12 hours after initial presentation.

Figure 2 is a clinical photograph showing an irregular gangrenous purpura with a central dusky necrosis surrounded by fading redness involving the skin of the lower limb, captured approximately 12 hours after initial presentation in a 5-year-old girl with rapidly evolving skin lesions consistent with severe acute infection.

Blood culture, Gram staining, Gram negative diplococcus.

Blood culture showing a Gram negative diplococcus, which was ultimately identified as a meningococcus

Purpura fulminans caused by Neisseria meningitidis

Purpura fulminans

Meningococcal infection


48-year-old male presented with 1-week history of jaundice, dark brown urine, pale stools, and nausea. Medical history and physical exam were unremarkable. Laboratory findings showed hepatic panel in cholestatic pattern: total bilirubin 117 μmol/L, conjugated bilirubin 66.8 μmol/L, alkaline phosphatase 173 IU/L, γ-Glutamyltransferase 380 IU/L, Alanine transaminase 468 IU/L. CA19-9 was 11783 IU/mL. Lactate dehydrogenase (LDH) and β2-microglobulin were normal.

CT of the abdomen.

Abdominal CT scan showed a 4.2 cm × 4.1 cm hypodense mass within the pancreatic head and enlargement of several mesenteric and retroperitoneal lymph nodes

Histopathological section of the pancreatic mass, H&E staining, 20× magnification.

Figure 2 displays a histopathological section of the pancreatic mass using hematoxylin and eosin (H&E) staining at ×20 magnification, showing large atypical lymphoid cells scattered among small reactive lymphocytes and less frequently histiocytes.

(A) Immunohistochemistry, CD20 staining. (B) Immunohistochemistry, CD3 staining. (C) Immunohistochemistry, CD68 staining. (D) Immunohistochemistry, Ki-67 staining.

Immunohistochemistry studies showed: A) Dispersed CD20 positive large B cells, B) Numerous CD3 positive small T cells in background, C) CD68 positive histiocytes in background, D) Ki-67 expression of neoplastic cells

Primary pancreatic T-cell/histiocyte-rich large B-cell lymphoma (T/HRBCL)

T-cell/histiocyte rich large B-cell lymphoma


This is a two-year-four-month-old female, born by a primigravida at 39 weeks of gestation via Cesarean section due to placenta failure. She displayed features of intrauterine growth restriction (IUGR) with birth weight of 1850g (<3 percentile), height 44.5cm (<3 percentile), and head circumference 31cm (<3 percentile). Her Apgar score at 1 minute was 9. At age three months, she was treated for suspected hypoacusis, with ABR testing revealing bilateral severe sensorineural hearing loss, requiring hearing aid placement at 4 months. Throughout infancy, she demonstrated physical developmental delay with weight and height substantially below the 3rd percentile, but normal psychomotor development - sitting at 8 months, walking at 14 months, and talking at 13 months. MRI of the central nervous system showed no abnormalities. Molecular genetic testing revealed a novel heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1, confirmed to be a de novo mutation not present in biological parents.

Clinical photograph of the head in profile view at age two years four months.

Figure 1 presents a clinical photograph depicting the patient's head in profile view, demonstrating dysmorphic features including a triangular-shaped face with a prominent forehead and deeply-set eyes; this image documents the external phenotype of the two-year-four-month-old female patient with SHORT syndrome at the time of clinical evaluation.

Clinical photograph, frontal view, acquired at the age of 2 years and 4 months.

Figure 2 in this article consists of a clinical photograph showing the dysmorphic features and overall body silhouette of the patient in a front view; the image documents growth retardation and characteristic bodily features associated with SHORT syndrome in a two-year-four-month-old girl, with no special imaging modality or staining applied, and acquisition timing corresponding to the clinical assessment around the age of 2 years and 4 months.

Clinical photograph of the lumbar region taken at age two years and four months.

Figure 3 is a clinical photograph showing the lumbar region of the patient, documenting partial lipodystrophy as observed on physical examination. This image was taken during clinical evaluation at the age of two years and four months and depicts the anatomical site of the lower back, with no specific imaging modality, staining, or magnification applied, and highlights the visible reduction of subcutaneous adipose tissue characteristic of SHORT syndrome.

Clinical photograph of the elbow region acquired during clinical evaluation.

Figure 4 presents a clinical photograph showing the anatomical site of the elbow region, demonstrating partial lipodystrophy around the elbow in a two-year-four-month-old girl diagnosed with SHORT syndrome; the image was acquired during the patient's clinical evaluation, and no imaging or staining modalities were used.

Table summarizing clinical features of SHORT syndrome compared with the described patient.

Table 1 on page 5, titled "The comparison of features typical of SHORT syndrome, with our patient's features," is a clinical summary table that lists hallmark features commonly found in SHORT syndrome across several organ systems and phenotypic traits. For each characteristic, the table indicates whether the manifestation was present ("+") or absent ("-") in the described patient. The table encompasses domains including development (short stature, low body weight), phenotypic traits (triangular face, prominent forehead, small chin, thin or underdeveloped nostrils, large mouth with thin downturned lips, low set ears), ocular features (Rieger anomaly, deeply-set eyes, glaucoma, cataract, myopia), dental abnormalities (delayed teething, microdontia, hypodontia, lack of protective layer), skeletal anomalies (delayed bone age, joint hyperextensibility, clinodactyly), skin/subcutaneous tissue characteristics (thin and wrinkled skin with well-visible blood vessels, lipoatrophy), neurodevelopmental findings (intelligence within normal ranges, delayed speech development), urinary system findings (nephrocalcinosis), and endocrine findings (glucose intolerance/diabetes mellitus, insulin resistance). The table shows this patient exhibits most classic dysmorphic and developmental features of SHORT syndrome, while lacking Rieger anomaly, joint hyperextensibility, clinodactyly, nephrocalcinosis, some dental anomalies, and endocrine disturbances at the time of reporting.

SHORT syndrome


An 87-year-old man presented with a one-year history of difficulty swallowing, with episodes of choking and aspiration that progressively increased in frequency. Laryngeal examination revealed extraluminal obstruction from behind. The patient had multiple comorbidities as mentioned in the case.

Video fluoroscopic swallow study.

Video fluoroscopic swallow study showing retention of barium contrast at the epiglottis and vallecula

Dysphagia secondary to oesophageal compression by anterior cervical osteophytes

Dysphagia

Osteophyte


34-year-old man in Scotland presented with an expanding itchy rash on the right flank that persisted for three months. He did not recall any insect bite or foreign travel history, but regularly visits the Scottish highlands. Initial Borrelia serology performed at 4 weeks after rash onset was negative.

Clinical photograph of the right flank.

Large annular rash on the right flank covering the posterior and lateral aspects, with an erythematous raised border and central clearing

Lyme disease (or Lyme borreliosis) presenting as erythema migrans

Lyme disease

Erythema migrans


A 22 year old man presented to the emergency department with abdominal pain, jaundice, itching, and fever. His urine was dark and stools pale. Physical examination revealed temperature of 38.7°C, icterus, abdominal tenderness worst in the right upper quadrant with negative Murphy's sign, impalpable gall bladder, inflamed oropharynx with cervical and axillary lymphadenopathy. Laboratory tests showed liver function abnormalities with alkaline phosphatase 327, aspartate aminotransferase 358, and bilirubin 109 suggesting cholestasis. White cell count was elevated at 20.8, C reactive protein was raised at 17, and platelets were low at 168. Monospot test was positive for Epstein Barr virus, confirmed by positive Epstein Barr virus serology. Hepatitis A, B, and C serology were negative.

Ultrasound of the abdomen, spleen and gallbladder, gallbladder wall thickness 10 mm.

Ultrasound revealed splenomegaly with normal hepatopetal flow and a markedly thickened (10 mm) gallbladder wall but no gallstones or sludge. The common bile duct was not dilated.

Axial T2-weighted magnetic resonance cholangiopancreatography.

Axial T2 weighted magnetic resonance cholangiopancreatography sequence confirmed oedematous gallbladder wall, absence of gallstones, normal common bile duct, and splenomegaly.

Acute acalculous cholecystitis secondary to infectious mononucleosis

acute acalculous cholecystitis

Infectious mononucleosis


A 50-year-old man presented with a 3-week history of back pain and a skull mass that had been growing slowly for 7 months. Physical examination revealed a smooth, firm, and non-tender mass on his skull that gave him the appearance of having a high domed forehead. Laboratory investigations showed renal impairment, hypercalcaemia, anaemia, and immunoparesis. Lambda light chains were detected in both urine and serum. Bone marrow aspirate showed a low level infiltration of plasma cells, though the patient could not tolerate a bone marrow biopsy. A biopsy of the thoracic lesion revealed a monomorphic population of plasma cells that were strongly positive for CD138 and lambda light chain restricted.

(A) Coronal T1-weighted post-gadolinium MRI of the brain. (B) MR venogram of the brain.

(A) Post-gadolinium coronal T1-weighted magnetic resonance (MR) scan of the brain showing a vividly enhancing soft tissue mass arising from the skull. (B) MR venogram showing the extent of the tumour vascularity.

Multiple myeloma with extramedullary plasmacytoma

multiple myeloma

Extramedullary plasmacytoma


A 74-year-old woman was referred to the general surgery clinic after discovering a lump in her lower abdomen that she had noticed 4-5 weeks previously. She reported a feeling of incomplete bowel emptying and reduced frequency of bowel movements but had no blood or mucus in her stool, no abdominal pain, no lower urinary tract symptoms, and no vaginal discharge. She had experienced a two stone (12.7 kg) weight loss over several months, which she attributed to a recent diagnosis of diabetes mellitus. Her surgical history included a total abdominal hysterectomy and bilateral salpingo-oophorectomy in 1996 for menorrhagia. On physical examination, she had a large non-tender soft swelling in the right iliac fossa with no evidence of inguinal, femoral, or pfannenstiel incisional hernia. Blood tests were unremarkable, and colonoscopy identified only mild diverticular disease.

CT of the abdomen, sagittal view, with intravenous and oral contrast.

Sagittal slice of a computed tomogram of the abdomen with intravenous and oral contrast showing the abdominal findings.

CT of the abdomen, axial view, with intravenous and oral contrast.

Axial slice of a computed tomogram of the abdomen with intravenous and oral contrast.

Spigelian hernia


A 65-year-old man with a 40 pack-year smoking history presented with a one-month history of worsening breathlessness and chest discomfort on walking. He came to hospital following a collapse that occurred after self-administering sublingual glyceryl trinitrate to relieve his symptoms. He reported no history of cough or coryza, had not lost weight, and experienced no haemoptysis. Laboratory testing revealed a raised serum D-dimer level.

Chest radiograph on admission.

Chest radiograph on admission shows reticulonodular opacities with asymmetrical or unilateral interstitial changes

CT pulmonary angiogram, transverse section, right lung and adrenal region.

CT pulmonary angiogram transverse section demonstrates a mass in the right upper lobe with extensive septal thickening consistent with lymphangitis carcinomatosa throughout the right lung, alongside adrenal metastasis

Squamous cell lung cancer staged at T4N3M1b with lymphangitis carcinomatosa

Squamous cell cancer of lung

lymphangitis carcinomatosa


A 52-year-old man presented with a 2-week history of exertional chest discomfort, described as a sensation of fullness in the center of his chest without radiation, and dyspnea. These symptoms were not present at rest, and he had no light-headedness or syncope. His medical history included type 2 diabetes mellitus, hypertension, dyslipidemia, and obstructive sleep apnea treated with CPAP. His father had hypertrophic cardiomyopathy, and the patient's screening echocardiogram 3 years prior showed mild left ventricular hypertrophy but otherwise normal cardiac structure and function. On examination, he was afebrile with BP 146/70 mmHg, heart rate 70/min, respiratory rate 14/min, and BMI 36.2. Physical exam showed normal jugular venous pressure, regular heart rate and rhythm with no murmurs/rubs/gallops, and normal lung and abdominal findings. His legs were warm without edema and had symmetric distal pulses. Initial laboratory findings showed WBC 10,900/mm3 (77% neutrophils, 16% lymphocytes, 6% monocytes, 2% eosinophils), normal INR, creatinine 1.6 mg/dL (baseline 1.0), BUN 15 mg/dL, sodium 135 mmol/L, potassium 5.4 mmol/L, and normal thyrotropin and troponin I levels.

ECG

ECG showed normal sinus rhythm, right atrial abnormality, and T-wave inversion in the inferior and lateral precordial leads

12-lead electrocardiogram taken at admission.

Figure 2 in this article displays a 12-lead electrocardiogram (ECG) showing sinus bradycardia with intermittent sinus arrest and third-degree atrioventricular block; the image represents an admission ECG taken during an episode of acute hemodynamic decompensation, with limb and precordial leads demonstrating a markedly slow ventricular rate, absence of atrioventricular conduction, and periods of sinus node inactivity, without evidence of acute myocardial ischemia.

ECG, heart rate 160 beats per minute, wide-complex tachycardia.

ECG showed wide-complex tachycardia at a rate of 160 beats per minute

Endomyocardial biopsy.

Endomyocardial biopsy revealed substantial disruption of myocytes, with dense mononuclear inflammation, thickened endocardium, and multiple giant cells with nuclei localized at peripheral edges. No vasculitis or granulomas were seen. Stains for fungi and acid-fast bacilli were negative.

Giant cell myocarditis


93-year-old male with a destructive scalp squamous cell carcinoma. Presented with sudden onset aphasia. Neurological examination was otherwise unremarkable.

CT of the brain.

Cranial CT scan shows extensive pneumocephalus (intracranial air). The frontal lobes are compressed and the interhemispheric space between the two tips of the frontal lobes shows the 'Mount Fuji' sign.

CT of the vertex, bone window.

CT image at the vertex (bone window) shows scalp defect with extensive full thickness bone destruction of the calvarium in the posterior left parietal region. Pockets of free intracranial air are visible.

Pneumocephalus due to a bony defect at the level of scalp tumor

pneumocephalus

neoplasm NOS

Localised skull defects


A 35-year-old man presented with 16 kg weight loss over the months, low mood, and poor appetite, expressing concern that he might have cancer. He had a significant history of heavy alcohol consumption, drinking 500 ml of high concentration spirits daily until age 28 when he experienced an episode of acute pancreatitis five years ago, after which he completely abstained from alcohol. He was a current smoker consuming 10 cigarettes per day and had been a hepatitis B virus carrier for 10 years, taking entecavir for three years but not consistently. Physical examination revealed mild abdominal tenderness. Laboratory tests showed serum lipase of 65 U/L (normal 60 U/L), elevated aspartate amino transferase of 380 U/L (normal 0-40 U/L), elevated amino alanine transferase of 210 U/L (normal 0-40 U/L), and normal fasting blood glucose of 4.72 mmol/L (normal 3.82-6.11 mmol/L).

CT scan of the abdomen.

CT scan of the abdomen showing extensive high density shadow analogous to a bony structure representing a calcified suffused pancreas, suggesting advanced chronic pancreatitis.

Chronic pancreatitis


An 8-year-5-month-old male patient was born at full-term to consanguineous Han parents from Gansu Province with a birth weight of 2.5 kg via normal spontaneous vaginal delivery. He displayed significant motor and cognitive developmental delay with mental retardation, never achieving head control or the ability to sit unsupported, only learning to turn over by himself at age 5. He could neither speak nor communicate with others. Physical examination revealed a myopathic face, high-arched palate, nystagmus, generalized muscle weakness, and marked hypotonia. Deep tendon reflexes were absent, both knee and ankle joint contractures were present, and the right Babinski sign was positive with left Babinski probably positive. Laboratory testing showed serum CK level of 1514 U/L.

(A) Fundus photograph of the right eye in patient 1. (B) Fundus photograph of the left eye in patient 1. (C) Fundus photograph of the ocular fundus in patient 3. (D) Fundus photograph of the ocular fundus in patient 3.

Figure 1 presents fundus photographs of the eyes in patient 1 and patient 3. Specifically, subfigures A and B display fundus photographs of patient 1, with (A) showing the right eye (OD) demonstrating a cataract, and (B) showing the left eye (OS) revealing optic nerve atrophy and retinal dysplasia; subfigures C and D depict patient 3, with (C) and (D) showing retinal and choroidal pigment epithelium atrophy and optic nerve atrophy. The imaging modality is fundus photography, targeting the ocular fundus, and the key findings include right eye cataract, left eye optic nerve atrophy and retinal dysplasia for patient 1, and pigment epithelium atrophy along with optic nerve atrophy for patient 3 (as described in the figure caption and corroborated by the body text on page 2).

Brain MRI at 3 years and 6 months of age, T1-weighted and T2-weighted sequences.

Brain MRI performed at 3 years and 6 months of age showed micropolygyria, septum pellucidum absence, corpus callosum dysplasia, cerebellum hypoplasia, and cerebellar cysts with abnormal white matter signals in T1W and T2W. The MRI also showed right microphthalmus, amotio retinae, and left eye irregular shape

NGS analysis of exons 18 and 19. current patient is referred as Patient 1.

NGS analysis showed patient/control ratios of 0 in exons 18 and 19, indicating homozygous deletion of these exons

Muscle-eye-brain disease (MEB) with homozygous POMGNT1 copy number variation g.6668-8257del

Muscle Eye Brain disease


A 35-year-old man presented with three months of progressive parasthesia affecting his right arm, leg, and torso. He complained of intermittent headaches, particularly after coughing, and episodes of vertigo. Physical examination revealed hyperreflexia and numbness in the right limbs, with preserved joint position sense.

Sagittal T2-weighted MRI of the neck and cervical spine.

Sagittal T2 weighted MRI scan of the neck and cervical spine showed tonsillar descent

Chiari malformation type I


A 44-year-old man with a 17-year history of tobacco and cannabis use presented with acute dyspnoea and left-sided pleuritic chest pain. He had no other medical conditions and took no regular medications. On examination, he was thin and hypoxic, with a silent, hyper-resonant left hemithorax. Laboratory results showed normal α-1 antitrypsin concentration (1.4 g/L), normal immunoglobulins, and specific IgE for Aspergillus. Spirometry revealed severe obstruction with FVC of 2.95 L (57% predicted), FEV1 of 1.37 L (34% predicted), and FEV1/FVC ratio of 59% predicted.

Chest radiograph.

Chest radiograph showed a large left upper lobe bulla and an incidental air rifle pellet.

CT scan.

Initial CT scan showed diffuse emphysematous disease.

Giant bullous emphysema (vanishing lung syndrome)

bullous emphysema

Vanishing testes syndrome


35-year-old vegetarian Indian woman living in UK for 3 years. History of total thyroidectomy for toxic nodular goitre earlier in the year, on calcium supplements. Presented to emergency department with first episode of seizure after trip to India. Had experienced vague abdominal discomfort two weeks before seizure. Family history notable for grandmother in India having experienced delirium, dizziness, and headaches two months prior (self-resolved). Patient's husband also experienced similar vague abdominal discomfort two weeks before patient's presentation.

MRI of the brain, axial view at the level of the centrum semiovale, T2 fluid attenuated inversion recovery (FLAIR) sequence.

T2 fluid attenuated inversion recovery axial MRI image through the brain at the level of the centrum semiovale showing lesion with scolices and perilesional oedema around the right frontal lobe

Neurocysticercosis, based on MRI findings showing classic sign of ring lesion with scolices and perilesional oedema around the right frontal lobe

neurocysticercosis


A-year-old asymptomatic female patient was referred to the hospital. She had no history of cardiovascular disease but had experienced a spontaneous abortion 3 years previously and is a mother of three children. She has a positive family history of cardiovascular diseases and cancer (lung adenocarcinoma and brain tumour). Physical examination revealed distant heart sounds with a regular rate and rhythm. Abdominal ultrasound examination found no abnormalities, and hormone test results were normal, excluding a hormone-secreting nature of the tumour.

(A) Chest X-ray, 2004. (B) Chest X-ray, 2007. (C) Chest X-ray, 2010. (D) Chest X-ray, 2014.

Chest X-ray examinations performed in 2004 (panel a), 2007 (panel b), 2010 (panel c) and in 2014 (panel d). Arrows show the enlarged cardiac silhouette

(A) Transthoracic 2D echocardiography, parasternal long-axis plane. (B) Transthoracic 2D echocardiography, short-axis plane. (C) Transthoracic 2D echocardiography, apical four-chamber view.

Transthoracic 2D echocardiography in the parasternal long-axis plane (panel a), short-axis plane (panel b) and apical four-chamber view (panel c). Arrows show the intrapericardial mass

(A, B) Cine MRI, long-axis plane. (C, D) Cine MRI, short-axis plane, diastolic phase. (E) MRI, proton density-weighted image. (F) MRI, T2-weighted SPIR image. (G) MRI, LGE, long-axis plane. (H) MRI, LGE, short-axis plane.

Cine movie MRI images in the long- (panel a, b) and short-axis planes in diastolic phase (panel c and d). Intermediate signal intensity on proton density-weighted images (panel e) and high signal intensity on T2-weighted SPIR images (panel f). LGE images in the long- (panel g) and short-axis planes (panel h). Arrows show the intrapericardial tumour

(A) Coronary CTA, axial plane. (B) Coronary CTA, two-chamber view reconstruction.

Coronary CTA images (panel a: axial plane, panel b: two-chamber view reconstruction) showed that coronary arteries were not invaded by the tumour. Arrows show the left anterior descending artery

Intrapericardial solitary fibrous tumour

neoplasm NOS


A 57-year-old male patient presented with a three-month history of fatigue, recurrent sore throats, and a persistent 'cold sore.' The patient had no relevant medical history, drank little alcohol, and was a non-smoker.

Clinical photograph of the perioral region obtained at initial presentation.

Figure 1 is a clinical photograph showing an irregular and indurated ulcer at the right oral commissure, obtained on the patient's initial presentation; the image demonstrates the anatomical location at the perioral region and provides visual evidence of the lesion's morphology, but does not involve a specific imaging or staining modality, nor does it specify particular magnification or orientation.

Clinical photograph of the left submandibular region of the neck.

Figure 2 shows a clinical photograph depicting an ipsilateral swelling palpable in the submandibular triangle; the image demonstrates a visible swelling in the left submandibular region of the neck, indicating regional lymphadenopathy in association with an oral commissure lesion.

Primary syphilis, confirmed by positive enzyme immunoassay for IgM, raised venereal disease research laboratory titre, unilateral painless cervical lymphadenopathy, and a perioral lesion with a plasma cell rich infiltrate

primary syphilis

Unilateral painless cervical lymphadenopathy

Cervical lymphadenopathy

Perioral lesion with plasma cell rich infiltrate

Plasma cell neoplasms


53-year-old woman with chronic low back pain and partial paralysis from a thoracic spinal cord infarction, secondary to aortic dissection from prior cocaine use. She reported pain levels of 5/10, which improved to 2/10 with hydrocodone/acetaminophen. She reported no recent illicit substance or drug use and stated her last dose of hydrocodone was that day. Prior treatments with duloxetine and gabapentin had failed to control pain. State prescription drug monitoring program showed no other prescribers of controlled substances.

Laboratory urine drug screen results.

Urine drug screen results showed: Negative for benzodiazepines, THC, MDMA, methadone, methamphetamine, opiates, and phencyclidine. Positive for cocaine.

Active cocaine use with chronic pain requiring pain management

Disorders due to use of cocaine

Chronic pain


A 19-year-old man of Kachin ethnicity presented with fever (39.5°C) and was diagnosed with vivax malaria by microscopy. After receiving treatment, he experienced two days of passing dark urine, followed by an episode of syncope. On admission, he weighed 59 kg and was afebrile (36.2°C), with heart rate 120 beats/min, blood pressure 70/40 mm Hg, and respiratory rate 36 breaths/min. He was moderately jaundiced with pale conjunctivae and nail beds. The spleen was palpable at 1.5 cm below the left costal margin. Initial laboratory findings showed reduced hemoglobin (34 g/L; reference range 110-160), hematocrit (9.2%; 35-50), and red blood cell count (1.1×1012/L; 3.5-5.5×1012). The patient's urine contained bilirubin and hemoglobin but no red blood cells. Total bilirubin was 71.9 µmol/L (reference range 3.4-17.1), unconjugated bilirubin 52.1 µmol/L (1.7-10.2), urea nitrogen 18.45 mmol/L (1.07-7.14), and creatinine 235.4 µmol/L (44-132). Blood smear was negative for malaria parasites and beam test was negative. A fluorescent spot test found G6PD deficiency.

Electropherogram of SNaPshot genotyping for the G6PD gene.

Electropherogram showing SNaPshot genotyping for the G6PD gene revealed that the patient carried the G6PD Mahidol variant (487G >A) hemizygote

Primaquine-induced acute hemolytic anemia in a G6PD-deficient patient with the Mahidol variant

Glucose-6-phosphate dehydrogenase deficiency

acute Lederer haemolytic anaemia

Diseases of the blood or blood-forming organs


A 55-year-old male smoker (30 pack-years, recently quit) presented with cough, sputum, and dyspnea on exertion for three months. He had no past medical history. Physical examination showed decreased lung sounds in bilateral lung fields, with no peripheral lymphadenopathy, organomegaly, or skin lesions. Laboratory findings were notable for mildly elevated AST (50 IU/L) and ALT (54 IU/L).ia (PaO2 60.3 mmHg, PaCO2 31.0 mmHg, pH 7.455). Pulmonary function tests revealed decreased DLCO (58.66% predicted), FVC (85.74% predicted), FEV1 (77.71% predicted), and FEV1/FVC ratioonchoalveolar lavage showed 55% lymphocytes with CD8/CD4 ratio of 1:1 and 7% eosinophils.

(A, B) CT scan of the lungs, axial view. (C) CT scan of the lungs, coronal view.

Follow-up CT scan shows diffuse GGOs at both lungs with underlying emphysema. Arrows indicate sites of wedge resections. Posterior basal segment of right lower lobe (A) and lateral segment of right middle lobe (B). (A, B) Axial view. (C) Coronal view. CT = computed tomography, GGOs = ground glass opacities.

(A) Lung biopsy, histopathology, magnification ×200. (B) Lung biopsy, granzyme B staining, magnification ×200. (C) Lung biopsy, CD2 staining, magnification ×200. (D) Lung biopsy, CD3 staining, magnification ×200. (E) Lung biopsy, EBER in situ hybridization, magnification ×100.

Histopathology of the lung biopsy. (A) Angiocentric infiltration of the lung parenchyme (magnification × 200). (B) Neoplastic cells stained for granzyme B (magnification × 200). (C) Neoplastic cells stained for CD2 (magnification × 200). (D) Neoplastic cells with loss of expression for surface CD3 (magnification × 200). (E) EBERs by in situ hybridization (magnification × 100). EBERs = Epstein-Barr virus encoded small nuclear RNAs.

PET-CT scan of the lung, FDG modality.

Figure 3 presents a positron emission tomography-computed tomography (PET-CT) scan demonstrating no significant fluorodeoxyglucose (FDG) uptake to suggest malignancy; notably, the region of the lung confirmed by biopsy to contain extranodal natural killer/T-cell lymphoma, nasal type (ENKTCL), also shows no abnormal FDG uptake.

Primary Pulmonary Extranodal Natural Killer/T-cell Lymphoma (ENKTCL), Nasal Type

Primary pulmonary extranodal natural killer/T-cell lymphoma

Primary pulmonary lymphoma

Extranodal natural killer/T-cell lymphoma, nasal type

Extranodal NK/T-cell lymphoma, nasal type


A 26-year-old woman presented with a one-year history of rash on her lower legs, abdomen, and arms, accompanied by a six-month history of paraesthesia in her right hand and left foot. She had no history of fatigue, weight loss, fever, or arthralgia. Neurological examination showed reduced sensation to light touch in the right ring and little fingers, the lateral palmar and dorsal hand, the left lateral calf, and the dorsum of the left foot. She experienced clumsiness in her right hand causing difficulty with writing, but no weakness was noted. Blood tests, including a full autoimmune screen, were normal. Electromyography demonstrated sensory damage in the right ulnar nerve and asymmetrical superficial sensory damage in the peroneal nerve, with greater involvement on the left side.

Clinical photograph of the abdomen obtained during dermatology evaluation.

Figure 1 is a clinical photograph showing broken livedo reticularis on the abdomen, depicting the cutaneous manifestation of retiform erythema and disrupted vascular pattern in a 26-year-old woman with a one-year history of rash on her lower legs, abdomen, and arms; the image was obtained during her dermatology evaluation, and it provides direct visual evidence of the skin findings without further imaging modalities or staining.

Histology of deep skin biopsy from left lower leg.

Histology of deep skin biopsy from left lower leg showing medium vessel vasculitis with fibrinoid necrosis

Mononeuritis multiplex due to cutaneous polyarteritis nodosa

Mononeuritis multiplex

Cutaneous polyarteritis nodosa


A 59-year-old woman was admitted to the hospital with a 9-day history of stiffness, swelling, and severe pain beginning in the metacarpophalangeal joint of the right thumb, followed by bilateral ankle involvement 3 days later. She had a history of stroke, glaucoma, and total abdominal hysterectomy with bilateral salpingo-oophorectomy 7 years prior. The patient lived in New England, worked in health care, and reported unprotected vaginal intercourse 2 weeks before presentation. Physical examination showed the right thumb metacarpophalangeal joint was erythematous, warm, and painful with movement. Both ankles showed effusion and warmth without erythema, with pain on all range of motion. No fever, chills, night sweats, or systemic symptoms were reported. Joint stiffness was not worse in the morning and did not improve throughout the day. Symptoms had not improved despite 4 days of methylprednisolone therapy.

(A) Synovial fluid culture on blood agar plate after 24 hours incubation. (B) Synovial fluid culture on chocolate agar plate after 24 hours incubation. (C) Gram staining of colony. (D) Gram staining of blood culture. (E) Molecular testing.

Culture of the synovial fluid on a blood agar plate (Panel A) and on a chocolate agar plate (Panel B) showed a small, wet‑appearing colony after 24 hours of incubation. Gram’s staining of the colony (Panel C) revealed gram‑negative diplococci. Gram’s staining of a bottle of blood (Panel D) also revealed gram‑negative diplococci. Molecular testing confirmed that both isolates were Neisseria gonorrhoeae.

Septic arthritis due to disseminated infection with Neisseria gonorrhoeae

septic arthritis

Disseminated gonococcal infection


A 64-year-old man was evaluated in the emergency department for dyspnea, wheezing, headaches, cough, and night sweats. Approximately 5 months before presentation, he developed a cough with thin yellow sputum, followed by exertional dyspnea, chest tightness, and wheezing. Ten days before this presentation, he developed lethargy, myalgias, chills, headaches, anorexia, and night sweats. On the day before presentation, his primary care physician noted a temperature of 37.8°C, heart rate of 105 beats per minute, blood pressure of 100/70 mm Hg, oxygen saturation of 98% on ambient air, and harsh breath sounds. On examination at this hospital, he appeared mildly ill with a temperature of 38.7°C, heart rate of 118 beats per minute, blood pressure of 133/74 mm Hg, and oxygen saturation of 96% on ambient air. He reported bitemporal bandlike headaches, neck stiffness, and photophobia. Physical examination revealed neck stiffness, inspiratory crackles in both lungs, and mild synovial thickening in the hands consistent with chronic arthritic changes. His medical history included fibromyalgia, L5 radiculopathy with foot drop, carpal tunnel syndrome, knee osteoarthritis, neck osteoarthritis, cervical spondylosis, sleep apnea, and peptic ulcer disease. He worked in a healthcare facility and had traveled to Florida and Europe/Caribbean recently. His sister had systemic lupus erythematosus, scleroderma, and Hashimoto's thyroiditis.

Laboratory results.

Laboratory results show progressive leukocytosis from 10,000 to 21,130 per mm³ with neutrophilia (80.2%) and eosinophilia (4.6% or absolute count of 972 per mm³), elevated erythrocyte sedimentation rate of 34 mm/hr, and electrolyte abnormalities including low sodium (132 mmol/L) and chloride (95 mmol/L). One day before presentation showed microscopic hematuria with 5 RBCs per high-power field.

(A) Axial CT at the level of the carina. (B) Axial CT at the level of the lung bases.

Axial images obtained at the level of the carina (Panel A) and at the lung bases (Panel B) show bronchial‑wall thickening, ground‑glass opacities in a predominantly peribronchial distribution (Panel A, arrows), and patchy subpleural opacities (Panel B, arrows).

Indirect immunofluorescence assay of blood specimen using ethanol-fixed human neutrophils.

Blood specimen tested by indirect immunofluorescence after incubation with ethanol-fixed human neutrophils reveals a bright perinuclear staining pattern, which typically corresponds to the presence of autoantibodies to myeloperoxidase.

Eosinophilic granulomatosis with polyangiitis


A 28-year-old man was brought to hospital after a road traffic incident where his right knee impacted against the dashboard during collision. He described hearing a 'pop' at the time of impact and subsequently experienced extreme pain. On examination in the emergency department, his knee was swollen and tender with severely limited range of movement. After initial management and once the swelling resolved, re-examination revealed the knee was grossly unstable with positive posterior sag sign.

Clinical photograph of the right knee obtained after hospital admission and initial management.

Figure 1 is a clinical photograph of the patient’s right knee, obtained after hospital admission and initial management, demonstrating the grossly unstable knee. The image type is a clinical photograph, and the anatomical site examined is the patient’s right knee. The photograph was taken following a road traffic accident and after acute swelling subsided to facilitate re-examination. The key visual finding in the image, as described in both the caption and accompanying body text on page 1, is the observation of gross instability of the knee suggestive of ligamentous injury, particularly relevant to the clinical context of posterior cruciate ligament injury. No specific imaging modality, staining method, or magnification applies as this is a gross clinical image rather than a radiographic or histopathological figure.

Posterior cruciate ligament injury with potential multi-ligament knee injury

Rupture of posterior cruciate ligament

Injury of knee, unspecified


A 36-year-old man with opioid-use disorder presented to the emergency department after an overdose. His history began 4 years prior with hand surgery and subsequent hydromorphone administration, which led to seeking prescription opioids and later heroin use. He had previously attempted rehabilitation multiple On the day of presentation, he had injected heroin (believed to be mixed with fentanyl) twice, at 10 AM and 1:30 PM. When found in a park lying in slush, he was unresponsive with a Glasgow Coma Scale score of 3, temperature 35.6°C, pulse 88/min, BP 122/76 mmHg, respiratory rate 4/min, and oxygen saturation 80% on room air. He had pinpoint pupils and shallow breathing. Initial examination in the ED showed temperature 35.9°C, pulse 84/min, BP 115/69 mmHg, respiratory rate 16/min, and oxygen saturation 93% on 6L oxygen. Laboratory results showed normal complete blood count, electrolytes, renal function, and blood glucose of 165 mg/dL. Venous blood gas showed pH 7.29, pCO2 68 mmHg, pO2 <28 mmHg, bicarbonate 32 mmol/L. ECG showed nonspecific ST-segment and T-wave abnormalities.

Portable anteroposterior chest radiograph.

Initial portable anteroposterior chest radiograph showed cephalization of pulmonary vasculature and fluid in the minor fissure, consistent with interstitial pulmonary edema. Bilateral faint reticulonodular and patchy airspace opacities suggested superimposed aspiration.

1. Unintentional opioid overdose, possibly from heroin mixed with fentanyl 2. Opioid-induced noncardiogenic pulmonary edema

overdose NOS

Pulmonary oedema


A 65-year-old man presented with bilateral leg swelling that had worsened over six weeks. He reported vague abdominal discomfort and tiredness. Physical examination revealed bilateral pitting edema up to the groin, without erythema, tenderness, or warmth. The patient was systemically well with normal heart sounds and clear chest examination. No palpable masses or lymphadenopathy were found in the abdomen. Laboratory testing showed normocytic anemia (hemoglobin 95 g/L; normal range 130-180), elevated C-reactive protein of 33.0 mg/L (normal range 0-5.0), and raised IgG4 level (3.55 g/L; normal range 0.08-1.4). Doppler ultrasound showed no deep vein thrombosis.

(A) CT of the abdomen and pelvis, cross-sectional view. (B) CT of the abdomen and pelvis, coronal view.

Cross sectional and coronal views of computed tomography of the abdomen and pelvis showed a mass encasing the aorta, suggesting retroperitoneal fibrosis

Retroperitoneal fibrosis secondary to IgG4 related disease

Retroperitoneal fibrosis

IgG4 related disease