question

Abdominal pain, ascites, and hepatomegaly

answer

Budd-Chiari syndrome (posthepatic venous thrombosis)

question

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

answer

Clostridium difficile infection

question

Achilles tendon xanthoma

answer

Familial hypercholesterolemia (decreased LDL receptor signaling)

question

Adrenal hemorrhage, hypotension, DIC

answer

Waterhouse-Friderichsen syndrome (menengococcemia)

question

Anaphylaxis following blood transfusion

answer

IgA deficiency

question

Anterior "drawer sign" ⊕

answer

Anterior cruciate ligament injury

question

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

answer

Marfan syndrome (fibrillin defect)

question

Athlete with polycythemia

answer

2° to erythropoietin injection

question

Back pain, fever, night sweats

answer

Pott disease (vertebral TB)

question

Bilateral acoustic schwannomas

answer

Neurofibromatosis type 2

question

Bilateral hilar adenopathy, uveitis

answer

Sarcoidosis (noncaseating granulomas)

question

Black eschar on face of patient with diabetic ketoacidosis

answer

Mucor or Rhizopus fungal infection

question

Blue sclera, brittle bones

answer

Osteogenesis imperfecta (type I collagen defect)

question

Bluish line on gingiva

answer

Burton line (lead poisoning)

question

Bone pain, bone enlargement, arthritis

answer

Paget disease of bone (osteoblastic and osteoclastic activity)

question

Bounding pulses, diastolic heart murmur, head bobbing

answer

Aortic regurgitation

question

"Butterfly" facial rash and Raynaud phenomenon in a young female

answer

Systemic lupus erythematosus

question

Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

answer

Neurofibromatosis type I

question

Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

answer

McCune-Albright syndrome (mosaic G-protein signaling mutation)

question

Calf pseudohypertrophy

answer

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

question

Child with cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue

answer

Kawasaki disease (treat with IVIG and aspirin)

question

"Cherry-red spots" on macula

answer

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

question

Chest pain on exertion

answer

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

question

Chest pain, pericardial effusion/friction rub, persistent fever following MI

answer

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode

question

Chest pain with ST depressions on EKG

answer

Unstable angina (troponins −) or NSTEMI (troponins +)

question

Child uses arms to stand up from squat

answer

Gowers sign (Duchenne muscular dystrophy)

question

Child with fever later develops red rash on face that spreads to body

answer

"Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)

question

Chorea, dementia, caudate degeneration

answer

Huntington disease (autosomal dominant CAG repeat expansion)

question

Chorioretinitis, hydrocephalus, intracranial calcifications

answer

Congenital toxoplasmosis

question

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

answer

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

question

Cold intolerance

answer

Hypothyroidism

question

Conjugate horizontal gaze palsy, horizontal diplopia

answer

Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)

question

Continuous "machine-like" heart murmur

answer

PDA (close with indomethacin; open or maintain with PGE analogs)

question

Cutaneous/dermal edema due to connective tissue deposition

answer

Myxedema (caused by hypothyroidism, Graves disease [pretibial])

question

Cutaneous flushing, diarrhea, bronchospasm

answer

Carcinoid syndrome (right-sided cardiac valvular lesions, 5-HIAA)

question

Dark purple skin/mouth nodules in a patient with AIDS

answer

Kaposi sarcoma, associated with HHV-8

question

Deep, labored breathing/hyperventilation

answer

Kussmaul respirations (diabetic ketoacidosis)

question

Dermatitis, dementia, diarrhea

answer

Pellagra (niacin [vitamin B3] deficiency)

question

Dilated cardiomyopathy, edema, alcoholism or malnutrition

answer

Wet beriberi (thiamine [vitamin B1] deficiency)

question

Dog or cat bite resulting in infection

answer

Pasteurella multocida (cellulitis at inoculation site)

question

Dry eyes, dry mouth, arthritis

answer

Sjögren syndrome (autoimmune destruction of exocrine glands)

question

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

answer

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

question

Elastic skin, hypermobility of joints, bleeding tendency

answer

Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

question

Enlarged, hard left supraclavicular node

answer

Virchow node (abdominal metastasis)

question

Episodic vertigo, tinnitus, hearing loss

answer

Meniere disease

question

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

answer

Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)

question

Facial muscle spasm upon tapping

answer

Chvostek sign (hypocalcemia)

question

Fat, female, forty, and fertile

answer

Cholelithiasis (gallstones)

question

Fever, chills, headache, myalgia following antibiotic treatment of syphilis

answer

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)

question

Fever, cough, conjunctivitis, coryza, diffuse rash

answer

Measles

question

Fever, night sweats, weight loss

answer

B symptoms (staging) of lymphoma

question

Fibrous plaques in soft tissue of penis with abnormal curvature

answer

Peyronie disease (connective tissue disorder)

question

Golden brown rings around peripheral cornea

answer

Kayser-Fleischer rings (copper accumulation from Wilson disease)

question

Gout, intellectual disability, self-mutilating behavior in a boy

answer

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

question

Hamartomatous GI polyps, hyperpigmentation of Peutz-mouth/feet/hands/genitalia

answer

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction;cancer risk, mainly GI)

question

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises

answer

Gaucher disease (glucocerebrosidase deficiency)

question

Hereditary nephritis, sensorineural hearing loss, cataracts

answer

Alport syndrome (mutation in collagen IV)

question

Hyperphagia, hypersexuality, hyperorality, hyperdocility

answer

Klüver-Bucy syndrome (bilateral amygdala lesion)

question

Hyperreflexia, hypertonia, Babinski sign present

answer

UMN damage

question

Hyporeflexia, hypotonia, atrophy, fasciculations

answer

LMN damage

question

Hypoxemia, polycythemia, hypercapnia

answer

"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)

question

Indurated, ulcerated genital lesion

answer

Nonpainful: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)

question

Infant with "cherry-red" spot on macula, hepatosplenomegaly, and neurodegeneration

answer

Niemann-Pick disease (genetic sphingomyelinase deficiency)

question

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

answer

Patau syndrome (trisomy 13)

question

Infant with hypoglycemia, hepatomegaly

answer

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)

question

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

answer

Edwards syndrome (trisomy 18)

question

Jaundice, palpable distended non-tender gallbladder

answer

Courvoisier sign (distal obstruction of biliary tree)

question

Large rash with bull's-eye appearance

answer

Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

question

Lucid interval after traumatic brain injury

answer

Epidural hematoma (middle meningeal artery rupture)

question

Male child, recurrent infections, no mature B cells

answer

Bruton disease (X-linked agammaglobulinemia)

question

Mucosal bleeding and prolonged bleeding time

answer

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

question

Muffled heart sounds, distended neck veins, hypotension

answer

Beck triad of cardiac tamponade

question

Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth

answer

Gardner syndrome (subtype of FAP)

question

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

answer

Pompe disease (lysosomal α-1,4-glucosidase deficiency)

question

Neonate with arm paralysis following difficult birth

answer

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")

question

No lactation postpartum, absent menstruation, cold intolerance

answer

Sheehan syndrome (pituitary infarction)

question

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

answer

Multiple sclerosis

question

Painful blue fingers/toes, hemolytic anemia

answer

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL) [IgM]

question

Painful fingers/toes changing color from blue to white to red with cold or stress

answer

Raynaud phenomenon (vasospasm in extremities)

question

Painful, raised red lesions on pads of fingers/toes

answer

Osler nodes (infective endocarditis, immune complex deposition)

question

Painless erythematous lesions on palms and soles

answer

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

question

Painless jaundice

answer

Cancer of the pancreatic head obstructing bile duct

question

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

answer

Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)

question

Pancreatic, pituitary, parathyroid tumors

answer

MEN 1 (autosomal dominant)

question

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

answer

Nephrotic syndrome

question

Pink complexion, dyspnea, hyperventilation

answer

"Pink puffer" (emphysema: centriacinar [smoking], panacinar [α1-antitrypsin deficiency])

question

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

answer

Fanconi syndrome (multiple combined dysfunction of the PCT)

question

Pruritic, purple, polygonal planar papules and plaques (6 P's)

answer

Lichen planus

question

Ptosis, miosis, anhidrosis

answer

Horner syndrome (sympathetic chain lesion)

question

Pupil accommodates but doesn't react

answer

Argyll Robertson pupil (neurosyphilis)

question

Rapidly progressive limb weakness that ascends following GI/ upper respiratory infection

answer

Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

question

Rash on palms and soles

answer

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

question

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

answer

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

question

Red "currant jelly" sputum in alcoholic or diabetic patients

answer

Klebsiella pneumoniae pneumonia

question

Red "currant jelly" stools

answer

Acute mesenteric ischemia (adults), intussusception (children)

question

Red, itchy, swollen rash of nipple/areola

answer

Paget disease of the breast (sign of underlying neoplasm)

question

Red urine in the morning, fragile RBCs

answer

Paroxysmal nocturnal hemoglobinuria

question

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

answer

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

question

Resting tremor, rigidity, akinesia, postural instability, shuffling gait

answer

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

question

Retinal hemorrhages with pale centers

answer

Roth spots (bacterial endocarditis)

question

Severe jaundice in neonate

answer

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

question

Severe RLQ pain with palpation of LLQ

answer

Rovsing sign (acute appendicitis)

question

Severe RLQ pain with rebound tenderness

answer

McBurney sign (acute appendicitis)

question

Short stature, café au lait spots, thumb/radial defects, incidence of tumors/leukemia, aplastic anemia

answer

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

question

Single palmar crease

answer

Down syndrome

question

Situs inversus, chronic sinusitis, bronchiectasis, infertility

answer

Kartagener syndrome (dynein arm defect affecting cilia)

question

Skin hyperpigmentation, hypotension, fatigue

answer

1° adrenocortical insufficiency (e.g., Addison disease) causes increased ACTH and α-MSH production)

question

Slow, progressive muscle weakness in boys

answer

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

question

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

answer

Koplik spots (measles; rubeola virus)

question

Smooth, moist, painless, wart-like white lesions on genitals

answer

Condylomata lata (2° syphilis)

question

Splinter hemorrhages in fingernails

answer

Bacterial endocarditis

question

"Strawberry tongue"

answer

Scarlet fever, Kawasaki disease

question

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

answer

Turner syndrome (45,XO)

question

Sudden swollen/painful big toe joint, tophi

answer

Gout/podagra (hyperuricemia)

question

Swollen gums, mucosal bleeding, poor wound healing, petechiae

answer

Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)

question

Swollen, hard, painful finger joints

answer

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

question

Systolic ejection murmur (crescendo-decrescendo)

answer

Aortic stenosis

question

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

answer

Osler-Weber-Rendu syndrome

question

Thyroid and parathyroid tumors, pheochromocytoma

answer

MEN2A (autosomal dominant RET mutation)

question

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

answer

MEN2B (autosomal dominant RET mutation)

question

Toe extension/fanning upon plantar scrape

answer

Babinski sign (UMN lesion)

question

Unilateral facial drooping involving forehead

answer

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

question

Urethritis, conjunctivitis, arthritis in a male

answer

Reactive arthritis associated with HLA-B27

question

Vascular birthmark (port-wine stain) of the face

answer

Nevus flammeus (benign, but associated with Sturge-Weber syndrome)

question

Vomiting blood following gastroesophageal lacerations

answer

Mallory-Weiss syndrome (alcoholic and bulimic patients)

question

Weight loss, diarrhea, arthritis, fever, adenopathy

answer

Whipple disease (Tropheryma whipplei)

question

"Worst headache of my life"

answer

Subarachnoid hemorrhage

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