question

Abdominal pain, ascites, 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 (↓LDL receptor signaling)

question

Adrenal hemorrhage, hypotension, DIC.

answer

Waterhouse-Friderichsen syndrome (meningococcemia)

question

Anaphalaxis following drug transfusion.

answer

IgA Deficiency

question

Anterior "drawer sign" (+).

answer

Anterior Cruciate Ligament (ACL) injury

question

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints.

answer

Marfan syndrome (fibrillin defect)

question

Athlete with polycythemia.

answer

Exogenous erythropoietin (EPO) injection

question

Back pain, fever, night sweats, weight loss.

answer

Pott disease (vertebral TB)

question

Bilateral acoustic schwannomas.

answer

Neurofibromatosis Type 2 (NF2)

question

Bilateral hilar adenopathy, uveitis.

answer

Sarcoidosis (noncaseating granulomas)

question

Black eschar on face of patient with DKA.

answer

Mucor or Rhizopus fungal infection

question

Blue sclera.

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 (SLE)

question

Café-au-lait spots, Lisch nodules (iris hamartoma), Cutaneous tumors, Pheochromocytomas, Optic glioma, Freckling in the axillary (Crowe sign) or inguinal regions.

answer

Neurofibromatosis type I (NF1)

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): X-linked recessive deletion of dystrophin gene

question

Cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjunctivae and red tongue.

answer

Kawasaki Disease (Tx: IVIG and Aspirin)

question

"Cherry-red spots" on macula.

answer

Tay-Sachs (ganglioside accumulation) Niemann-Pick (sphingomyelin accumulation, paired with hepatosplenomegaly and neurodegeneration), central retinal artery occlusion

question

Chest pain on exertion.

answer

Angina -stable: with moderate exertion -unstable: with minimal exertion

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 w/ ST depressions on EKG.

answer

Unstable angina if (-)troponin NSTEMI if (+)troponin

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 (posterior uveitis), hydrocephalus, intracranial calcifications. [Infant]

answer

Congenital toxoplasmosis

question

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

answer

McArdle disease (muscle glycogen phosphorylase deficiency)

question

Cold intolerance.

answer

Hypothyroidism

question

Conjugate lateral gaze palsy (ipsi eye can't look contra), horizontal diplopia. [Bilateral or unilateral]

answer

Internuclear ophthalmoplegia (damage to MLF) -bilateral [multiple sclerosis], -unilateral [stroke]

question

Continuous "machine-like" heart murmur.

answer

Patent ductus arteriosus (PDA) [close with indomethacin; open or maintain with misoprostol or other PGE analogs]

question

Cutaneous/dermal edema due to connective tissue deposition.

answer

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

question

Cutaneous flushing, diarrhea, bronchospasm, right sided heart lesions.

answer

Carcinoid syndrome [↑5-HIAA, metabolite of serotonin --> think enterochromaffin (Kultschitzsky) cells of the small intestine]

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 (beefy red tongue), 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, or -type III collagen defect seen in vascular subtype

question

Enlarged, hard left supraclavicular node.

answer

Virchow node [Troisier's sign] --> metastatic abdominal/GI cancer

question

Episodic Vertigo, tinnitus, hearing loss.

answer

Meniere Disease

question

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells.

answer

-Mycosis fungoides (a cutaneous T-cell lymphoma = a type of non-Hodgkin's lymphoma not a fungal disease) -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 for syphilis.

answer

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

question

Fever, cough, conjunctivitis, coryza (stuffy nose), diffuse rash.

answer

Measles (rubeola)

question

Fever, night sweats, weight loss.

answer

B symptoms (systemic) of lymphoma -A = absence of systemic symptoms, -B = presence of symptoms (Ann Arbor staging of lymphoma)

question

Fibrous plaques in soft tissue of the penis.

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 mouth/feet/hands.

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) [a lysosomal storage disease]

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 and 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

Oscillating slow/fast breathing. Disease/Dx?

answer

Cheyne-Stokes respirations (central apnea in CHF or inc intracranial pressure)

question

Painful blue fingers/toes, hemolytic anemia.

answer

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

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 pad 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. Disease/Dx?

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 (proximal tubular reabsorption defect)

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 polyneuropathy subtype)

question

Rash on palms and soles.

answer

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

question

Recurrent cold (noninflamer) abcesses, 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

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. Disease/Dx?

answer

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

question

Resting tremor, rigidity, akinesia, postural instability.

answer

Parkinson disease (loss of dopaminergic neurons in the 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, cafe-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 (trisomy 21)

question

Situs inversus, chronic sinusitis, bronchiectasis, infertility.

answer

Kartagener syndrome (dynein arm defect affecting cilia)

question

Skin hyperpigmentation, hypotension, fatigue.

answer

1° adrenocortical insufficiency (eg. Addison dz) causes ↑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, flat, 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 valve stenosis

question

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

answer

Osler-Weber-Rendu Syndrome (inherited disorder of blood vessels aka Hereditary Hemorrhagic Telangiectasia)

question

Thyroid and parathyroid tumors, pheochromocytoma.

answer

MEN 2A (autosomal dominant RET mutation)

question

Thyroid tumors, pheochromocytoma, ganglioneuromatosis.

answer

MEN 2B (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) on 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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