First Aid Rapid Review 2015–Classic Presentations

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Abdominal pain, ascites, hepatomegaly.
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Budd-Chiari syndrome (posthepatic venous thrombosis)
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Abdominal pain, diarrhea, leukocytosis, recent antibiotic use.
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Clostridium difficile infection
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Achilles tendon xanthoma.
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Familial hypercholesterolemia (↓LDL receptor signaling)
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Adrenal hemorrhage, hypotension, DIC.
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Waterhouse-Friderichsen syndrome (meningococcemia)
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Anaphalaxis following drug transfusion.
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IgA Deficiency
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Anterior “drawer sign” (+).
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Anterior Cruciate Ligament (ACL) injury
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Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints.
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Marfan syndrome (fibrillin defect)
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Athlete with polycythemia.
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Exogenous erythropoietin (EPO) injection
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Back pain, fever, night sweats, weight loss.
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Pott disease (vertebral TB)
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Bilateral acoustic schwannomas.
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Neurofibromatosis Type 2 (NF2)
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Bilateral hilar adenopathy, uveitis.
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Sarcoidosis (noncaseating granulomas)
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Black eschar on face of patient with DKA.
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Mucor or Rhizopus fungal infection
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Blue sclera.
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Osteogenesis imperfecta (type I collagen defect)
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Bluish line on gingiva.
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Burton line (lead poisoning)
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Bone pain, bone enlargement, arthritis.
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Paget disease of bone (↑osteoblastic and osteoclastic activity)
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Bounding pulses, diastolic heart murmur, head bobbing.
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Aortic regurgitation
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“Butterfly” facial rash and Raynaud phenomenon in a young female.
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Systemic Lupus Erythematosus (SLE)
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Café-au-lait spots, Lisch nodules (iris hamartoma), Cutaneous tumors, Pheochromocytomas, Optic glioma, Freckling in the axillary (Crowe sign) or inguinal regions.
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Neurofibromatosis type I (NF1)
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Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities.
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McCune-Albright syndrome (mosaic G-protein signaling mutation)
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Calf pseudohypertrophy.
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Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
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Cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjunctivae and red tongue.
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Kawasaki Disease (Tx: IVIG and Aspirin)
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“Cherry-red spots” on macula.
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Tay-Sachs (ganglioside accumulation) Niemann-Pick (sphingomyelin accumulation, paired with hepatosplenomegaly and neurodegeneration), central retinal artery occlusion
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Chest pain on exertion.
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Angina -stable: with moderate exertion -unstable: with minimal exertion
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Chest pain, pericardial effusion/friction rub, persistent fever following MI.
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Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)
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Chest pain w/ ST depressions on EKG.
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Unstable angina if (-)troponin NSTEMI if (+)troponin
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Child uses arms to stand up from squat.
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Gowers sign (Duchenne muscular dystrophy)
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Child with fever later develops red rash on face that spreads to body.
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“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)
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Chorea, dementia, caudate degeneration.
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Huntington disease (autosomal dominant CAG repeat expansion)
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Chorioretinitis (posterior uveitis), hydrocephalus, intracranial calcifications. [Infant]
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Congenital toxoplasmosis
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Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria.
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McArdle disease (muscle glycogen phosphorylase deficiency)
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Cold intolerance.
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Hypothyroidism
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Conjugate lateral gaze palsy (ipsi eye can’t look contra), horizontal diplopia. [Bilateral or unilateral]
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Internuclear ophthalmoplegia (damage to MLF) -bilateral [multiple sclerosis], -unilateral [stroke]
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Continuous “machine-like” heart murmur.
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Patent ductus arteriosus (PDA) [close with indomethacin; open or maintain with misoprostol or other PGE analogs]
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Cutaneous/dermal edema due to connective tissue deposition.
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Myxedema (caused by hypothyroidism or Graves disease [pretibial])
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Cutaneous flushing, diarrhea, bronchospasm, right sided heart lesions.
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Carcinoid syndrome [↑5-HIAA, metabolite of serotonin –> think enterochromaffin (Kultschitzsky) cells of the small intestine]
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Dark purple skin/mouth nodules in a patient with AIDS.
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Kaposi sarcoma, associated with HHV-8
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Deep, labored breathing/hyperventilation.
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Kussmaul respirations (diabetic ketoacidosis)
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Dermatitis, dementia, diarrhea.
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Pellagra (niacin [vitamin B3] deficiency)
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Dilated cardiomyopathy, edema, alcoholism or malnutrition.
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Wet beriberi (thiamine [vitamin B1] deficiency)
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Dog or cat bite resulting in infection.
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Pasteurella multocida (cellulitis at inoculation site)
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Dry eyes, dry mouth, arthritis.
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Sjögren syndrome (autoimmune destruction of exocrine glands)
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Dysphagia (esophageal webs), glossitis (beefy red tongue), iron deficiency anemia.
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Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
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Elastic skin, hypermobility of joints, ↑bleeding tendency
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Ehlers-Danlos syndrome -type V collagen defect, or -type III collagen defect seen in vascular subtype
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Enlarged, hard left supraclavicular node.
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Virchow node [Troisier’s sign] –> metastatic abdominal/GI cancer
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Episodic Vertigo, tinnitus, hearing loss.
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Meniere Disease
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Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells.
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-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)
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Facial muscle spasm upon tapping.
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Chvostek sign (hypocalcemia)
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Fat, female, forty, and fertile.
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Cholelithiasis (gallstones)
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Fever, chills, headache, myalgia following antibiotic treatment for syphilis.
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Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
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Fever, cough, conjunctivitis, coryza (stuffy nose), diffuse rash.
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Measles (rubeola)
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Fever, night sweats, weight loss.
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B symptoms (systemic) of lymphoma -A = absence of systemic symptoms, -B = presence of symptoms (Ann Arbor staging of lymphoma)
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Fibrous plaques in soft tissue of the penis.
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Peyronie disease (connective tissue disorder)
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Golden brown rings around peripheral cornea
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Kayser Fleischer rings (copper accumulation from Wilson disease)
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Gout, intellectual disability, self-mutilating behavior in a boy.
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Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
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Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands.
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Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; ↑cancer risk, mainly GI)
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Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
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Gaucher disease (glucocerebrosidase deficiency) [a lysosomal storage disease]
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Hereditary nephritis, sensorineural hearing loss, cataracts.
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Alport syndrome (mutation in collagen IV)
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Hyperphagia, hypersexuality, hyperorality, hyperdocility.
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Klüver-Bucy syndrome (bilateral amygdala lesion)
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Hyperreflexia, hypertonia, Babinski sign present.
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UMN damage
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Hyporeflexia, hypotonia, atrophy, fasciculations.
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LMN damage
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Hypoxemia, polycythemia, hypercapnia.
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“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)
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Indurated, ulcerated genital lesion.
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-Nonpainful: chancre (1° syphilis, Treponema pallidum) -Painful, with exudate: chancroid (Haemophilus ducreyi)
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Infant with cherry red spot on macula, hepatosplenomegaly, and neurodegeneration
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Niemann-Pick disease (genetic sphingomyelinase deficiency)
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Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia.
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Patau syndrome (trisomy 13)
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Infant with hypoglycemia and hepatomegaly.
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-Cori disease (debranching enzyme deficiency) or -Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
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Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect.
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Edwards syndrome (trisomy 18)
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Jaundice, palpable distended non-tender gallbladder.
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Courvoisier sign (distal obstruction of biliary tree)
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Large rash with bull’s-eye appearance.
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Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
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Lucid interval after traumatic brain injury.
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Epidural hematoma (middle meningeal artery rupture)
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Male child, recurrent infections, no mature B cells.
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Bruton disease (X-linked agammaglobulinemia)
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Mucosal bleeding and prolonged bleeding time.
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Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
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Muffled heart sounds, distended neck veins, hypotension.
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Beck triad of cardiac tamponade
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Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth.
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Gardner syndrome (subtype of FAP)
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Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance.
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Pompe disease (lysosomal α-1,4-glucosidase deficiency)
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Neonate with arm paralysis following difficult birth.
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Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)
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No lactation postpartum, absent menstruation, cold intolerance.
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Sheehan syndrome (pituitary infarction)
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Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia.
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Multiple sclerosis
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Oscillating slow/fast breathing. Disease/Dx?
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Cheyne-Stokes respirations (central apnea in CHF or inc intracranial pressure)
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Painful blue fingers/toes, hemolytic anemia.
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Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
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Painful fingers/toes changing color from blue to white to red with cold or stress.
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Raynaud phenomenon (vasospasm in extremities)
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Painful, raised red lesions on pad of fingers/toes.
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Osler nodes (infective endocarditis, immune complex deposition)
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Painless erythematous lesions on palms and soles.
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Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
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Painless jaundice.
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Cancer of the pancreatic head obstructing bile duct
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Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria.
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Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
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Pancreatic, pituitary, parathyroid tumors.
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MEN 1 (autosomal dominant)
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Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia. Disease/Dx?
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Nephrotic syndrome
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Pink complexion, dyspnea, hyperventilation.
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“Pink puffer” (emphysema: centriacinar [smoking], panacinar [α1-antitrypsin deficiency])
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Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets.
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Fanconi syndrome (proximal tubular reabsorption defect)
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Pruritic, purple, polygonal planar papules and plaques (6 P’s).
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Lichen planus
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Ptosis, miosis, anhidrosis.
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Horner syndrome (sympathetic chain lesion)
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Pupil accommodates but doesn’t react.
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Argyll Robertson pupil (neurosyphilis)
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Rapidly progressive limb weakness that ascends following GI/upper respiratory infection.
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Guillain-Barré syndrome (acute inflammatory demyelinating polyneuropathy subtype)
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Rash on palms and soles.
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Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
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Recurrent cold (noninflamer) abcesses, unusual eczema, high serum IgE.
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Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
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Red “currant jelly” sputum in alcoholic or diabetic patients.
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Klebsiella pneumoniae
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Red “currant jelly” stools.
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Acute mesenteric ischemia (adults), intussusception (children)
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Red, itchy, swollen rash of nipple/areola.
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Paget disease of the breast (sign of underlying neoplasm)
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Red urine in the morning, fragile RBCs.
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Paroxysmal nocturnal hemoglobinuria
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Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma. Disease/Dx?
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von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
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Resting tremor, rigidity, akinesia, postural instability.
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Parkinson disease (loss of dopaminergic neurons in the substantia nigra pars compacta)
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Retinal hemorrhages with pale centers.
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Roth spots (bacterial endocarditis)
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Severe jaundice in neonate.
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Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
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Severe RLQ pain with palpation of LLQ.
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Rovsing sign (acute appendicitis)
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Severe RLQ pain with rebound tenderness.
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McBurney sign (acute appendicitis)
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Short stature, cafe-au-lait spots, thumb/radial defects, ↑ incidence of tumors/leukemia, aplastic anemia.
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Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
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Single palmar crease.
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Down syndrome (trisomy 21)
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Situs inversus, chronic sinusitis, bronchiectasis, infertility.
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Kartagener syndrome (dynein arm defect affecting cilia)
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Skin hyperpigmentation, hypotension, fatigue.
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1° adrenocortical insufficiency (eg. Addison dz) causes ↑ACTH and ↑α-MSH production
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Slow, progressive muscle weakness in boys.
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Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
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Small, irregular red spots on buccal/lingual mucosa with blue-white centers
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Koplik spots (measles; rubeola virus)
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Smooth, flat, moist, painless wart-like white lesions on genitals.
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Condylomata lata (2° syphilis)
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Splinter hemorrhages in fingernails.
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Bacterial endocarditis
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“Strawberry tongue”.
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Scarlet fever, Kawasaki disease
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Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema.
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Turner syndrome (45,XO)
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Sudden swollen/painful big toe joint, tophi.
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Gout/podagra (hyperuricemia)
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Swollen gums, mucosal bleeding, poor wound healing, petechiae.
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Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
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Swollen, hard, painful finger joints.
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Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
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Systolic ejection murmur (crescendo-decrescendo).
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Aortic valve stenosis
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Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeds, hematuria
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Osler-Weber-Rendu Syndrome (inherited disorder of blood vessels aka Hereditary Hemorrhagic Telangiectasia)
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Thyroid and parathyroid tumors, pheochromocytoma.
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MEN 2A (autosomal dominant RET mutation)
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Thyroid tumors, pheochromocytoma, ganglioneuromatosis.
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MEN 2B (autosomal dominant RET mutation)
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Toe extension/fanning upon plantar scrape.
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Babinski sign (UMN lesion)
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Unilateral facial drooping involving forehead.
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LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
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Urethritis, conjunctivitis, arthritis in a male.
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Reactive arthritis associated with HLA-B27
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Vascular birthmark (port-wine stain) on the face.
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Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
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Vomiting blood following gastroesophageal lacerations.
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Mallory-Weiss syndrome (alcoholic and bulimic patients)
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Weight loss, diarrhea, arthritis, fever, adenopathy.
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Whipple disease (Tropheryma whipplei)
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“Worst Headache of my life.”
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Subarachnoid hemorrhage

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