First Aid 2023 Classic Presentations with Complete Solutions

Abdominal pain, ascites, hepatosplenomegaly - ANSWER-Budd-Chiari Syndrome (posthepatic venous thrombosis) Achilles tendon xanthoma - ANSWER-Familial hypercholesterolemia Adrenal hemorrhage, hypotension, DIC - ANSWER-Waterhouse-Friderichsen Syndrome (meningococcemia) Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints - ANSWER-Marfan's Syndrome (fibrillin defect) Back Pain, fever, night sweats, weight loss - ANSWER-Pott's Disease (vertebral tuberculosis) Big toe extension/fanning upon plantar scrape - ANSWER-Babinski's Sign (UMN lesion) Bilateral hilar adenopathy, uveitis - ANSWER-Sarcoidosis (noncaseating granulomas) Blue sclera - ANSWER-Osteogenesis Imperfecta (collagen defect) Bluish line on gingiva - ANSWER-Burton's line (lead poisoning) Bone pain, bone enlargement, arthritis - ANSWER-Paget's Disease of bone (increased osteoblast and osteoclast activity) Café-au-lait spots, Lisch nodules (iris hamartoma) - ANSWER-Neurofibromatosis type I Café-au-lait spots, Lisch nodules (iris hamartoma), + bilateral acoustic neuromas - ANSWER-Neurofibromatosis type II Calf pseudohypertrophy - ANSWER-Duchene's Muscular Dystrophy "Cherry-red spot" on macula - ANSWER-Tay-Sachs (ganglioside accumulation), Niemann-Pick (lysosomal storage disease) Chest pain, pericardial effusion/friction rub, persistent fever following MI - ANSWER-Dressler's Syndrome (autoimmune-mediated post-MI fibrinous pericarditis) Child with fever develops red rash on face that spreads to body - ANSWER-"Slapped Cheeks" (erythema infectiosum/fifth disease: parvovirus B19) Chorea, dementia, caudate degeneration - ANSWER-Huntington's disease (autosomal-dominant CAG repeat expansion) Chronic exercise intolerance with myalgia, fatigue, painful cramps - ANSWER-McArdle's disease (muscle phosphorylase deficiency) Cold intolerance - ANSWER-Hypothyroidism Continuous "machinery" murmur - ANSWER-PDA (close with indomethacin; open with misoprostol) Cutaneous/dermal edema due to connective tissue deposition - ANSWER-Myxedema (hypothyroidism, Graves' Disease) Dark purple skin/ mouth nodules - ANSWER-Kaposi's Sarcoma (usually in AIDS patients [gay men]: associated with HHV-8) Deep labored breathing/hyperventilation - ANSWER-Kussmaul breathing (DKA) Dermatitis, dementia, diarrhea - ANSWER-Pellagra (niacin [vitamin B3] deficiency) Dilated cardiomyopathy, edema, polyneuropathy - ANSWER-Wet beriberi (thiamine [vitamin B1] deficiency) Dog or cat bite resulting in infection - ANSWER-Pasteurella multocida Dry eyes, dry mouth, arthritis - ANSWER-Sjogren's syndrome (autoimmune destruction of exocrine glands) Dysphagia (esophageal webs), glossitis, iron deficiency anemia - ANSWER-Plummer-Vinson Syndrome (may progress to esophageal squamous cell carcinoma) Elastic skin, hypermobility of joints - ANSWER-Ehlers-Danlos syndrome (collagen defect) Enlarged, hard left supraclavicular node - ANSWER-Virchow's node (abdominal metastasis) Facial muscle spasm upon tapping - ANSWER-Chvostek's sign (hypocalcemia) Fat, female, forty, and fertile - ANSWER-Acute cholecystitis (bile duct blockage) Fever, chills, headache, myalgia following antibiotic treatment for syphilis - ANSWER-Jarisch-Herxhimer reaction (rapid lysis of spirochetes results in toxin release) Fever, cough, conjunctivitis, coryza, diffuse rash - ANSWER-Measles (Morbillivirus) Fever, night sweats, weight loss - ANSWER-B symptoms (lymphoma) Fibrous plaques in soft tissue of penis - ANSWER-Peyronie's disease (connective tissue disorder) Gout, mental retardation, self-mutilating behavior in a boy - ANSWER-Lesch-Nyhan syndrome (HGPRT deficiency) Green-yellow rings around peripheral cornea - ANSWER-Kayser-Fleischer rings (copper accumulation from Wilson's disease) Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands - ANSWER-Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk) Hepatosplenomegaly, osteoporosis, neurologic symptoms - ANSWER-Gaucher's Disease (glucocerebrosidase deficiency) Hereditary nephritis, sensorineural hearing loss, cataracts - ANSWER-Alport's syndrome (collagen mutation) Hyperphagia, hypersexuality, hyperorality, hyperdocility - ANSWER-Kluver-Bucy syndrome (bilateral amygdala lesion) Hypertension, hypokalemia, metabolic acidosis - ANSWER-Conn's syndrome (primary hyperaldosteronism) Hypoxemia, polycythemia, hypercapnia - ANSWER-"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells) Indurated, ulcerated genital lesion (nonpainful) - ANSWER-Chancre (primary syphilis: Treponema pallidum) Infant with failure to thrive, hepatosplenomegaly, neurodegeneration - ANSWER-Neimann-Pick disease (genetic sphingomyelinase deficiency) Infant with hypoglycemia, failure to thrive, hepatomegaly - ANSWER-Cori's Disease (debranching enzyme deficiency) Infant with microcephaly, rocker-bottom feet, structural heart defect - ANSWER-Edward's Syndrome (trisomy 18) Jaundice, RUQ pain, fever - ANSWER-Charcot's triad (ascending cholangitis) Keratin pearls on a skin lesion - ANSWER-Squamous cell carcinoma Large rash with bull's-eye appearance - ANSWER-Erythema chronicum migrans from tick bite (Lyme disease: Borrelia) Male child, recurrent infections, no mature B cells - ANSWER-Bruton's disease (X-linked agammaglobulinemia) Mucosal bleeding and prolonged bleeding time - ANSWER-Glanzmann's Thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa) Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumary teeth - ANSWER-Gardner's Syndrome (genetic disorder, predisposes to colon cancer) Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis. - ANSWER-Wegener's and Goodpasture's syndromes (hemoptysis and glomerular disease) Neonate with arm paralysis following difficult birth - ANSWER-Erb-Duchenne Palsy (superior trunk [C5-6] brachial plexus injury: "waiter's tip") No lactation postpartum, absent menstruation, cold intolerance - ANSWER-Sheehan's syndrome (pituitary infarction) Nystagmus, intention tremor, scanning speech - ANSWER-Charcot's triad (MS) Oscillating slow/fast breathing - ANSWER-Cheyne-Stokes respirations (central apnea in CHF or increased ICP) Painful blue fingers/toes, hemolytic anemia - ANSWER-Cold agglutinin disease (IgM) (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae or infectious mononucleosis) Painful, pale, cold fingers/toes - ANSWER-Raynaud's syndrome (vasospasm in extremity) Painful, raised red lesions on palms and soles - ANSWER-Osler's nodes (infective endocarditis) Painless jaundice - ANSWER-Cancer of the pancreatic head obstructing bile duct Palpable purpura, joint pain, abdominal pain (child) - ANSWER-Henoch-Schlonlein purpura (IgA vasculitis affecting skin and kidneys) Pancreatic, pituitary, parathyroid tumors - ANSWER-Wermer's Syndrome (MEN 1) Pink complexion, dyspnea, hyperventilation - ANSWER-"Pink puffer" (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency])