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U01.17.001 Classic Presentations reviews
| CLINICAL PRESENTATION | DISEASE/DIAGNOSIS |
|---|---|
| A | |
| Abdominal pain, ascites, hepatomegaly | Budd-Chiari syndrome (post hepatic thrombosis) |
| Abdominal pain, diarrhea, leukocytosis, recent antibiotic use | Clostridium difficile infection |
| Achilles tendon xanthoma | Familial hypercholesterolemia (? LDL receptor signaling) |
| Adrenal hemorrhage, hypotension, DIC | Waterhouse-Friderichsen syndrome (meningococcemia) |
| Anaphylaxis following blood transfusion | IgA deficiency |
| Anterior “drawer sign” ⊕ | Anterior cruciate ligament injury |
| Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints | Marfan syndrome (fibrillin defect) |
| Athlete with polycythemia | 2° to erythropoietin injection |
| B | |
| Back pain, fever, night sweats | Pott disease (vertebral TB) |
| Bilateral acoustic schwannomas | Neurofibromatosis type 2 |
| Bilateral hilar adenopathy, uveitis | Sarcoidosis (noncaseating granulomas) |
| Black eschar on the face of a patient with diabetic ketoacidosis | Mucor or Rhizopus fungal infection |
| Blue sclera | Osteogenesis imperfecta (type I collagen defect) |
| The bluish line on the gingiva | Burton line (lead poisoning) |
| Bone pain, bone enlargement, arthritis | Paget disease of bone (? osteoblastic and osteoclastic activity) |
| Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing | Aortic regurgitation |
| “Butterfly” facial rash and Raynaud phenomenon in a young female | Systemic lupus erythematosus |
| C | |
| Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas | Neurofibromatosis type I |
| Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities | McCune-Albright syndrome (mosaic G-protein signaling mutation) |
| Calf pseudohypertrophy | Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of the dystrophin gene) |
| Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctiva, and tongue, hand-foot changes | Kawasaki disease (treat with IVIG and aspirin) |
| “Cherry-red spots” on the macula | Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion |
| Chest pain on exertion | Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest) |
| Chest pain, pericardial effusion/friction rub, persistent fever following MI | Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode) |
| Chest pain with ST depressions on EKG | Unstable angina (⊝ troponins) or NSTEMI (⊕ troponins) 293 |
| The child uses arms to stand up from the squat | The child uses arms to stand up from the squat |
| Child with fever later develops red rash on face that spreads to body | Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19) |
| Chorea, dementia, caudate degeneration | Huntington disease (autosomal dominant CAG repeat expansion) |
| Chorioretinitis, hydrocephalus, intracranial calcifications | Congenital toxoplasmosis |
| Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria | McArdle disease (skeletal muscle glycogen phosphorylase deficiency) |
| Cold intolerance | Hypothyroidism |
| Conjugate horizontal gaze palsy, horizontal diplopia | Internuclear ophthalmoplegia (damage to MLF; maybe unilateral or bilateral) |
| Continuous “machine-like” heart murmur | PDA (close with indomethacin; keep open with PGE analogs) |
| Cutaneous/dermal edema due to connective tissue deposition | Myxedema (caused by hypothyroidism, Graves disease [pretibial]) |
| Cutaneous flushing, diarrhea, bronchospasm | Carcinoid syndrome (right-sided cardiac valvular lesions, ? 5-HIAA) |
| D | |
| Dark purple skin/mouth nodules in a patient with AIDS | Kaposi sarcoma, associated with HHV-8 |
| Deep, labored breathing/hyperventilation | Diabetic ketoacidosis (Kussmaul respirations) |
| Dermatitis, dementia, diarrhea | Pellagra (niacin [vitamin B3] deficiency) |
| Dilated cardiomyopathy, edema, alcoholism, or malnutrition | Wet beriberi (thiamine [vitamin B1] deficiency) |
| Dog or cat bite resulting in infection | Pasteurella multocida (cellulitis at inoculation site) |
| Dry eyes, dry mouth, arthritis | Sjögren syndrome (autoimmune destruction of exocrine glands) |
| Dysphagia (esophageal webs), glossitis, iron deficiency anemia | Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) |
| E | |
| Elastic skin, hypermobility of joints, ? bleeding tendency | Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect is seen in a vascular subtype of ED) |
| Enlarged, hard-left supraclavicular node | Virchow node (abdominal metastasis) |
| Episodic vertigo, tinnitus, hearing loss | Meniere disease |
| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells | Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in the blood) |
| F | |
| Facial muscle spasm upon tapping | Chvostek sign (hypocalcemia) |
| Fat, female, forty, and fertile | Cholelithiasis (gallstones) |
| Fever, chills, headache, myalgia following antibiotic treatment for syphilis | Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release) |
| Fever, cough, conjunctivitis, coryza, diffuse rash | Measles |
| Fever, night sweats, weight loss | B symptoms of lymphoma |
| Fibrous plaques in the soft tissue of the penis with abnormal curvature | Peyronie disease (connective tissue disorder) |
| G | |
| Golden brown rings around the peripheral cornea | Wilson disease (Kayser-Fleischer rings due to copper accumulation) |
| Gout, intellectual disability, self-mutilating behavior in a boy | Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive) |
| Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia | Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; ? cancer risk, mainly GI) |
| Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises | Gaucher disease (glucocerebrosidase deficiency) |
| Hereditary nephritis, sensorineural hearing loss, cataracts | Alport syndrome (mutation in collagen IV) |
| Hyperphagia, hypersexuality, hyperorality, hyperdocility | Klüver-Bucy syndrome (bilateral amygdala lesion) |
| Hyperreflexia, hypertonia, Babinski sign present | UMN damage |
| Hyporeflexia, hypotonia, atrophy, fasciculations | LMN damage |
| Hypoxemia, polycythemia, hypercapnia | Chronic bronchitis (hyperplasia of mucous cells, “blue bloater”) |
| I | |
| Indurated, ulcerated genital lesion | Nonpainful: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi) |
| An infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia | Patau syndrome (trisomy 13) |
| An infant with hypoglycemia, hepatomegaly | Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe) |
| An infant with microcephaly, rocker-bottom feet, clenched hands, and a structural heart defect | Edwards syndrome (trisomy 18) |
| J | |
| Jaundice, palpable distended non-tender gallbladder | Courvoisier sign (distal malignant obstruction of biliary tree) |
| L | |
| Large rash with bull’s-eye appearance | Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia) |
| Lucid interval after traumatic brain injury | Epidural hematoma (middle meningeal artery rupture) |
| M | |
| Male child, recurrent infections, no mature B cells | Bruton disease (X-linked agammaglobulinemia |
| Mucosal bleeding and prolonged bleeding time | Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa) |
| Muffled heart sounds, distended neck veins, hypotension | Beck triad of cardiac tamponade |
| Multiple colon polyps, osteomas/soft tissue tumors, impacted/sup\ernumerary teeth | Gardner syndrome (a subtype of FAP) |
| Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance | Pompe disease (lysosomal α-1,4-glucosidase deficiency) |
| Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance | Pompe disease (lysosomal α-1,4-glucosidase deficiency) |
| N | |
| Neonate with arm paralysis following a difficult birth | Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury: “waiter’s tip”) |
| O | |
| P | |
| No lactation postpartum, absent menstruation, cold intolerance | Sheehan syndrome (pituitary infarction) |
| Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia | Multiple sclerosis |
| Painful blue fingers/toes, hemolytic anemia | Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL) |
| Painful fingers/toes changing color from white to blue to red with cold or stress | Raynaud phenomenon (vasospasm in extremities) |
| Painful, raised red lesions on pads of fingers/toes | Osler nodes (infective endocarditis, immune complex deposition) |
| Painless erythematous lesions on palms and soles | Janeway lesions (infective endocarditis, septic emboli/ microabscesses) |
| Painless jaundice | Cancer of the pancreatic head obstructing bile duct |
| Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria | Henoch-Schönlein purpura (IgA vasculitis affecting the skin and kidneys) |
| Pancreatic, pituitary, parathyroid tumors | MEN 1 (autosomal dominant) |
| Periorbital and/or peripheral edema, proteinuria (> 3.5g/ day), hypoalbuminemia, hypercholesterolemia | Nephrotic syndrome |
| The pink complexion, dyspnea, hyperventilation | Emphysema (“pink puffer,” centriacinar [smoking] or panacinar [α1-antitrypsin deficiency]) |
| Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets | Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule) |
| Ptosis, miosis, anhidrosis | Horner syndrome (sympathetic chain lesion) |
| The pupil accommodates but doesn’t react | Neurosyphilis (Argyll Robertson pupil) |
| Q | |
| Rapidly progressive limb weakness that ascends following GI/upper respiratory infection | Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype) |
| R | |
| Rash on palms and soles | Coxsackie A, 2° syphilis, Rocky Mountain spotted fever |
| Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE | Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality) |
| Red “currant jelly” sputum in alcoholic or diabetic patients | Klebsiella pneumoniae pneumonia |
| Red “currant jelly” stools | Acute mesenteric ischemia (adults), intussusception (children) |
| Red, itchy, swollen rash of nipple/areola | Paget disease of the breast (a sign of underlying neoplasm) |
| Red urine in the morning, fragile RBCs | Paroxysmal nocturnal hemoglobinuria |
| Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma | von Hippel-Lindau disease (dominant tumor suppressor gene mutation) |
| Resting tremor, rigidity, akinesia, postural instability, shuffling gait | Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta |
| Retinal hemorrhages with pale centers | Roth spots (bacterial endocarditis) |
| S | |
| Severe jaundice in neonate | Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia) |
| Severe RLQ pain with palpation of LLQ | Rovsing sign (acute appendicitis) |
| Short stature, café au lait spots, thumb/radial defects, ? incidence of tumors/leukemia, aplastic anemia | Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML) |
| Single palmar crease | Down syndrome |
| Situs inversus, chronic sinusitis, bronchiectasis, infertility | Kartagener syndrome (dynein arm defect affecting cilia) |
| Skin hyperpigmentation, hypotension, fatigue | 1° adrenocortical insufficiency (eg, Addison disease) causes ? ACTH and ? α-MSH production) |
| Slow, progressive muscle weakness in boys | Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne) |
| Small, irregular red spots on buccal/lingual mucosa with blue-white centers | Koplik spots (measles [rubeola] virus) |
| Smooth, moist, painless, wart-like white lesions on genitals | Condylomata lata (2° syphilis) |
| Smooth, moist, painless, wart-like white lesions on genitals | Condylomata lata (2° syphilis) |
| Splinter hemorrhages in fingernails | Bacterial endocarditis |
| “Strawberry tongue” | Scarlet fever Kawasaki disease |
| Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema | Turner syndrome (45,XO) |
| Sudden swollen/painful big toe joint, tophi | Gout/podagra (hyperuricemia) |
| Swollen gums, mucosal bleeding, poor wound healing, petechiae | Scurvy (vitamin C deficiency: can’t hydroxylate proline/ lysine for collagen synthesis) |
| Swollen, hard, painful finger joints | Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes]) |
| Systolic ejection murmur (crescendo-decrescendo) | Aortic stenosis |
| T | |
| Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria | Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia) |
| Thyroid and parathyroid tumors, pheochromocytoma | MEN 2A (autosomal dominant RET mutation) |
| Thyroid tumors, pheochromocytoma, ganglioneuromatosis | MEN 2B (autosomal dominant RET mutation) |
| Toe extension/fanning upon plantar scrape | Babinski sign (UMN lesion) |
| U | |
| Unilateral facial drooping involving forehead | LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead |
| Urethritis, conjunctivitis, arthritis in a male | Reactive arthritis associated with HLA-B27 |
| V | |
| Vascular birthmark (port-wine stain) of the face | Nevus flammeus (benign, but associated with Sturge- Weber syndrome) |
| Vomiting blood following gastroesophageal lacerations | Mallory-Weiss syndrome (alcoholic and bulimic patients) |
| W | |
| Weight loss, diarrhea, arthritis, fever, adenopathy | Whipple disease (Tropheryma whipplei) |
| “Worst headache of my life” | Subarachnoid hemorrhage |