Rapid Review Classic Presentations Flashcards by Derrick Obeng

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

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

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Osteogenesis imperfecta (type I collagen defect)

Blue sclera, multiple fractures, dental problems, conductive hearing loss

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

Elastic skin, hypermobility of joints, bleeding tendency

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Marfan syndrome (fibrillin defect)

Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints

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Homocystinuria

Arachnodactyly, pectus deformity, lens dislocation (downward)

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Cystic fibrosis (CFTR gene defect, chromosome 7, ∆F508)

Meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility

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

Calf pseudohypertrophy

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Duchenne muscular dystrophy (Gowers sign)

Child uses arms to stand up from squat

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Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne)

Slow, progressive muscle weakness in boys

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Down syndrome

Single palmar crease, intellectual disability

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Wet beriberi (thiamine [vitamin B1] deficiency)

Dilated cardiomyopathy/high-output heart failure, edema, alcoholism or malnutrition

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Vitamin B 5 deficiency

Burning feet syndrome

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Pellagra (niacin [vitamin B3 ] deficiency)

Dermatitis, dementia, diarrhea

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Scurvy (vitamin C deficiency: can’t hydroxylate proline/ lysine for collagen synthesis); tea and toast diet

Swollen gums, mucosal bleeding, poor wound healing, petechiae, corkscrew hairs, perifollicular hemorrhages

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Rickets (children), osteomalacia (adults); vitamin D deficiency

Bowlegs (children), bone pain, and muscle weakness

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Vitamin K deficiency

Hemorrhagic disease of newborn with PT, aPTT

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Phenylketonuria

Intellectual disability, musty body odor, hypopigmented skin, eczema

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Alkaptonuria (homogentisate oxidase deficiency)

Bluish-black connective tissue, ear cartilage, sclerae; urine turns black on prolonged exposure to air

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Tay-Sachs (ganglioside accumulation; no hepatosplenomegaly); Niemann-Pick disease

“Cherry-red spots” on macula

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Familial hypercholesterolemia ( LDL receptor signaling)

Achilles tendon xanthoma

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Scarlet fever (sandpaper rash); Kawasaki disease (lymphadenopathy, high fever for 5 days)

“Strawberry tongue”

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Waterhouse-Friderichsen syndrome (meningococcemia)

Adrenal insufficiency, fever, bilateral adrenal hemorrhage

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Klebsiella pneumoniae pneumonia

Red “currant jelly” sputum in patients with alcohol overuse or diabetes

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Jarisch-Herxheimer reaction (due to host response to sudden release of bacterial antigens)

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

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Congenital toxoplasmosis

Chorioretinitis, hydrocephalus, intracranial calcifications

Hookworm (Ancylostoma spp, Necator americanus)

Pruritus, serpiginous rash after walking barefoot

Measles

Fever, cough, conjunctivitis, coryza, diffuse rash

Koplik spots (measles [rubeola] virus)

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

Aortic regurgitation

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

Aortic stenosis

Systolic ejection murmur (crescendo-decrescendo), narrow pulse pressure, pulsus parvus et tardus

Beck triad of cardiac tamponade

Distant heart sounds, distended neck veins, hypotension

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

Painless erythematous lesions on palms and soles

Infective endocarditis

Splinter hemorrhages in fingernails

Roth spots (infective endocarditis)

Retinal hemorrhages with pale centers

Primary polydipsia, diabetes insipidus (central, nephrogenic)

Polyuria, polydipsia

Hyperthyroidism

Heat intolerance, weight loss, palpitations

Hypothyroidism

Cold intolerance, weight gain, brittle hair

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

Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue

Chvostek sign (hypocalcemia)

Facial muscle spasm upon tapping

Trousseau sign (hypocalcemia)

Carpal spasm upon inflation of BP cuff

Diabetic ketoacidosis (Kussmaul respirations)

Rapid, deep, labored breathing/hyperventilation

Chronic 1° adrenal insufficiency (Addison disease) high ACTH, high MSH

Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances

Acute adrenal insufficiency (adrenal crisis)

Shock, altered mental status, vomiting, abdominal pain, weakness, fatigue in patient under glucocorticoid therapy

MEN1 (autosomal dominant MEN1 mutation)

Pancreatic, pituitary, parathyroid tumors

MEN2A (autosomal dominant RET mutation)

Medullary thyroid carcinoma, parathyroid hyperplasia, pheochromocytoma

Medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas, marfanoid habitus

MEN2B (autosomal dominant RET mutation)

Carcinoid syndrome ( urinary 5-HIAA); indicates systemic dissemination (eg, post liver metastases)

Cutaneous flushing, diarrhea, bronchospasm, heart murmur

Mallory-Weiss syndrome (alcohol use disorder, bulimia nervosa)

Vomiting blood following gastroesophageal lacerations

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

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Virchow node (metastasis from abdominal malignancy)

Enlarged, hard left supraclavicular node

Upper GI bleeding (eg, peptic ulcer disease)

Hematemesis, melena

Lower GI bleeding (eg, colonic diverticulosis)

Hematochezia

Rovsing sign (acute appendicitis)

Severe RLQ pain with palpation of LLQ

McBurney sign (acute appendicitis)

Severe RLQ pain with deep tenderness

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Severe jaundice in neonate

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

Golden brown rings around peripheral cornea

Cholelithiasis (gallstones)

Female, fat (obese), fertile (multiparity), forty, fair

Cancer of pancreatic head obstructing the bile duct

Painless jaundice with enlarged gallbladder

Burton line (lead poisoning)

Bluish line on gingiva

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

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

Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury)

Neonate with arm paralysis following difficult birth, arm in “waiter’s tip” position

Anterior cruciate ligament injury

Anterior drawer sign ⊕

Osteitis deformans (Paget disease of bone, osteoblastic and osteoclastic activity)

Bone pain, bone enlargement, long bone chalk-stick fractures

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

Swollen, hard, painful finger joints in an elderly individual, pain worse with activity

Gout/podagra (hyperuricemia)

Sudden swollen/painful big toe joint, tophi

Sjögren syndrome (autoimmune destruction of exocrine glands)

Dry eyes, dry mouth, arthritis

Reactive arthritis associated with HLA-B27

Urethritis, conjunctivitis, arthritis in a male

Systemic lupus erythematosus

“Butterfly” facial rash, arthritis, cytopenia, and fever in a young female

Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes

Kaposi sarcoma, associated with HHV-8

Dark purple skin/mouth nodules in a patient with AIDS

Babinski sign (UMN lesion)

Dorsiflexion of large toe with fanning of other toes upon plantar scrape

Epidural hematoma (middle meningeal artery rupture; branch of maxillary artery)

Lucid interval after traumatic brain injury

Subarachnoid hemorrhage

“Worst headache of my life”

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

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

Huntington disease (autosomal dominant CAG repeat expansion)

Chorea, dementia, caudate degeneration

Normal pressure hydrocephalus

Urinary incontinence, gait apraxia, cognitive dysfunction

Multiple sclerosis

Relapsing and remitting nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Guillain-Barré syndrome (acute inflammatory demyelinating polyneuropathy)

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

UMN damage

Hyperreflexia, hypertonia, Babinski sign present

LMN damage

Hyporeflexia, hypotonia, atrophy, fasciculations

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

Unilateral facial drooping involving forehead

Horner syndrome (sympathetic chain lesion)

Ptosis, miosis, anhidrosis

Delirium (usually 2° to other cause)

“Waxing and waning” level of consciousness (acute onset), low attention span, low level of arousal

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

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

Nephrotic syndrome

Periorbital and/or peripheral edema, proteinuria (> 3.5 g/ day), hypoalbuminemia, hypercholesterolemia

Alport syndrome (mutation in type IV collagen)

Hereditary nephritis, sensorineural hearing loss, retinopathy, anterior lenticonus

Rapid Review Classic Presentations Flashcards

(86 cards)