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