RR - Classic Presentations - complete

p. 719-26

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

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

Situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility

primary ciliary dyskinesia (Kartagener syndrome)

blue sclera, multiple fractures, dental problems, conductive/mixed hearing loss

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 and temporal), aortic dissection, hyperflexible joints

Marfan syndrome (fibrillin-1)

arachnodactyly, pectus deformity, lens dislocation (downward)

homocystinuria (AR cystathionine synthase deficiency)

café au lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

McCune-Albright syndrome (G-protein activating mutation)

meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility, malabsorption/vitamin deficiencies

cystic fibrosis (CFTR gene defect, chromosome 7, change @F508)

calf pseudohypertrophy

Muscular dystrophy (most commonly Duchenne, X linked recessive frameshift mutation of dystriphin gene)

child uses arms to stand up from squat

Duchenne muscular dystrophy (Gowers sign)

slow, progressive muscle weakness in boys

Becker muscular dystrophy (Xlinked non-frameshift deletions 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, flat facies, prominent epicanthal folds, congenital heart disease, intellectual disability

Down syndrome (trisomy 21)

microcephaly, high-pitched cry, intellectual disability

Cri du chat (cry of the cat) syndrome

confusion, opthalmoplegia/nystagmus, ataxia

wenicke encephalopathy (add confabulation/memory loss and personality changes for Korsakoff syndrome)

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

Wet beriberi (thiamine - B1 - deficiency)

dermatitis, dementia, diarrhea

Pellagra (niacin - B3 - deficiency)

burning feet syndrome, dermatitis, enteritis, alopecia

pentothenic acid - B5 - deficiency

megaloblastic anemia, subacute combined degeneration, parasthesias, cognitive changes

cobalamin - B12 - deficiency; malabsorption, decreased intrinsic factor, absent terminal ileum

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

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

bowlegs (children), bone pain, and muscle weakness

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

hemorrhagic disease of newborn with aPTT, normal bleeding time

vitamin K deficiency

intellectual disability, musty body odor, hypopigmented skin, eczema

phenylketonuria (tetrahydrobiopterin (BH4) deficiency)

bluish black connective tissue, ear cartilage, sclerae; severe arthralgias; urine turns black on prolonged exposure to air

alkaptonuria (homogentisate oxidase deficiency; ochronosis)

infant with hypoglycemia, hepatomegaly, cadiomyopathy

Cori disease (debranching enzyme deficiency) or con Gierke disease (G6PD, but more severe)

chronic exercise intolerance with myalgia, fatique, painful cramps, myoglobinuria

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

“cherry red spots” on macula

Tay Sachs (ganglioside accumulation; no hepatosplenomegaly

Niemann-Pick disease (sphingomyelin accumulation; hepatosplenomegaly); central retinal artery occlusion

hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises

Gaucher disease (glucocerebrosidase (B-glucosidase) deficiency)

achilles tendon xanthoma, corneal arcus

familial hypercholesterolemia (decreased LDL receptor signaling)

male child, recurrent infections, NO mature B cells

burton disease (x-linked agammaglobulinemia (BTK gene defect))

anaphylaxis following blood transfusion, atopy, airway/GI infections, autoimmune disease

selective IgA deficiency

recurrent cold (noninflamed) abcesses, eczema, high serum IgE, increased eosinophils

hyper-IgE syndrome (Job syndrome: neutrophil cheotaxis abnormality; STAT3 mutation)

late separation (>30 days) of umbilical cord, no pus, recurrent skin and mucosal bacterial infections

leukocyte adhesion deficiency (type 1; defective LFA-1 (CD18) integrin)

recurrent infections and granulomas with catalase positive organisms

chronic granulomatous disease (defect of NADPH oxidase)

fever, vomiting, diarrhea, desquamating rash following prolonged use of nasal pack or tampon

staphylococcal toxic shock syndrome

“strawberry tongue”

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

colon cancer associated with infective endocarditis

strep gallolyticus (formerly S. bovis)

flaccid paralysis in newborn after ingestion of honey

c. botulinum infection (floppy baby syndrome)

abdominal pain, diarrhea, leukocytosis, recent antibiotic use

c. diff infection

tonsillar pseudomembrane with “bull’s neck” appearance

cornyebacterium diptheria infection

back pain, fever, night sweats

Pott disease (vertebral TB)

acute adrenal insufficiency, fever, bilateral adrenal hemorrhage

waterhouse-friderichsen syndrome (meningiococcemia)

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

klebsiella pneumoniae pneumonia

fever, chills, headache, myalgia following antibiotic tx for syphilis

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

large rash with bull’s eye appearance, flu like symptoms

erythema migrans from ixodes tick bite (Lyme disease: borrelia)

ulcerated genital lesion

nonpainful, indurated: chancre (1° syphilis, treponema pallidum)

painful, with exudate: chancroid (h. ducreyi)

smooth, moist, painless, wartlike white lesions on genitals

condylomata lata (2° syphilis)

pupil accommodates but doesn’t react to light

neurosyphilis Argyll Robertson pupil (3° [neuro] syphilis)

dog or cat bite resulting in infection (cellulitis, osteomyelitis)

pasteurella multocida (cellulitis at inoculation site)

atypical “walking pneumonia” with x-ray looking worse than the patient

mycoplasma pneumoniae infection

rash on palms and soles

coxsackie A infection, 2° syphilis, Rocky Mountain spotted fever

black eschar on face of patient with diabetic ketoacidosis and/or neutropenia

mucor or rhizopus fungal infection

chorioretinitis, hydrocephalus, intracranial calcifications, ± blueberry muffin rash

congenital toxoplasmosis

pruritus, serpiginous rash after walking barefoot, microcytic anemia

hookworm (ancylostoma spp., necator americanus)

child with fever later develops red rash on face that spreads to body

erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)

fever, cough, conjunctivitis, coryza, diffuse rash

measles

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

Koplik spots (measles [rubeola] virus)

hyperdynamic pulses, wide pulse pressure, early diastolic murmur (decrescendo), head bobbin

aortic regurgitation

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

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

postcardiac injury syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 wks to several months after acute episode)

distant heart sounds, distended neck veins, hypotension

Beck triad of cardiac tamponade

painful, raised red/purple 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

infective endocarditis

retinal hemorrages with pale centers

Roth spots (infective endocarditis)

telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome)

polyuria, polydipsia

primary polydipsia, diabetes mellitus (1&"2), diabetes insipidus (central, nephrogenic)

no lactation postpartum, absent menstruation, cold intolerance

sheehan syndrome (severe postpartum hemorrhage leading to pituitary infarction)

heat intolerance, weight loss, palpitations, fine tremor, hyperreflexia

hyperthyroidism

cold intolerance, weight gain, brittle hair, depressed mood, hyporeflexia

hypothyroidism

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

myxedema (caused by hypothyroidism or hyperthyroidism [graves disease])facia

facial muscle spasm upon tapping

chvostek sign (hypocalcemia)

carpal spasm upon inflation of BP cuff

trousseau sign (hypocalcemia)

rapid, deep, labored breathing/hyperventilation

diabetic ketoacidosis (Kussmal respirations)

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

chronic 1° adrenal insufficiency (addison disease) → increased ACTH and increased MSH

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

acute adrenal insufficiency (adrenal crisis)

pancreatic, pituitary, parathyroid tumors

MEN1 (AD MEN1 mutation)

medullary thyroid carcinoma, parathyroid hyperlasia, pheochromocytoma

MEN2A (AD RET mutation)

medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas, marfanoid habitus

MEN2B (AD RET mutation)

cutaneous flushing, diarrhea, bronchospasm, heart murmur

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

jaundice, palpable distended nontender gallbladder

courvoisier sign (distal obstruction of biliary tree by pancreatic head malignancy)

vomiting blood following gastroesophageal lacerations ± abdominal/back pain

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

dysphagia (esophageal webs), glossitis, iron deficiency anemia

plummer-vinson syndrome (may progress to esophageal squamous cell carcinoma)

enlarged, hard left supraclavicular node

virchow node (metastasis from abdominal malignancy)

hematemesis, melena

upper GI bleeding (eg peptic ulcer disease)

hematochezia

lower GI bleeding (eg colonic diverticulosis)

arthralgias, cardiac and neurological symptoms, diarrhea

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, hyperpigmented macules on mouth, feet, hands, and genetalia

Peutz-Jughers syndrome (inherited, benign polyposis can cause bowl obstuction; increased breast/GI cancer risk)

multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

gardner syndrome (subtype of FAP)

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)

female, fat (obese), fertile (multiparity), forty, fair, feeds (TPN), fasting (rapid weight loss)

cholelithiasis (gallstones)

bluish line on gingiva

burton line (lead poisoning)

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)