Rapid review Flashcards by Deleted Deleted

Gout, intellectual disability, self-mutilating behavior in a

boy

Lesch-Nyhan syndrome (HGPRT de!ciency, X-linked

recessive)

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Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener syndrome (dynein arm defect affecting cilia)

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Blue sclera

Osteogenesis imperfecta (type I collagen defect

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Elastic skin, hypermobility of joints, 􀁱”bleeding tendency

Ehlers-Danlos syndrome (type V collagen defect, type III

collagen defect seen in vascular subtype of ED)

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Arachnodactyly, lens dislocation (upward), aortic

dissection, hyperfexible joints

Marfan syndrome (fibrillin defect)

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

McCune-Albright syndrome (mosaic G-protein signaling mutation

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Calf pseudohypertrophy

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

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Child uses arms to stand up from squat

Duchenne muscular dystrophy (Gowers sign)

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Slow, progressive muscle weakness in boys

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne

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Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Patau syndrome (trisomy 13

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Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

Edwards syndrome (trisomy 18)

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Single palmar crease

Down syndrome

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Dilated cardiomyopathy, edema, alcoholism or malnutrition

wet beriberi (thiamine vitamin B1 deficiency)

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Dermatitis, dementia, diarrhea

Pellagra (niacin [vitamin B3] deficiency)

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Swollen gums, mucosal bleeding, poor wound healing, petechiae

petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/ lysine for collagen synthesis

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Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

McArdle disease (skeletal muscle glycogen phosphorylase deficiency

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Infant with hypoglycemia, hepatomegaly

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe

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Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Pompe disease (lysosomal α-1,4-glucosidase deficiency

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“Cherry-red spots” on macula

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

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Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

Gaucher disease (glucocerebrosidase deficiency

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Achilles tendon xanthoma

Familial hypercholesterolemia (r LDL receptor signaling

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Anaphylaxis following blood transfusion

IgA deficiency

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Male child, recurrent infections, no mature B cells

Bruton disease (X-linked agammaglobulinemia

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Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality

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“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 (secondary 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 feve

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

Measle

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 fngernails

Bacterial endocarditis

Retinal hemorrhages with pale center

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)- Strawberry tongue

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) disorder of BV

Skin hyperpigmentation, hypotension, fatigue

1° adrenocortical insuffciency (eg, Addison disease) | causes ? ACTH and ? 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) -seen in decreased PTH

No lactation postpartum, absent menstruation, cold | intolerance

``` Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction) ```

Deep, labored breathing/hyperventilation

Diabetic ketoacidosis (Kussmaul respirations)

Cutaneous fushing, diarrhea, bronchospasm

``` Carcinoid syndrome (right-sided cardiac valvular lesions, ? 5-HIAA)-seretonin ```

Pancreatic, pituitary, parathyroid tumor

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 defciency | anemia

plummer-Vinson syndrome (may progress to esophageal | squamous cell carcinoma)- "plummers DIE"

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; ? cancer risk, mainly GI or breast

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)