classic presentations Flashcards
Lesch - Nyhan syndrome (HGPRT def.)
- x-linked recessive
- gout
- intellectual disability
- self-mutilating behavior in a boy
Kartagener syndrome (dynein arm defect affecting cilia)
Triad: situs inversus, chronic sinusitis, bronchiectasis
- Also: infertility
- rare, Auto. Recessive
osteogenesis imperfecta (type 1 collagen defect)
blue sclera***, easy bruising, fracture with minor trauma, some pts experience deafness by age 40
- Type 1 is mildest and most common form (COL1A1> COL1A2)
Ehlers-Danlos Syndrome (type V collagen defect, Type 3 collagen defect seen in Vascular subtype of ED)
- elastic skin
- hypermobility of joints (hypermobile subtype is most common ED)
- increased bleeding tendency
Marfan syndrome (fibrillin defect)
- mitral valve prolapse
- aortic dissection
- retinal detachment (lens dislocation upward or temporal)
- Fibrillin 1 mutation
- Arachnodactyly
- Near-sightedness
- scoliosis
Also: hyperflexible joints
McCune Albright Syndrome (Gs-protein activating mutation)
Triad: Cafe-au-Lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty
GNAS1 somatic mutation
Other: multiple endocrine abnormalities
muscular dystrophy (general/most types)
-calf pseudohypertrophy
Duchenne Muscular Dystrophy (most common MD)
- X-linked Recessive
- frameshift mutation of Dystrophin gene
- calf pseudohypertrophy
- Gowers sign: child uses arms to stand up from squat
Becker Muscular Dystrophy
- X-linked
- non-frameshift deletions of dystrophin gene
- Less severe than duchenne–> “becker (better) than duchenne”
- slow, progressive muscle weakness in boys
Patau Syndrome (trisomy 13)
- infant with cleft lip/palate
- microcephaly or holoprosencephaly
- polydactyly
- cutis aplasia
Edwards Syndrome (trisomy 18)
- microcephaly
- rocker-bottom feet
- clenched hands
- structural heart defect
“Edward Cullen met Bella when she was 18”
Down syndrome (trisomy 21)
-some degree of intellectual disability
MSK: AA instability** scoliosis, SCFE, hip instability, recurrent patello-femoral dislocations, hyperflexible joints, ligament laxity, hypotonia, large gap between 1st and 2nd toes B/L, single palmar crease, excess nuchal skin, upward slanting eyes, flat nose and face, open mouth with protruding tongue*, short neck
Wet Beriberi (thiamine - Vit B1 deficiency)
Dilated cardiomyopathy, edema, alcoholism, malnutrition
Pellagra (niacin- Vit B3 deficiency)
dermatitis, dementia, diarrhea (3-Ds)
Scurvy (Vit C deficiency)
- can’t hydroxylate proline/lysine for collagen synthesis
- swollen gums
- mucosal bleeding
- poor wound healing (vit C- low immune defenses)
- petechiae
McArdle Disease (skeletal muscle glycogen phosphorylase deficiency)
- chronic exercise intolerance w/ myalgia
- fatigue
- painful cramps
- myoglobinuria
Cori disease (debranching enzyme deficiency) or Von Gierke disease (G-6-Pase Deficiency- more severe)
- infant with hypoglycemia
- hepatomegaly
pompe disease (lysosomal a-1,4- glucosidase deficiency)
- myopathy (infantile hypertrophic cardiomyopathy)
- exercise intolerance
“cherry red spots” on macula can be seen in…?
- Tay- Sachs disease (ganglioside accumulation)
- Niemann-pick disease (sphingomyelin accumulation)
- central retinal artery occlusion
Gaucher disease (glucocerebrosidase ((B-glucosidase def.))
- hepatosplenomegaly
- pancytopenia
- osteoporosis
- avascular necrosis of femoral head
- bone crises
Familial Hypercholesterolemia (dec LDL receptor signaling)
-Achilles tendon xanthoma
IgA def
-anaphylaxis following blood transfusion
Bruton disease (x-linked agammaglobulinemia)
- male
- recurrent infections
- no mature b cells
which congenital heart defects are cyanotic?
- ebstein anomaly
- Tetralogy of Fallot
- Tricuspid Atresia
- Transposition of the great Vessels
- truncus arteriosus
- Total anomalous pulmonary venous return
***all the one’s with T + ebstein
which congenital heart defects are NOT cyanotic
- ASD
- VSD
- PDA
- Coarctation of the aorta
*** all the ones with acronyms
Tetralogy of fallot
RV outflow obstruction
Tetrad: VSD, RV hypertrophy, overriding aorta, Pulmonary stenosis
cyanosis
“tet” spells
Cardiac tamponade
beck triad: hypotension, jugular venous distension, muffled heart sounds
other s/s: reduced PMI, cool extremities, clear lungs
occurs in pericardium
pericardial effusion
due to acute aortic dissection (type A)
Hyper IgE syndrome (job Syndrome: neutrophil chemotaxis abnormality)
recurrent cold (non-inflamed abscesses); eczema; high serum IgE; inc Eosinophils
strawberry tongue is associated w?
scarlet fever and kawasaki disease
C.difficile infection
abd pain; diarrhea; leukocytosis; recent antibiotic use
Pott disease (vertebral TB)
back pain, fever, night sweats
Waterhouse-Friedrichsen Syndome (meningococcemia)
adrenal hemorrhage; hypotension, DIC
Klebsiella Pneumoniae pneumonia
“red currant jelly” sputum in alcoholic or diabetic patients
erythema migrans from Ixodes tick bite (Lyme disease: Borrelia burgdorferi)
Large rash w/ bulls-eye appearance
primary syphilis (Treponema pallidum)
Non-painful, indurated chancre (ulcerated genital lesion)
Chancroid (haemophilus ducreyi)
painful ulcerated genital lesion with exudate
Tertiary syphilis (neurosyphilis)
Argyle Robertson pupil: pupil accommodates but does not react
secondary syphilis
condyloma lata: smooth, moist, painless, wart-like white lesions on genitals
Jarisch-Herxheimer reaction
rapid lysis of spirochetes –> endotoxin-like release
S/S:
- fever
-chills
- HA
- myalgia following antibiotic tx for syphilis
pasteurella multocida cellulitis
cellulitis at inoculation site from a dog or cat bite resulting in infection
Rash on palms and soles is assoc. with what diseases?
- coxsackie A virus
- secondary syphilis
- Rocky Mountain spotted fever
Black eschar on face of pt with diabetic ketoacidosis (DKA)
mucor or Rhizopus fungal infection
congenital toxoplasmosis
- chorioretinitis
- hydocephalus
- intracranial calcifications
Erythema infectiosum (fifth’s disease)
- “slapped cheeks”
- parvovirus B19
- child with fever later develops red rash on face that spreads to body
measles
- fever
- cough
- coryza
- conjunctivitis
- diffuse rash
