Miscellaneous Syndromes Flashcards
Fitz-Hugh-Curtis
Neisseria gonorrhea >> perihepatitis RUQ pain, salpingitis sx S/t pleuritic pain or referred to shoulder S/t hepatic friction rub nl LFTs/US
Alport Syndrome
aka Familial Nephritis
Etiology: mutation in Collage IV
Genetics: 85% x-linked, can be AD, AR
Symptoms:
hematuria, proteinuria, HTN
progressive high-frequency hearing loss (noticeable in late childhood/early adolescence)
optic changes (30%)
Diagnosis: skin/renal bx
Prognosis: progression to ESRD (by ~30yo), progressive HTN, hearing loss
*can be benign hematuria in women w/x-linked
Kallmann Syndrome
male:female 5:1
anosmia
gonadotropin deficiency > delayed puberty
Kartagener Syndrome
Triad of:
situs inversus
bronchiectasis (d/t ciliary dyskinesia)
chronic sinusitis (d/t ciliary dyskinesia)
Klinefelter Syndrome
delayed puberty
Klippel-Feil
congenital synostosis > cervical vertebrae fusion
decreased motion, stress on unaffected vertebrae
long-term instability, DJD
develops in 1st trimester > often associated w/GU, cardiopulm, CNS abnormalities
neck appears short w/low posterior hair line
McCune-Albright Syndrome
autonomous gonadal steroid production > PPP
Klippel-Trenaunay
vascular malformation
asymmetric overgrowth
Menetrier Disease
Gastric rugal hypertrophy
Causes protein-losing enteropathy
Possibly d/t CMV
Usually benign, self-limited
Osler Weber Rendu
hereditary hemorrhagic telangiectasia
recurrent epistaxis, cutaneous telangiectasias
develop later in life
Potter syndrome
Oligohydramnios sequence: Renal agenesis (or other cause) >> facial anomalies (nose compression, over-folded ears), abnormal limb positions, pulmonary hypoplasia
Ramsay Hunt
VZV»_space; Bell’s palsy
check ear canal for vesicles
can cause hearing loss, vertigo
Smith-Lemli-Opitz Syndrome
Cholesterol biosynthesis d/o
LD, behavioral abnl, neonatal malformations
Syndactyly (2nd/3rd toes)
Polydactyly
CHD (ASD, VSD, AV canal defect)
Renal, GI malformations
Brain anomalies (microcephaly, agenesis of corpus callosum)
Reiter Syndrome
reactive arthritis
enteric/genital infections
Turner Syndrome
delayed puberty
