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
Von Hippel Lindau
autosomal dominant
Hemangioblastoma (brain, spinal cord, retina)
retinal usu in childhood, brain usu in adults
Renal Cell Carcinoma
Pheochromocytoma
Zellweger Syndrome
Defective peroxisome biogenesis
Facial dysmorphism, large AF, hypotonia, liver dz
Bony calcification stippling of joints
