Surgical implications of the Smith-Lemli-Opitz syndrome.
Smith-Lemli-Opitz syndrome (SLOS) is a syndrome of rare multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. Prior to receiving the diagnosis of SLOS, affected children may present as a neonatal surgical emergency with ambiguous genitalia, Hirschsprung's disease, and pyloric stenosis. We present two fatal cases of SLOS with near-total Hirschsprung's disease; the surgical, anaesthetic, and medical aspects of the cases are discussed, and a literature review is presented.
Craigie
R J
RJ
Department of Paediatric Surgery, Royal Liverpool Children's NHS Trust, Alder Hey Hospital, Eaton Road, Liverpool, L12 2AP, UK.
Ba'ath
M
M
Fryer
A
A
Baillie
C
C
D017809:Fatal Outcome; D005835:Genitalia / Q000002:abnormalities; D006627:Hirschsprung Disease / Q000601:surgery; D006801:Humans; D007081:Ileostomy; D007231:Infant, Newborn; D007582:Jejunostomy; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000601:surgery*