Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period.
The study describes a dysmorphic newborn infant with life-threating anomaly, later diagnosed as trisomy 18, mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period. The establishment of the correct diagnosis in the first days of life is very important for the decision-making process, because trisomy 18 has a poor prognosis, and treatment is not instituted, whereas cholesterol supplementation may be of benefit to patients with Smith-Lemli-Opitz syndrome. Ultraviolet spectrophotometry showed very easy and rapid method for differentiation of both syndromes, where gas chromatography/mass spectrometry analysis is not available. (Fig. 2, Ref: 18.)
Bzduch
V
V
First Department of Pediatrics, Comenius University Children's Hospital, Bratislava, Slovakia. bzduch@inmail.sk
Behulova
D
D
Pevalova
L
L
Cisarik
F
F
Benedekova
M
M
D002887:Chromosomes, Human, Pair 18; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis*; D014314:Trisomy / Q000175:diagnosis*