Background: Sjogren-Larsson syndrome is an autosomal recessive disease
with sequelae including ichthyosis, mental retardation, and spasticit
y. Although fetal skin biopsy has permitted prenatal diagnosis of Sjog
ren-Larsson syndrome in the late second trimester, it is accompanied b
y substantial risks, including fetal loss, premature labor, and detect
ion at a gestational age close to the legal limit for pregnancy termin
ation in most states. A new technique involving biochemical assay of c
ultured amniocytes for reduced levels of fatty alcohol:oxidized nicoti
namide-adenine dinucleotide (NAD+)-oxidoreductase may allow earlier an
d less invasive detection of Sjogren-Larsson syndrome. Case: A 38-year
-old Lebanese woman, gravida 6, para 3, presented for prenatal diagnos
is of Sjogren-Larsson syndrome following a history of two children bor
n with the disease. At 19 weeks' gestation, multiple fetal skin biopsi
es were obtained by ultrasound-guided transabdominal percutaneous inse
rtion of biopsy forceps. Histologic examination of the specimen reveal
ed no evidence of Sjogren-Larsson syndrome. However, assay of fatty al
cohol:NAD+-oxidoreductase in cultured amniocytes obtained at fetal ski
n biopsy showed a profound enzymatic deficiency. Additional fetal skin
biopsies were obtained at 23.5 weeks' gestation, and histologic exami
nation was positive for Sjogren-Larsson syndrome. The patient elected
to terminate the pregnancy, and a subsequent autopsy on the fetus conf
irmed Sjogren-Larsson syndrome. Conclusion: This case demonstrates the
limitations of histologic examination of fetal skin specimens for the
diagnosis of Sjogren-Larsson syndrome and indicates the potential val
ue of biochemical detection from fetal amniocytes. This new technique
may allow earlier diagnosis of Sjogren-Larsson syndrome, is less invas
ive, and may be less psychologically traumatic for the patient if she
elects to terminate the pregnancy.