Preterm birth in Sjogren-Larsson syndrome

Sjogren-Larsson syndrome (SLS) was originally described as a triad of spast icity, mental retardation and congenital ichthyosis. The syndrome reflects an underlying deficiency of microsomal fatty aldehyde dehydrogenase (FALDH) . We report on clinical data concerning pregnancy, labor and neonatal perio d in 15 patients. Pregnancies were uncomplicated, except for preterm ruptur e of membranes in three pregnancies, and the occurrence of preterm birth. M ean gestational age was 35.3 weeks (S.D. 2.4 weeks), and preterm birth was found in 73% of the children, while all children were born before or in the 38 th week of gestation. Birth weight was normal for gestational age in al l patients. The neonatal period was free from serious complications, apart from hemolytic disease in two patients. Preterm birth was found in 7% of th e healthy siblings, reflecting the normal population. Prematurity and spast icity are intrinsic and concurrent parts of SLS, without causal relation. S LS should be considered in every neonate with congenital ichthyosis, especi ally if the child is born preterm. A possible explanation for preterm birth in SLS could be the defective inactivation of leukotriene B-4 (LTB4), whic h recently has been demonstrated in patients with SLS.