Preterm birth in Sjögren-Larsson syndrome

Area of Science:

• Genetics
• Biochemistry
• Neonatal Medicine

Background:

• Sjögren-Larsson syndrome (SLS) is a rare genetic disorder characterized by spasticity, intellectual disability, and congenital ichthyosis.
• The underlying cause of SLS is a deficiency in microsomal fatty aldehyde dehydrogenase (FALDH).
• Understanding the clinical manifestations during pregnancy and the neonatal period is crucial for early diagnosis and management.

Purpose of the Study:

• To document clinical findings during pregnancy, labor, and the neonatal period in 15 patients with Sjögren-Larsson syndrome.
• To investigate potential contributing factors to preterm birth in SLS.
• To highlight the importance of considering SLS in neonates with congenital ichthyosis, particularly those born preterm.

Main Methods:

• Retrospective review of clinical data from 15 SLS patients.
• Analysis of pregnancy, labor, and neonatal outcomes.
• Comparison of preterm birth rates in SLS patients and healthy siblings.

Main Results:

• Pregnancies were generally uncomplicated, with three cases of preterm rupture of membranes.
• Preterm birth occurred in 73% of SLS children (mean gestational age 35.3 weeks), with all born by 38 weeks.
• Neonatal period was mostly uncomplicated, except for hemolytic disease in two patients; preterm birth was rare in healthy siblings (7%).

Conclusions:

• Prematurity and spasticity are concurrent features of SLS, not causally related.
• SLS should be suspected in neonates with congenital ichthyosis, especially if born preterm.
• Defective leukotriene B4 (LTB4) inactivation may contribute to preterm birth in SLS.