Background: Sjögren-Larsson syndrome is an autosomal recessive disease with sequelae including ichthyosis, mental retardation, and spasticity. Although fetal skin biopsy has permitted prenatal diagnosis of Sjögren-Larsson syndrome in the late second trimester, it is accompanied by substantial risks, including fetal loss, premature labor, and detection at a gestational age close to the legal limit for pregnancy termination in most states. A new technique involving biochemical assay of cultured amniocytes for reduced levels of fatty alcohol:oxidized nicotinamide-adenine dinucleotide (NAD+)-oxidoreductase may allow earlier and less invasive detection of Sjögren-Larsson syndrome. Case: A 38-year-old Lebanese woman, gravida 6, para 3, presented for prenatal diagnosis of Sjögren-Larsson syndrome following a history of two children bom with the disease. At 19 weeks’ gestation, multiple fetal skin biopsies were obtained by ultrasound-guided transabdominal percutaneous insertion of biopsy forceps. Histologic examination of the specimen revealed no evidence of Sjögren-Larsson syndrome. However, assay of fatty alcohol:NAD+-oxidoreductase in cultured amniocytes obtained at fetal skin biopsy showed a profound enzymatic deficiency. Additional fetal skin biopsies were obtained at 23.5 weeks’ gestation, and histologic examination was positive for Sjögren-Larsson syndrome. The patient elected to terminate the pregnancy, and a subsequent autopsy on the fetus confirmed Sjögren-Larsson syndrome. Conclusion: This case demonstrates the limitations of histologic examination of fetal skin specimens for the diagnosis of Sjögren-Larsson syndrome and indicates the potential value of biochemical detection from fetal amniocytes. This new technique may allow earlier diagnosis of Sjögren Larsson syndrome, is less invasive, and may be less psychologically traumatic for the patient if she elects to terminate the pregnancy. (Obstet Gynecol 1993;82:700–3).
ASJC Scopus subject areas
- Obstetrics and Gynecology