Prenatal diagnosis of neuronal ceroid-lipofuscinoses.
We report on the successful prenatal diagnosis of the late infantile "Jansky-Bielschowsky" variant of the neuronal ceroid-lipofuscinoses (NCL). The fetus was studied at 16 weeks of gestation because of an affected sib. Uncultured amniotic fluid cells were studied by conventional electron microscopic techniques. About one-third of a subpopulation of dark, elongated cells contained one or more deposits of curvilinear cytosomes bound by a single unit membrane. These findings were considered typical of the late infantile variant of NCL. After delivery at term, a skin punch biopsy and a buffy coat preparation from the baby were examined and found to have similar characteristic inclusions, which confirmed our prenatal diagnosis.
D001706:Biopsy; D005260:Female; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000196:embryology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012640:Seizures / Q000235:genetics