Prenatal diagnosis of neuronal ceroid-lipofuscinoses

P. M. MacLeod, C. L. Dolman, R. E. Nickel, E. Chang, S. Nag, J. Zonana, K. Silvey

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


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 or 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.

Original languageEnglish (US)
Pages (from-to)781-789
Number of pages9
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 1985

ASJC Scopus subject areas

  • Genetics(clinical)


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