Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis

P. M. Macleod, C. L. Dolman, R. E. Nickel, E. Chang, J. Zonana, K. Silvey

Research output: Contribution to journalLetterpeer-review

12 Scopus citations

Abstract

To the Editor: The term “neuronal ceroid lipofuscinosis”1 refers to a group of the most common hereditary progressive encephalopathies of childhood and adolescence, for which the chemical nature of the storage material and the primary enzyme defect remain to be identified.2 Four main syndromes are recognized, which differ in the age of onset, clinical course, and ultrastructural findings. The late infantile form of neuronal ceroid lipofuscinosis (Jansky–Bielschowsky–McKusick)3 is characterized by the development of seizures at three years of age, a leveling off of development, and rapid mental deterioration, with quadriplegia, spasticity, and blindness. Death usually occurs by the age of.

Original languageEnglish (US)
Number of pages1
JournalNew England Journal of Medicine
Volume310
Issue number9
DOIs
StatePublished - Mar 1 1984

ASJC Scopus subject areas

  • Medicine(all)

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