Prenatal diagnosis of mucolipidosis IV by electron microscopy

G. Kohn, N. Livni, A. Ornoy, E. Sekeles, Y. Beyth, C. Legum, G. Bach, M. M. Cohen

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


Mucolipidosis IV, a recently recognized metabolic storage disease, is characterized clinically by corneal opacity in infancy, full facial features, and psychomotor retardation. Electron microscopy of cells from a 2-year-old affected girl revealed multiple cytoplasmic storage bodies. Cultured amniotic fluid cells, in two subsequent pregnancies, demonstrated similar abnormal storage bodies. Electron microscopic examination of various uncultured tissues from one abortus demonstrated abnormal inclusions in the cells of the brain, cornea, conjunctiva, and other epithelial tissues, thus confirming the prenatal diagnosis. This suggests that mucolipidosis IV is an autosomal recessive trait and demonstrates the efficacy of electron microscopy in the prenatal diagnosis of metabolic storage diseases whose biochemical defect is yet unknown.

Original languageEnglish
Pages (from-to)62-66
Number of pages5
JournalJournal of Pediatrics
Issue number1
StatePublished - Jan 1977
Externally publishedYes


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