Connatal Pelizaeus-Merzbacher disease: An autosomal recessive form

Suzanne B. Cassidy, Nancy C. Sheehan, Donald F. Farrell, Margaret Grunnet, Gregory L. Holmes, Andrew W. Zimmerman

Research output: Contribution to journalArticle

Abstract

An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, seizures, nystagmus, visual impairment, abnormal movements, and spasticity. There was nearly complete absence of central myelin with preservation of peripheral myelin. The 17 reported patients with connatal Pelizaeus-Merzbacher disease are summarized. Evidence of autosomal recessive inheritance is provided by our patient, 3 previously described girls, and 1 family with both boys and girls affected equally. This possible form of inheritance is important to consider in genetic counseling.

Original languageEnglish (US)
Pages (from-to)300-305
Number of pages6
JournalPediatric Neurology
Volume3
Issue number5
DOIs
StatePublished - 1987
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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  • Cite this

    Cassidy, S. B., Sheehan, N. C., Farrell, D. F., Grunnet, M., Holmes, G. L., & Zimmerman, A. W. (1987). Connatal Pelizaeus-Merzbacher disease: An autosomal recessive form. Pediatric Neurology, 3(5), 300-305. https://doi.org/10.1016/0887-8994(87)90072-5