Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis

L. Sztriha, L. I. Al-Gazali, E. Várady, H. H. Goebel, M. Nork

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

The clinical courses, neuroimaging and muscle biopsy findings of two infants born to an inbred Arab family are described. They had a syndrome of micrencephaly with simplified gyral pattern, abnormal myelin formation and arthrogryposis. Increased variation of fiber size was seen in the muscle biopsy, creatine kinase, however was normal. Large areas of muscle were replaced by adipofibrous tissue. The infants had dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. The abnormalities were suggestive of microlissencephaly probably associated with a dysgenetic process in the muscles. The syndrome showed an autosomal recessive inheritance.

Original languageEnglish
Pages (from-to)141-145
Number of pages5
JournalNeuropediatrics
Volume30
Issue number3
DOIs
Publication statusPublished - Jun 1999

Keywords

  • Abnormal myelination
  • Arthrogryposis
  • Autosomal recessive inheritance
  • Micrencephaly
  • Microlissencephaly

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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