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Microlissencephaly

L Sztriha1, L Al-Gazali, E Várady

  • 1Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain.

Pediatric Neurology
|May 20, 1998
PubMed
Summary

A rare microlissencephaly syndrome affecting three neonates in an inbred Arab family suggests an autosomal-recessive inheritance pattern. This genetic disorder causes severe brain abnormalities and multiple congenital anomalies in newborns.

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Microlissencephaly syndrome is a rare congenital disorder characterized by severe brain malformations.
  • Understanding its genetic basis is crucial for diagnosis and genetic counseling.

Observation:

  • A consanguineous Arab family presented with three neonates affected by microlissencephaly syndrome.
  • Brain MRI revealed a thin brain mantle with agyria-pachygyria, absent corpus callosum, and hypoplastic brainstem/cerebellum.
  • Affected neonates exhibited microcephaly, arthrogryposis multiplex congenita, and micropenis.

Findings:

  • The occurrence in multiple affected infants within a consanguineous family strongly suggests an autosomal-recessive mode of inheritance.
  • This case expands the known clinical spectrum and inheritance patterns of microlissencephaly syndrome.

Implications:

  • This finding aids in diagnosing similar cases and provides crucial information for genetic counseling in at-risk families.
  • Further research into the specific genetic mutations underlying this syndrome is warranted.

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