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Microcephaly associated with abnormal gyral pattern.

L Sztriha1, A Dawodu, A Gururaj

  • 1Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. sztriha@uaeu.ac.ae

Neuropediatrics
|January 4, 2005
PubMed
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Primary microcephaly, a brain malformation, presents diverse gyral patterns. This study details MRI findings and clinical features in 14 children, highlighting associated neurological deficits and epilepsy.

Area of Science:

  • Neurology
  • Pediatrics
  • Radiology

Background:

  • Primary microcephaly is a heterogeneous condition characterized by reduced head circumference and brain size.
  • It can manifest with either a normal or abnormal gyral pattern, indicating variations in cortical development.

Purpose of the Study:

  • To describe the magnetic resonance imaging (MRI) findings and clinical features of 14 children with microcephaly and abnormal gyral patterns.
  • To investigate the spectrum of cerebral malformations associated with microcephaly.

Main Methods:

  • Retrospective analysis of MRI scans and clinical data from 14 pediatric patients.
  • Detailed description of gyral patterns, corpus callosum development, posterior fossa structures, and other brain anomalies.

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Main Results:

  • Fourteen children with microcephaly and abnormal gyral patterns were identified; most were of Arab ethnicity and from consanguineous families.
  • Observed malformations included simplified gyral patterns, agyria-pachygyria spectrum, polymicrogyria, cortical dysplasia, leukoencephalopathy, and agenesis or hypoplasia of the corpus callosum.
  • Significant cerebellar hypoplasia was noted in several cases.
  • High mortality rate in the neonatal period and infancy.
  • Survivors exhibited developmental delay, intellectual disability, neurological deficits, and epilepsy in nine cases.

Conclusions:

  • Microcephaly with abnormal gyral patterns represents a severe spectrum of cerebral malformations with significant morbidity and mortality.
  • Associated anomalies, particularly corpus callosum and cerebellar involvement, contribute to the clinical phenotype.
  • Early diagnosis and management are crucial for affected individuals.