Focal pachypolymicrogyria in three siblings

Pediatr Neurol. 1998 May;18(5):435-8. doi: 10.1016/s0887-8994(97)00214-2.


The malformation of focal pachypolymicrogyria might be the manifestation of an X-linked recessive disorder according to the results of this study. Three siblings revealed focal pachypolymicrogyria on magnetic resonance imaging (MRI) and had a strong family history of epilepsy and mental retardation. All three siblings had the same mother; the father of Patient 1 was not related to the mother, but the father of Patients 2 and 3 was related to her. The MRI of the father of Patients 2 and 3 demonstrated focal pachypolymicrogyria. The mother's MRI was normal. In this family, epilepsy or mental retardation was found mainly in the males (Patient 3 was an exception), and they were all born to female members of this family, not male. Patient 3 was probably a homozygote with an X-linked recessive inheritance, and therefore, she demonstrated the most severe clinical findings.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain / abnormalities*
  • Brain / pathology
  • Cerebellar Cortex / abnormalities
  • Cerebellar Cortex / pathology
  • Cerebral Cortex / abnormalities
  • Cerebral Cortex / pathology
  • Child
  • Consanguinity
  • Epilepsy / genetics*
  • Epilepsy / pathology
  • Family Health*
  • Female
  • Gene Dosage
  • Genes, Recessive
  • Genetic Linkage
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Pedigree
  • X Chromosome