Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyria

AJNR Am J Neuroradiol. 2003 Mar;24(3):394-7.

Abstract

An 11-month-old boy was discovered to have a cleft palate, club foot, hypospadias, and myoclonic seizures. No in utero exposure to teratogens was identified. Brain MR imaging revealed a middle interhemispheric fusion variant of holoprosencephaly, diffuse polymicrogyria, and a hypoplastic brain stem; this was a distinctly unusual association of findings. We hypothesize that an unknown genetic factor causes disturbances of cleavage of the prosencephalon as well as neuronal migration and organization.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / pathology
  • Brain Stem / abnormalities*
  • Brain Stem / pathology
  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / pathology
  • Cleft Palate / diagnosis
  • Diagnosis, Differential
  • Holoprosencephaly / diagnosis*
  • Humans
  • Infant
  • Magnetic Resonance Imaging*
  • Male
  • Neurologic Examination