• Gretchen Wieck
  • Richard Leventer
  • Waney Squier
  • A. Ramazzotti
  • Anna Jansen
  • E Andermann
  • François Dubeau
  • Renzo Guerrini
  • William Dobyns
OBJECTIVE: Polymicrogyria (PMG) and periventricular
nodular heterotopia (PNH) are two developmental brain
malformations that have been described independently in
multiple syndromes. Clinically, they present with epilepsy
and developmental handicaps in both children and adults.
Here we describe their occurrence as the two major findings
in a new cortical malformation syndrome with several distinct
subtypes. METHODS: Twenty-seven patients were
identified as having both PNH and PMG on brain imaging.
Their brain imaging characteristics and clinical data were reviewed.
Mutation analysis for FLN1 was carried out on six
patients. RESULTS: The group was divided into two main
subtypes based on brain imaging findings. The posterior
PNH-PMG subtype had 16 patients and was characterized
by PNH in the posterior and inferior lateral ventricles, and
by PMG that was most severe in the temporo-parietooccipital
regions. The perisylvian PNH-PMG subtype had
eight patients and was characterized by PNH lining the lateral
body and frontal horns of the lateral ventricles, and by
PMG that was most severe in the perisylvian areas, occasionally
with extension to the frontal and parietal lobes. Two
variants were distinguished that were distinct from the two
main subtypes. Key differences in the clinical characteristics
of the two main subtypes were distinguished, including differences
in developmental outcome and seizures. No FLN1
mutations were identified. CONCLUSIONS: The PNHPMG
subtypes and variants we describe have distinct imaging
and clinical phenotypes, suggesting multiple genetic etiologies
involving defects in a gene or genes. Delineation of
these syndromes will aid in providing more accurate diagnosis
and prognostic information for patients with these malformations.
Original languageEnglish
Pages (from-to)93-93
Number of pages1
JournalAnnals of Neurology
Volume56
Publication statusPublished - 2004
Event33nd Annual Meeting of the Child Neurology Society - Ottawa, Canada
Duration: 13 Oct 200416 Oct 2004

    Research areas

  • Developmental brain malformations

ID: 2343960