Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria)


Ozmen M., Yilmaz Y., Caliskan M., Minareci O., Aydinli N.

TURKISH JOURNAL OF PEDIATRICS, vol.42, pp.210-214, 2000 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 3
  • Publication Date: 2000
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.210-214

Abstract

Lissencephaly (agyria-pachygyria) is the most severe neuronal migration disorder, characterized by total or partial absence of gyri. In this study, 21 patients with lissencephaly type I (9 girls, 12 boys) with a mean age of 19+/-21 months (2 weeks-8 years) were evaluated clinically and graded according to neuroradiological findings (19 patients by magnetic resonance imaging MRI and 2 by computed tomography CT). Three patients were classified as lissencephaly grade 2 and 18 patients as grade 3 or 4. Clinically, 12 patients (57%) had microcephaly, and eight (38%) had facial dysmorphism. All the patients had prominent psychomotor retardation, moderate to severe; the most frequent neurological findings were spastic guadriplegia (36.4%) and hypotonia with exaggerated tendon reflexes (27.3%). Seventy-eight percent of the patients had epileptic seizures resistant to conventional treatment. Lissencephaly is a cerebral cortical malformation that should be considered in children with developmental delay with or without micocephaly and facial dysmorphism. In addition, it should be investigated in the etiology of early-onset childhood epilepsy.