Infantile-onset megalencephalic leucoencephalopathy in two siblings


Soylu H. , Yuksel A., Kutlu N. , Aydinli M., Seven M. , Mocan H.

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, vol.36, no.6, pp.598-602, 2000 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 6
  • Publication Date: 2000
  • Doi Number: 10.1046/j.1440-1754.2000.00522.x
  • Journal Name: JOURNAL OF PAEDIATRICS AND CHILD HEALTH
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.598-602

Abstract

Infantile-onset megalencephalic. leucoencephalopathy (IML) is a recently recognized autosomal recessive white matter disorder. Unlike other megalencephalic leucoencephalopathies, in patients with IML a mild clinical course, a slowly progressive delay in motor development and mild mental deterioration are typical. We report on two affected siblings who have typical clinical and radiological findings of IML. Cranial magnetic resonance imaging showed involvement of the capsula externa, extrema and interna, nucleus dentatus, cnrs cerebri, periventricular and subcortical white matter. In addition, bilateral cystic changes were determined predominantly in the temporal lobes. There were no clear biochemical or metabolic disturbances. In the present paper, we discuss the clinical and neuroimaging findings of IML.