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Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Tunisian Boy

Department of Pediatrics B of the Children's Hospital of Tunis, Bab Saadoun, Tunis, Tunisia, faten.tinsa{at}hotmail.fr

Olfa Farid, MD

Department of Pediatrics B of the Children's Hospital of Tunis, Bab Saadoun, Tunis, Tunisia

Wiem Douira, MD

Department of Pediatric Radiology of the Children's Hospital of Tunis, Bab Saadoun, Tunis, Tunisia

Diana Rodriguez, MD, PhD

Department of Pediatric Neurology, Armand Trousseau Hospital, Paris, INSERM UMR S546, Paris, France, Pierre et Marie Curie-Paris, Paris

Lydie Burglen, MD, PhD

Department of Medical Genetics, Armand Trousseau Hospital, Paris, France

Khadija Boussetta, MD

Department of Pediatrics B of the Children's Hospital of Tunis, Bab Saadoun, Tunis, Tunisia

Souad Bousnina, MD

Department of Pediatrics B of the Children's Hospital of Tunis, Bab Saadoun, Tunis, Tunisia

Megalencephalic leukoencephalopathy with subcortical cysts is an autosomal recessive cerebral white-matter disorder in children. Megalencephalic leukoencephalopathy with subcortical cysts is caused by mutation in the megalencephalic leukoencephalopathy with subcortical cysts gene 1. The authors report a case of a 2-year-old Tunisian boy who had presented seizure following minor head trauma. He had megalencephaly, cerebellar ataxia, and mild pyramidal signs at physical examination. Magnetic resonance imaging showed extensive white-matter signal changes involving the corpus callosum and temporal subcortical cysts consistent with megalencephalic leukoencephalopathy with subcortical cysts. The molecular genetic study of the megalencephalic leukoencephalopathy with subcortical cysts gene 1 identified a homozygous mutation C46fsX57 in the patient. The mutation was found to be heterozygous in the parents. To the best of the authors' knowledge, this mutation has never been reported.

Key Words: leukoencephalopathy • megalencephalic • subcortical cysts

Journal of Child Neurology, Vol. 24, No. 1, 87-89 (2009)
DOI: 10.1177/0883073808324021


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