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Journal of Pediatric Neurology 2008; 06(02): 155-158
DOI: 10.1055/s-0035-1557438
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Megalencephalic leukodystrophy with subcortical cysts in two siblings

Savio I. Godinho
a   KGS Advanced MRI and CT Center, Madurai, Tamil Nadu, India
,
Paritosh C. Khanna
b   Department of Diagnostic Imaging and Radiology, Children's National Medical Center/George Washington University, Washington, D.C. 20052, USA
,
Kaliappan G. Srinivasan
a   KGS Advanced MRI and CT Center, Madurai, Tamil Nadu, India
,
Zarir Khademian
b   Department of Diagnostic Imaging and Radiology, Children's National Medical Center/George Washington University, Washington, D.C. 20052, USA
,
Divya Krishnamoorthy
c   Department of Child Psychiatry, Mount Sinai Medical Center, Mount Sinai School of Medicine, New York, USA
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Publication History

17 February 2007

14 November 2007

Publication Date:
30 July 2015 (online)

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Abstract

Megalencephalic leukodystrophy with subcortical cysts is a rare, recently described condition. Infantile macrocephaly, initially normal development and gradual neurological deterioration and relative preservation of mental abilities predominate. Magnetic resonance imaging demonstrates an edematous brain with diffuse white-matter abnormalities and subcortical cysts. Megalencephalic leukodystrophy with subcortical cysts has been described as having a predilection for some communities. We report what is thought to be a sporadic case of two siblings of a consanguineous marriage, not belonging to known susceptible communities, who presented with characteristic features.

Keywords

Megalencephalic leukodystrophy with subcortical cysts - magnetic resonance imaging