Affiliations: KGS Advanced MRI and CT Center, Madurai, Tamil Nadu,
India | Department of Diagnostic Imaging and Radiology,
Children's National Medical Center/ George Washington University, Washington,
D.C. 20052, USA | Department of Child Psychiatry, Mount Sinai Medical
Center, Mount Sinai School of Medicine, New York, USA
Note: [] Correspondence: Paritosh C. Khanna, M.D., 5004 39th Ave NE,
Seattle, Washington, WA 98105, USA. E-mail: [email protected]
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
