Megalencephalic Leukoencephalopathy with Subcortical Cysts.

ABSTRACT

Megalencephalic Leukoencephalopathy is a rare entity which was first described by Van Der Knaap et al in 1995.[1] It is a progressive neurodegenerative disorder characterized by slow progression of mental deterioration. Megalencephaly sets in early in the disease usually in first year and can be more than 4 standard deviation above the mean. Seizures are present in almost all the patients. [2] We present typical MRI findings in a case of megalencephalic leukodystrophy with sub-cortical cysts.Megalencephalic leukoencephalopathy with sub-cortical cysts is a rare entity that presents with macrocephaly and seizures. Mental deterioration is often mild with slow progression. Macrocephaly may be present at birth or develops in first year. Typical magnetic resonance imaging (MRI) findings help to clinch the diagnosis.