Agrawal Disease (Megalencephalic Leukoencephalopathy with Subcortical Cysts): A Rare Neurological Case Report

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy marked by early-onset macrocephaly, delayed milestones and progressive motor decline. It shows characteristic magnetic resonance imaging (MRI) findings, including diffuse white matter changes and subcortical cysts, especially in the anterior temporal lobes. We report a case of a 10-month-old female from a nonconsanguineous Agarwal family in North India, presenting with macrocephaly and developmental delay. MRI revealed classic features of MLC. The case highlights the importance of early diagnosis even in nonconsanguineous families within genetically predisposed communities.