Serial magnetic resonance imaging findings in NAXE-related pediatric encephalopathy: Bilateral cerebellar and brainstem involvement

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy is a rare autosomal recessive neurometabolic disorder caused by NAXE mutations. We report three pediatric patients presenting with acute neurological deterioration following febrile illness. Serial magnetic resonance imaging demonstrated symmetric cerebellar, middle cerebellar peduncle, and brainstem involvement with diffusion restriction and progressive supratentorial white matter abnormalities. Recognition of this imaging pattern may aid early diagnosis and help distinguish NAXE-related encephalopathy from infectious or inflammatory mimics.