F. Al-Murshedi

Early-Onset Progressive Encephalopathy With Brain Oedema and/or Leukoencephalopathy 1: Report of three siblings

NAXE encephalopathy, also known as early-onset progressive encephalopathy with brain oedema and/or leukoencephalopathy-1 (PEBEL-1), is a rare and often lethal autosomal recessive mitochondrial disorder. Typical presentation includes psychomotor regression, ataxia, respiratory insufficiency and seizures triggered by feb...