J Genet Med.  2013 Dec;10(2):113-116. 10.5734/JGM.2013.10.2.113.

A Neonatal Form of Alexander Disease Presented with Intractable Seizures and Obstructive Hydrocephalus

  • 1Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital, Seoul, Korea. prabbit7@snu.ac.kr
  • 2Department of Pediatrics, Seoul National University Bundang Hospital, Gyeonggi-do, Korea.
  • 3Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.


Alexander disease is a rare degenerative leukodystrophy caused by dominant mutations in glial fibrillary acidic protein (GFAP). The neonatal form of Alexander disease may manifest as frequent and intractable seizures or obstructive hydrocephalus, with rapid progression leading to severe disability or death within two years. We report a case of a 50-day-old male who presented with intractable seizures and obstructive hydrocephalus. His initial magnetic resonance imaging (MRI) suggested a tumor-like lesion in the tectal area causing obstructive hydrocephalus. Despite endoscopic third ventriculostomy and multiple administrations of antiepileptic drugs, the patient experienced intractable seizures with rapid deterioration of his clinical status. After reviewing serial brain MRI scans, Alexander disease was suspected. Subsequently, we confirmed the de novo missense mutation in GFAP (c.1096T>C, Y366H). Although the onset was slightly delayed from the neonatal period (50 days old), we concluded that the overall clinical features were consistent with the neonatal form of Alexander disease. Furthermore, we also suspected that a Y366 residue might be closely linked to the neonatal form of Alexander disease based on a literature review.


Alexander disease; GFAP mutation; Hydrocephalus; Seizure
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