Child's Nervous System

, Volume 28, Issue 12, pp 2029–2031

Alexander’s disease: reassessment of a neonatal form

  • Navneet Singh
  • Catherine Bixby
  • Denzil Etienne
  • R. Shane Tubbs
  • Marios Loukas
Review Paper

DOI: 10.1007/s00381-012-1868-8

Cite this article as:
Singh, N., Bixby, C., Etienne, D. et al. Childs Nerv Syst (2012) 28: 2029. doi:10.1007/s00381-012-1868-8

Abstract

Introduction

Alexander disease is a disorder caused by a mutation and accumulation of the glial fibrillary acidic protein. Currently, three subtypes are acknowledged: an infantile, a juvenile, and an adult form. However, onset early in infancy or in the prenatal period has been shown to present with a uniform pattern of symptoms—suggesting the presence of a distinct neonatal form of the disease.

Results and discussion

Though the neonatal form of Alexander disease is not well acknowledged, a uniform and distinct presentation of the disease in neonates has been observed, suggesting the need for a different course of identification and treatment. Clinical presentation of the neonatal form is distinguished by leukodystrophy and generalized, frequent, and intractable seizures. While the infantile form presents with ataxia, hyperreflexia, and other upper motor neuron symptoms, none of these has been observed in the neonatal form. In the diagnosis of neonatal Alexander disease, it is essential to rule out other causes of leukodystrophy and the presence of neoplasms.

Keywords

Alexander diseaseNeonatalInfantileLeukodystrophy

Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Navneet Singh
    • 1
  • Catherine Bixby
    • 1
  • Denzil Etienne
    • 1
  • R. Shane Tubbs
    • 3
  • Marios Loukas
    • 1
    • 2
  1. 1.Department of Anatomical Sciences, School of MedicineSt George’s UniversityWest IndiesGrenada
  2. 2.Department of AnatomyVarmia and Mazuria Medical SchoolOlsztynPoland
  3. 3.Pediatric NeurosurgeryChildren’s HospitalBirminghamUSA