Alexander's disease in a neurologically normal child: a case report

Scott O Guthrie; Edward M Burton; Paul Knowles; Robert Marshall

doi:10.1007/s00247-002-0776-6

Alexander's disease in a neurologically normal child: a case report

Pediatr Radiol. 2003 Jan;33(1):47-9. doi: 10.1007/s00247-002-0776-6. Epub 2002 Aug 16.

Authors

Scott O Guthrie¹, Edward M Burton, Paul Knowles, Robert Marshall

Affiliation

¹ Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga Unit, Erlanger Health System, 975 East Third Street, Chattanooga, TN 37304, USA.

PMID: 12497239
DOI: 10.1007/s00247-002-0776-6

Abstract

We report the clinical and MRI findings of symmetric hyperintensity involving the deep and subcortical white matter of the frontal lobes in a neurologically normal child with macrocephaly. In this patient, a serum test for mutations in glial fibrillary acidic protein, used to diagnose Alexander's disease (AD), was positive. This case indicates an extraordinarily mild or early form of juvenile-onset AD.

Publication types

Case Reports

MeSH terms

Alexander Disease / congenital*
Alexander Disease / diagnosis
Alexander Disease / genetics
Child, Preschool
Genetic Markers / genetics
Glial Fibrillary Acidic Protein / blood
Glial Fibrillary Acidic Protein / genetics
Humans
Magnetic Resonance Imaging
Male
Neurodegenerative Diseases / congenital*
Neurodegenerative Diseases / diagnosis
Neurodegenerative Diseases / genetics
Point Mutation / genetics

Substances

Genetic Markers
Glial Fibrillary Acidic Protein