INFANTILE ALEXANDER DISEASE WITH LATE ONSET
INFANTILE SPASMS AND HYPSARRHYTHMIA
Paprocka J1,*, Rzepka-Migut B2, Rzepka N2, Jezela-Stanek A3, Morava E4
*Corresponding Author: Dr. Justyna Paprocka, Department of Paediatric Neurology, School of Medicine
in Katowice, Medical University of Silesia, Medyków 16, 40-752 Katowice, Poland. Tel: +48-606-
415-888. Fax: +48-322-071-615. E-mail: justyna.paprocka@interia.pl
page: 77
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Abstract
Alexander disease (AxD) is a rare autosomal dominant
leukodystrophy with three clinical subtypes: infantile,
juvenile and adult. Forms differ by age of symptoms occurrence
and the clinical presentation. Although recent data
suggest considering only two subtypes: type I (infantile
onset with lesions extending to the cerebral hemispheres);
type II (adult onset with primary involvement of subtentorial
structures). Dominant mutations in the glial fibrillary
acidic protein (GFAP) gene in AxD cause dysfunction of
astrocytes (a type III intermediate filament). The authors
discuss the clinical picture of a boy with infantile form of
AxD confirmed by the presence of de novo heterozygous
mutation c.236G>A in the GFAP gene and without striking
symptoms such as macrocephaly and with exceptional
late-onset epileptic spasms with hypsarrhyth- mia on electroencephalogram
(EEG).
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