Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia

J Paprocka; B Rzepka-Migut; N Rzepka; A Jezela-Stanek; E Morava

doi:10.2478/bjmg-2019-0017

Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia

Balkan J Med Genet. 2019 Dec 21;22(2):77-82. doi: 10.2478/bjmg-2019-0017. eCollection 2019 Dec.

Authors

J Paprocka¹, B Rzepka-Migut², N Rzepka², A Jezela-Stanek³, E Morava⁴

Affiliations

¹ Department of Paediatric Neurology, School of Medicine, Medical University of Silesia, Katowice, Poland.
² Department of Paediatric Neurology, St. Queen Jadwiga's Regional Clinical Hospital, No. 2, Rzeszów, Poland.
³ Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
⁴ Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA.

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).

Keywords: Alexander disease (AxD); Children; Macrocephaly.