Diagnosesicherung des Morbus Alexander in vivo durch Mutationsanalyse des GFAP-Gens

Case report. We report an infant diagnosed as having infantile Alexander disease because of the clinical presentation with macrocephaly, seizures and developmental delay and the typical MRI findings of frontotemporal white matter lesions. In accordance to the recently described association between mutations in the GFAP (glial fibrillary acidic protein) gene and Alexander disease, GFAP was sequenced.A heterozygous de novo mutation of the GFAP gene (R239H) was found in our patient. Conclusion. Molecular genetic analysis enabled an early and non-invasive diagnosis in vivo.