Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene

Alexander disease is a progressive disorder characterized by macrocephaly, a frontal-occipital progression of MRI signal abnormalities, and the presence of Rosenthal fibers in the CNS.1-4⇓⇓⇓ Recently, Alexander disease has been associated with mutations in the glial fibrillary acidic protein (GFAP) gene, a member of the evolutionarily conserved intermediate filament (IF) family of genes.1-3⇓⇓ The authors describe rare findings in a case of infantile Alexander disease with rapid clinical deterioration and unique MRI progression in a patient with a novel GFAP mutation. A full-term boy of mixed Philippine and western European ancestry died at 38 days of life after prolonged seizures and respiratory failure. The mother had raised concerns about the neonate’s poor feeding on the first day of life. On day 5, the baby presented to the pediatrician with emesis and poor feeding. On day 9, the child was seen in an emergency room for emesis. On day 13, the child …