Abstract
INTRODUCTION: Alexander disease is a rare disorder resulting from a glial fibrillary acidic protein gene mutation which causes progressive degeneration of white matter. With the usual poor prognosis, there are few case reports with long-term follow-up. We report the five-year clinical course of Alexander disease in one case using serial magnetic resonance imaging. CASE PRESENTATION: A 12-month-old Japanese male was referred to the pediatrics department in our hospital because of developmental retardation. Alexander disease was diagnosed by gene examination of the mutation of a glial fibrillary acidic protein. Magnetic resonance imaging findings showed abnormalities in white matter, deep gray matter, and medulla oblongata. Serial magnetic resonance imaging examinations until the age of five were performed and changes in magnetic resonance imaging findings were compared to the progression in clinical symptoms. CONCLUSION: Alexander disease is a very rare disease with a variety of clinical phenotypes. Therefore serial magnetic resonance imaging studies for long-term survival infantile cases including our case may be important in the analysis of the pathophysiological mechanism.