[P1-182] Unusual autopsy findings of infantile Alexander disease with survival of 39 years
Patients with infantile Alexander disease (AD) are recognized to survive for several years but usually not beyond the early teens without life-support because of progressive central hypoventilation. We report an autopsied case of a female patient with infantile AD carrying a R239C mutation in the GFAP gene who survived 39 years. She presented with psychomotor retardation in infancy and regressed after age 5. Brain CT scans showed bilateral low density of the frontal white matter. She became quadriplegic with bulbar palsy and intellectually handicapped after having measles at age 7. Tube feeding was introduced because of dysphagia at age 15. Non-invasive positive pressure ventilation was required due to central hypoventilation in her early 30s. She died of neurogenic respiratory failure at age 39. The whole brain was markedly atrophic (709 g, -6.0 SD), especially prominent in the frontal lobe, cerebellum and brainstem. The volume ratio of the cerebellum to total brain was 3.3%. As well as demyelination, gliosis and cystic lesions of the remaining brain, Rosenthal fibers accumulating in the perivascular spaces were clearly demonstrated. It is notable that a variety of abnormalities in the abdominal organs were also identified such as pancreatic necrosis, completely desquamated epithelium in the lower esophagus and stomach, foreign-body giant cells in the colon submucosa, glomerular sclerosis and multiple bladder stones. This is the first autopsied case report on the infantile AD patient with long survival who showed not only characteristic findings of central nervous system but also unexpected findings of other organs.