FAMILIAL INFANTILE OLIVOPONTOCEREBELLAR ATROPHY

Infantile olivopontocerebellar atrophies are rare progressive, fatal, neurologic conditions characterized pathologically by loss of neurons and gliosis in the cerebellum, pens, and inferior olivary nuclei in ea rly life, The clinical and pathologic features of 2 brothers who prese nted in early infancy with failure to thrive and neurologic deteriorat ion leading to death by the age of 5 months are reported, Magnetic res onance imaging of the brain of Patient 1 disclosed progressive pontoce rebellar atrophy. Both siblings had identical patterns of neuronal los s consistent with olivopontocerebellar atrophy at postmortem examinati on. Serum biochemical abnormalities of low thyroid binding globulin, h ypoalbuminemia, and low cholesterol, suggestive of the carbohydrate-de ficient glycoprotein syndrome, were also present in both patients.