INFANTILE-ONSET SPINOCEREBELLAR ATAXIA - MR AND CT FINDINGS

PURPOSE: To report the MR and CT findings in a hereditary disease, inf antile-onset spinocerebellar ataxia (IOSCA). METHODS: We studied the b rains of 17 patients with infantile-onset spinocerebellar ataxia with CT and/or MR to determine the presence of cerebellar and brain stem at rophy and parenchymal lesions. RESULTS: Cerebellar cortical atrophy wa s seen in 13 patients. The degree of atrophy correlated with increasin g age and clinical deterioration. Brain stem atrophy was seen in 8 pat ients, It was never severe, and the basis pontis was not flattened eve n in the most severe cases. Hyperintense lesions were noted within the white matter of cerebellum, in the dentate nuclei, and in the middle cerebellar peduncles in 3 patients. The upper cervical cord was seen i n 9 patients and showed mild to moderate atrophy in 4. The basal gangl ia and cerebral hemispheres were normal, except in 2 patients transien t cortical and subcortical lesions developed during episodes of status epilepticus; mild cortical brain atrophy subsequently developed. CONC LUSION: The brain MR and CT findings of patients with infantile-onset spinocerebellar ataxia correspond to the neuropathologic entities of c erebellar cortical atrophy, olivopontocerebellar atrophy, and spinocer ebellar atrophy. The appearance of the findings followed a uniform tim e sequence from cerebellar cortical atrophy in the early stage of the disease to olivopontocerebellar atrophy and spinocerebellar atrophy in the later stage. The severity of atrophy correlated with clinical det erioration.