Purpose: To report the MR and CT findings in a hereditary disease, infantile-onset spinocerebellar ataxia (IOSCA).
Methods: We studied the brains of 17 patients with infantile-onset spinocerebellar ataxia with CT and/or MR to determine the presence of cerebellar and brain stem atrophy and parenchymal lesions.
Results: Cerebellar cortical atrophy was seen in 13 patients. The degree of atrophy correlated with increasing age and clinical deterioration. Brain stem atrophy was seen in 8 patients. It was never severe, and the basis pontis was not flattened even 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 in 9 patients and showed mild to moderate atrophy in 4. The basal ganglia and cerebral hemispheres were normal, except in 2 patients transient cortical and subcortical lesions developed during episodes of status epilepticus; mild cortical brain atrophy subsequently developed.
Conclusion: The brain MR and CT findings of patients with infantile-onset spinocerebellar ataxia correspond to the neuropathologic entities of cerebellar cortical atrophy, olivopontocerebellar atrophy, and spinocerebellar atrophy. The appearance of the findings followed a uniform time 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 deterioration.