The diagnosis of the childhood forms of neuronal ceroid lipofuscinosis is considered when a child presents with seizures, dementia, and pigmentary change in the retina. A diagnosis is based on the result of skin or conjunctival biopsy. We report two children who had CTs obtained at the onset of seizures and prior to the occurrence of intellectual deterioration or retinal pigmentary changes. In both cases, the CT showed marked enlargement of the fourth ventricle and cerebellar atrophy without concomitant cerebral atrophy. We suggest that this cerebellar atrophy may be an early sign of ceroid lipofuscinosis and may be of particular note when seen on the CT scan of a child with a recent onset of seizures.
ASJC Scopus subject areas
- Clinical Neurology