Case of dementia and myoclonia in an adult associated with anomalies in polyunsaturated fatty acids in leukocytes and peripheral nerve. An ultrastructural study of peripheral nerve.

We report a case of a 66-year-old patient presenting with abnormal movements and associated dementia. Death occurred 4 years after the onset of symptoms. In spite of the lack of autopsy results, the picture was one of late onset neuronal ceroid lipofuscinosis (Kufs' disease). Ultrastructural study of a peripheral nerve biopsy sample indicated a process of demyelination associated with unusual inclusions in Schwann cell cytoplasm. Biochemical analysis of the same sample and leukocytes showed considerable alterations in polyunsaturated fatty acid levels. These findings are discussed in the light of work on cases of infantile neuronal ceroid lipofuscinosis.