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Washington University Experience | METABOLIC | Neuronal Ceroid Lipofuscinosis (NCL) | 1A0 Case 1 History - Copy
Case 1 History ---- This individual was a member of a family with autosomal dominantly inherited dementia, diagnosed on clinicopathological grounds as adult neuronal ceroid lipofuscinosis, or Kufs disease (PMID: 11489285). His maternal grandmother, a maternal aunt, and his mother all were affected between 32-40 years of age, manifested as new-onset generalized tonic-clonic seizures, followed by progressive decline in cognitive and motoric function that resulted in total disability and death, generally 10 or more years after onset. This patient’s seizures began at 37 years of age. At an ADRC evaluation his wife reported that for 2 years he had been forgetful, repetitive, and neglectful of his duties in caring for their farm animals. Neurological examination largely was unremarkable except for very mild ataxic tremor in both upper extremities. The diagnosis was very mild dementia (CDR 0.5) caused by Kufs disease. He entered assisted living at age 45 because he increasingly required supervision (e.g., with medications) and assistance with dressing and bathing. He developed visual hallucinations and became belligerent with the staff at the facility, prompting treatment with risperidone and lithium. At age 47 he was unable to perform cognitive testing because of inability to register or comprehend instructions. He had notable latency of response to questions. The neurological examination now revealed cogwheel rigidity, hypomimia, ataxic tremor of both upper extremities, stooped posture, and retropulsion. The parkinsonian features were attributed in part to risperidone, which with lithium was discontinued by his physician in favor of quetiapine. He no longer recognized his sister and believed that his deceased mother was alive. He apparently became blind; two other relatives affected by Kufs disease also reportedly became blind late in their illness. He required total care. He died of inanition at age 50 after a 13 year course of an illness presenting with new onset seizures followed by progressive cognitive, motoric, and functional decline. The features of his illness are consistent with the clinical phenotype of Kufs disease in his family
