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Washington University Experience | METABOLIC | Neuronal Ceroid Lipofuscinosis (NCL) | 10A0 Case 10 History
Case 10 History ---- This woman was a member of a large kindred with familial adult-onset neuronal ceroid lipofuscinosis (Kufs disease) followed at the Washington University Memory Diagnostic Center (MDC). Her mother, maternal grandmother, and a maternal aunt developed symptoms in their late 30s. Her initial MDC visit (January 1992, age 35) resulted from the new onset of seizures. She had been driving at the time and drove one person off the road before getting to her driveway, honking her horn and losing consciousness. She had a shaking tremor/seizure for 5 minutes which the patient thought was evidence of the beginning of Kufs disease. Head CT, basic blood chemistry, and the neurological examination were unremarkable. At a subsequent visit to MDC in 1994, her cognitive status was considered to be normal (CDR = 0). Myoclonus was noted in both upper extremities at the March 1994 MDC visit and by August 1997 involved the left face. She had monotonous affect and diminished spontaneity. She was still driving in 1998, but her husband considered her unsafe (one car was written off in 1997 and she rear-ended a car in 1998). She was fully independent in self care. In June 1998 a skin biopsy was performed confirming the Kufs diagnosis. In July 1998, this individual, her brother (who also had symptoms of Kufs), and her sister came to the MDC for evaluation. Her husband reported that she had developed gradually progressive forgetfulness in the past 2 years. She relinquished her job as an LPN in 2/1998 as she was experiencing unaccustomed difficulties in performance. There were problems with balance and falls. The MDC neurological examination revealed perioral myoclonus, cogwheel rigidity of both upper extremities, slightly masked facies, and end-target tremor on finger-to-nose. Gait was abnormal with bilaterally diminished arm swing and somewhat slow pace. There was a positive jaw jerk, bilateral facial jerks and a right Hofmann’s sign. She was rated mildly demented (CDR = 0.5); the diagnosis was familial adult-onset neuronal ceroid lipofuscinosis (Kufs disease). In April 2004 her cognition had declined since the 1998 appointment and she was living under the care of her sister. She was placed in a nursing home in her hometown later that year. She had resting tremor of both upper extremities, hallucinations (saw “things” coming from the ceiling; “saw” her sister and her children in the closet); and behavior/personality changes (lashed out and threw things, said hurtful things to family members). She eventually required total care. She became mute in the last month of life and ceased eating and drinking. She died in 2007 of inanition. In summary, she had a 15 year course of gradual cognitive and functional deterioration that was initiated by new-onset generalized tonic-clonic seizures; she also developed extrapyramidal dysfunction, myoclonus, and psychosis.
