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Washington University Experience | METABOLIC | Neuronal Ceroid Lipofuscinosis (NCL) | 2A0 Case 2 History
Case 2 History ---- This patient had a strong family history of autosomal dominant adult neuronal ceroid lipofuscinosis (Kufs disease, same family as case #1 above). His mother developed symptomatic Kufs disease at age 34 with generalized seizures and myoclonus, followed by cognitive decline and dementia and died at age 51. She was first seen in the MAP in 2006 (at age 30) and was normal neurologically. She was rated CDR 0, no dementia. She was seen again in 2008 (age 33) without neurologic abnormality. At age 36 for approximately 6-12 months prior, she had experienced episodes of multicolored visual hallucinations which began suddenly and were reported as “pulsing red, blue and green lights”, lasting 5 minutes. In the 6 months prior to the assessment, she noted occasional myoclonic jerks in both upper extremities. Three weeks prior to the next assessment, she “lost vision” while driving an automobile which culminated in a traffic accident. The neurologic examination was entirely unremarkable and she was rated cognitively normal (CDR 0). Aan EEG showed bilateral epileptiform discharges. In 2013 (age 37) she was driving and lost control of her car, hit several trees and died at the scene. In summary, this patient experienced a series of seizures by age 36 with no other signs of illness.
