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Washington University Experience | METABOLIC | Neuronal Ceroid Lipofuscinosis (NCL) | 5A0 Case 5 History
Case 5 History ---- In 1986, at age 35, this patient first visited the Washington University Memory Diagnostic Center (MDC) for evaluation. There was a history in her family through three generations of an illness with apparent autosomal dominant transmission that was characterized by generalized tonic clonic seizures developing in the fourth decade of life and accompanied by gradual cognitive and motoric deterioration. Death typically occurred in this family at age 50. This patient had undergone EEG screening while still asymptomatic at age 32; apparently, the exam was "abnormal" and phenytoin was initiated. Shortly thereafter she experienced involuntary movements affecting the left upper extremity and by 1985 developed left lower extremity paresthesias. At the time of the MDC evaluation, she complained of forgetfulness of three months duration, manifested by misplacing objects. She also complained of mild dysphagia. The examination revealed stuttering speech with dysnomia. There was mild dysgraphia with misspelling and diminished auditory and reading comprehension. The next MDC evaluation was in 2/88; she complained of increasing memory loss. She was admitted to an OSH in October 1989 for generalized tonic-clonic seizures; In June 1992, a skin biopsy was performed at BJH and showed membrane bound lysosomal cytoplasmic inclusions, consistent with adult onset NCL (Kufs disease). She required a housekeeper to assist her at home because of "memory deteriorating further". She recalled only 1 of 3 items in a memory test and had diffuse myoclonus. By April 1999, she had myoclonus and had been in a nursing home for a month. Speech and vision were said to be deteriorating. She was extremely bradykinetic. She was unable to speak without stuttering and her speech output was largely incomplete phrases. Four months later she was unable to remember that she had experienced multiple seizures or her medications and was no longer ambulatory. She was briefly admitted to a hospital in November 1999 for seizure control. Visual hallucinations occurred and were treated with Risperdal. She was mute. She experienced more seizures beginning in April 2000 and apparently developed status epileptics in May 2000. Shortly thereafter she died of a cardiopulmonary arrest at age 49 years with profound dementia (CDR 3)
