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Washington University Experience | METABOLIC | Neuronal Ceroid Lipofuscinosis (NCL) | 11A0 Case 11 History
Case 11 History ---- The patient was a 21 year old woman with juvenile NCL (Batten's disease). She was born at full term by normal spontaneous vaginal delivery. She had delayed milestones including walking bat 30 months of age, and delayed language development. When she was in kindergarten she was tested and found to have borderline normal intelligence. At the age of 8 she had her first seizure. From this time on she continued to have progressively worsening gait, speech, and visual acuity. She had an ECG which revealed decreased amplitude and prolonged latencies. In 1985 she underwent two rectal biopsies that were normal. In 1986 she had optic atrophy with diffuse retinopathy. She also had a conjunctiva! biopsy which revealed fingerprint inclusions in the endothelial cells and lymphocytes, diagnostic of neuronal ceroid lipofuscinosis. She continued to have seizures and was on Tegretol, Gabapentin, Klonopin, Phenobarbital, and Amantidine. She was admitted in 12/94 with increasing seizures. She expired in January 1995 of cardiorespiratory failure.
