A 31-year-old woman was referred to our outpatient clinic for frequent seizures that were becoming more difficult to control. The patient had tonic-clonic seizure onset at the age of 27 years, and her condition gradually progressed despite treatment with carbamazepine. She experienced vision impairment at the age of 11 years, and her vision level decreased to only light perception OU within a few years. During this time, she developed an unsteady walking pattern and ambiguous speech.
Yu W, Cao L, Lin P. Neuronal Ceroid Lipofuscinosis Owing to Complete Maternal Uniparental Disomy. JAMA Neurol. 2022;79(7):720–721. doi:10.1001/jamaneurol.2022.1008
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