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Images in Neurology
May 16, 2022

Neuronal Ceroid Lipofuscinosis Owing to Complete Maternal Uniparental Disomy

Author Affiliations
  • 1Cheeloo College of Medicine, Department of Neurology, Qilu Hospital, Shandong University, Jinan, China
  • 2University of Health and Rehabilitation Sciences, Qingdao, China
  • 3Department of Neurology, Qilu Hospital of Shandong University, Jinan, China
JAMA Neurol. 2022;79(7):720-721. doi:10.1001/jamaneurol.2022.1008

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.

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