Clinical Reasoning: A case of ataxia, seizure, and choreoathetosis in a 34-year-old woman

A 34-year-old woman of Chinese Han descent was admitted to the neurology department after complaining of gait instability for 20 years and seizure attacks for 6 years. At age 14, she began experiencing slurred speech and unsteady gait. Meanwhile, she had learning difficulties and her academic performance was poor. Since then, her intelligence regressed gradually. At age 28, she developed recurrent generalized tonic-clonic seizures and myoclonus refractory to valproic acid and oxcarbazepine. She developed choreoathetosis at age 29. In the following years, the seizures and choreoathetosis progressively worsened. Two years later, she could no longer walk independently due to postural instability caused by ataxic gait. Concurrently, she presented with mild cognitive impairment and memory loss. Medical, birth, and family histories were noncontributory; no other family members were known to be affected.
Source: Neurology - Category: Neurology Authors: Tags: Gait disorders/ataxia, Chorea, Myoclonus RESIDENT AND FELLOW SECTION Source Type: research