A 49-year-old woman with poorly controlled hypertension was admitted to our hospital for sudden memory deficit. Her daughter noticed that she repeatedly asked about the time for lunch on the day before admission and her inability to recall storylines on television programs. However, the patient recognized her daughter and other family members. She did not experience fatigue, fever, or diarrhea before the onset of amnesia. Her memory impairment was persistent. Headaches, convulsions, or limb movement disorders were absent. She had no history of smoking, drinking, trauma, drug abuse, or exposure to toxins. The findings of the neurological examination were unremarkable, except for the reduction in memory and calculation abilities, which manifested as the inability to recall incidents that occurred minutes ago, along with reiterations of the same questions. Her Mini-Mental State Examination score was 21, with deficits in the immediate memory (0/3), recall (0/3), and calculation (2/5) categories. The result of the Montreal Objective Cognitive Assessment was normal, with the exception of recall and calculation.The patient's blood pressure at admission was 170/105 mm Hg. Serum total cholesterol and low-density lipopro-
Introduction: Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disease characterized by recurrent dyskinesia or choreoathetosis triggered by sudden movements. Pathogenic variants in PRRT2 are the main cause of PKD. However, only about half of clinically diagnosed PKD patients have PRRT2 mutations, indicating that additional undiscovered causative genes could be implicated. PKD associated with POLG variant has not been reported. Patient concerns: A 14-year-old boy presented with a 2-month history of involuntary dystonic movements triggered by sudden activities. He was conscious during the attacks. Neurological examination, laboratory tests, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) were all normal. Genetic analysis showed a novel variant of POLG (c.440G>T, p.Ser147Ile), which was considered to be a likely pathogenic variant in this case. Diagnoses: The patient was diagnosed with PKD. Interventions: Low dose carbamazepine was used orally for treatment. Outcomes: The patient achieved complete resolution of symptoms without any dyskinesia during the 6-month follow up. Conclusion: Our study identified the novel POLG variant (c.440G>T, p.Ser147Ile) to be a likely pathogenic variant in PKD.
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