Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review.

摘要: Hyperekplexia (HE), or startle disease, is usually a familial disorder associated with mutations in the glycine receptor alpha1 subunit gene (GLRA1), characterised by exaggerated reactions to unexpected auditory, somaesthetic and visual stimuli. Non-familial cases may be idiopathic, pathology brainstem rarely supratentorial compartment. The pathophysiological basis of HE unclear. We report case 40-year-old woman presenting excessive response stimuli falls since age 16 years. There was no family history. She initially diagnosed epilepsy started on phenytoin resolution her symptoms. Clinical examination revealed hyperreflexia an insecure broad-based gait but other abnormalities. Routine comprehensive neuropsychological assessment below average intelligence signs frontal lobe dysfunction. EEG showed non-specific abnormalities right central regions. A (99m)Tc-HMPAO SPET scan hypoperfusion (worse right) temporal lobes lesser extent basal ganglia. MRI normal, as well blood CSF tests. No were found genetic analysis GLRA1. patient improved partially treatment clonazepam. localisation clinical findings accord our corroborates previous reports. Appropriate testing functional imaging enable more accurate delineation phenotype this rare disorder.