A Case of Huntington's Disease with Generalized Seizure and Prominent Family History of the Disease / 신경정신의학

ABSTRACT

Huntington's disease(HD), an autosomal dominant disorder, is characterized by progressive involuntary choreiform movement, psychiatric symptoms, and dementia. We experienced a 44-year-old male HD patient with prominent family history of the disease who showed dementia and involuntary movements including chorea. The diagnosis was made by clinical symptoms, family history of the disease, and brain MRI findings to show bicaudate atrophy and diffuse cortical atrophy with marked ventricualr dilatation. Interestingly, the patient frequently exhibited generalized tonic-clonic seizures. The seizures first appeared about 3 to 4 years after the onset of HD and were controlled with valproic acid. To our knowledge, this may be the first case of lateonset HD accompanied by generalized seizures and we report this case with literature review.