AIM: To report a patient with Huntington's disease, confirmed by a molecular genetic study, presenting with clinical features suggesting Tourette's syndrome. CASE REPORT: A thirty-years male with personal antecedents of perinatal hypoxia, but normal development; and family history (paternal grandfather) of 'abnormal repetitive movements of the upper limbs' of adult onset. He had multiple motor tics since teenage, and associated vocal tics, bruxism, and compulsions with auto-and heteroaggresivity. Neurological examination showed motor tics in the orolingual area and occasional vocal tics. Neuropsychological examination showed a mild impairment of short-term memory and language. Analytical studies including blood smears to see acanthocytes and copper metabolism studies were normal, as it was a MRI imaging. The molecular genetic study of the patient showed 46 repeats of CAG triplets in the exon 1 of the IT-15 genes, while his father (who was asymptomatic) showed 40 repeats. It was not possible to study the paternal grandfather. CONCLUSIONS: The clinical onset of Huntington's disease mimicking Tourette's syndrome is infrequent. This diagnosis should be taken in mind in patients with possible Tourette's syndrome and atypical neuropsychiatric features.
AIM: To report a patient with Huntington's disease, confirmed by a molecular genetic study, presenting with clinical features suggesting Tourette's syndrome. CASE REPORT: A thirty-years male with personal antecedents of perinatal hypoxia, but normal development; and family history (paternal grandfather) of 'abnormal repetitive movements of the upper limbs' of adult onset. He had multiple motor tics since teenage, and associated vocal tics, bruxism, and compulsions with auto-and heteroaggresivity. Neurological examination showed motor tics in the orolingual area and occasional vocal tics. Neuropsychological examination showed a mild impairment of short-term memory and language. Analytical studies including blood smears to see acanthocytes and copper metabolism studies were normal, as it was a MRI imaging. The molecular genetic study of the patient showed 46 repeats of CAG triplets in the exon 1 of the IT-15 genes, while his father (who was asymptomatic) showed 40 repeats. It was not possible to study the paternal grandfather. CONCLUSIONS: The clinical onset of Huntington's disease mimicking Tourette's syndrome is infrequent. This diagnosis should be taken in mind in patients with possible Tourette's syndrome and atypical neuropsychiatric features.