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Aug 4, 2023Keywords:
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Huntington’s disease in a 31-year-old Ethiopian patient: A case report and a brief literature review
Abstract
Background: Huntington’s disease is an inherited progressive neurodegenerative disorder characterized by choreiform movements, neuropsychiatric features, and cognitive impairment which leads to significant functional disability and caregiver burden. It is caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the huntingtin (HTT) gene on chromosome 4p and inherited in an autosomal-dominant pattern. We report the clinical and genetic characteristics of a patient with Huntington's disease with strong family history.
Case report: We report a case of a 31-year-old female with two years history of involuntary limb and trunk movements which were exacerbated by stress and disappeared during sleep. The symptoms gradually worsened with associated dysarthria, behavioral and mood abnormalities. She had a strong positive family history of similar illness with the involvement of both her siblings and three deceased family members. Her routine laboratory investigations were unremarkable. Brain magnetic resonance image (MRI) showed severe bilateral caudate and putaminal atrophy with ballooning of the adjacent lateral ventricle. Her genetic test identified a CAG repeat expansion of 48. The patient was started on Valproate and began follow-up at a Psychiatric unit as well, but she has only mild improvement in symptoms.
Conclusion: The present case highlights, the importance of genetics tests in the early diagnosis of Huntington’s disease in resource-limited settings and multidisciplinary intervention to improve patient’s quality of life.
