Abstract Background: Huntington’s disease (HD) is a neurodegenerative disorder characterized by dominant inheritance, choreoathetosis, cognitive decline, and psychiatric disturbances. Juvenile HD (JHD) is very rare, and only a few cases have been reported globally. Clinical Description: A 14-year-old girl was brought by mother with complaints of frequent falls, dropping of objects, involuntary jerks, and a significant deterioration in academic performance for the last 2 years. A significant family history of similar complaints were noted in five other family members spanning over three generations. On examination, her vital signs were within normal limits. Her intelligence quotient was 70, and she had a rigid and wide-stepping, ataxic gait with hypertonia with hyperreflexia. Management and Outcome: Magnetic resonance imaging showed atrophy of the bilateral caudate lobes leading to expansion of the frontal horn of the lateral ventricles and bilateral hyperintensities along the putamina. Fluorescent-labeled triplet repeat primed polymerase chain reaction for CAG (Cytosine, Adenine, Guanine) repeats in the Huntingtin gene showed triplet repeat size of 13 in allele 1 and 74 in allele 2, indicating that she was heterozygous and in disease range; hence, the diagnosis of Juvenile Huntington’s disease was confirmed. She was started on tetrabenazine, and the family was counseled regarding the prognosis. She is currently under physiotherapy. Conclusion: A neurodegenerative condition with onset in adolescence could be due to JHD. This case highlights the need for supporting and encouraging a family with a progressive neurological disorder to ensure a diagnosis is reached.
Muralidhar et al. (Wed,) studied this question.
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