Juvenile Huntington’s Disease: A Case Report and a Review of Diagnostic Challenges

Juvenile Huntington’s Disease (JHD) is a rare variant of the hereditary neurodegenerative disorder disease (HD). Clinical symptoms in JHD are broad and non-specific, making initial diagnosis difficult. In this report, we describe young Hispanic male who gradually developed cognitive decline, dystonia, seizures. His was delayed despite multiple visits to his pediatrician, developmental specialist, neurologist. A history regression unusual imaging findings prompted genetic testing, which led JHD. Though changes striatum on MRI hallmarks JHD, family often provide most important diagnostic clues. Careful history-taking patients with non-specific neurological exam findings, as can prevent delays allow for early interventions improve quality life.