Abstract
Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder with a progressive decline in cognitive, motor, and psychological function. Chorea tends to be the most common associated movement disorder, although other variants of several abnormal movements are also seen. Adult-onset HD is the most common subtype. Juvenile Huntington's disease (JHD) accounts for 5%–10% of all HD cases and presents as a rapidly progressive disorder with a multitude of characteristics. We report on a 9-year-old male with JHD who presented with refractory epilepsy. His EEG findings, seizure type, and antiepileptic drug usage are discussed with a brief review of the currently available relevant literature. The currently reported case sheds light on antiepileptic drugs that proved effective in our patient and the importance of screening for JHD when a child presents with seizures that are difficult to control.
Highlights
Huntington’s disease (HD) is a rare genetic disorder that is inherited in an autosomal dominant pattern often from the patients' paternal side
We report on a 9-year-old male with Juvenile Huntington’s disease (JHD) who presented with refractory epilepsy
The currently reported case sheds light on antiepileptic drugs that proved effective in our patient and the importance of screening for JHD when a child presents with seizures that are difficult to control
Summary
Huntington’s disease (HD) is a rare genetic disorder that is inherited in an autosomal dominant pattern often from the patients' paternal side. Several months after the accident, his family reported some nonspecific yet concerning symptoms, including being offbalance, frequent falling, remarkable changes in his mood, and overall easy fatigue and tiredness He had trouble with small hand musclesfunctions, such as using a fork, knife, or spoon, and holding pens, pencils, and crayons. Molecular testing of exon 1 of the HIT gene showed 103 CAG repeats of full penetrance consistent with JHD He presented to our emergency department at the age of 9 years old because of numerous episodes of generalized onset tonic-clonic seizures and severe abdominal pain. He was started on antiseizure medications, including levetiracetam, oxcarbazepine, clobazam, and clonazepam as needed for spasms and prolonged seizures His physical exam was evolving with expressive and receptive language delay (nonverbal), truncal hypo tonicity, spastic extremities with cogwheel rigidity, and worsening tremors in the upper extremities. His follow-up EEG showed rare and independent spike and wave discharges over the central and temporal regions suggesting cortical hyper
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