Pearls & Oy-sters: Epilepsy Is a Key Feature of Pediatric-Onset Huntington Disease
Dawn B Lammert1, Jee Bang2, Carl E Stafstrom2
1From the Department of Neurology (D.B.L., C.E.S.), Division of Pediatric Neurology, Johns Hopkins University School of Medicine; and Department of Neurology (J.B.), Johns Hopkins University School of Medicine, Baltimore, MD. dlammer2@jhmi.edu.
Insights
Pediatric-onset Huntington disease (PoHD) often involves epilepsy, unlike adult forms. A case study highlights how continuous video electroencephalography diagnosed seizures in a child with PoHD, differentiating them from other movement disorders.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Pediatric-onset Huntington disease (PoHD) has distinct clinical manifestations compared to adult-onset Huntington disease.
- Children with PoHD frequently experience school performance regression, psychiatric issues like inattention, and oral motor dysfunction.
- Epilepsy is common in PoHD, with at least half of affected children developing seizures, which can be an initial symptom.
Observation:
- A 10-year-old boy presented with a first-time seizure, alongside a history of language delay, motor regression, oral motor dysfunction, and tremor.
- A family history of Huntington disease prompted consideration of PoHD.
- Genetic testing confirmed a pathogenic allele with 88 repeats, diagnosing the child with PoHD.
Findings:
- As the child's symptoms evolved, distinguishing abnormal movements from seizures based on history alone became challenging.
- Continuous video electroencephalography (EEG) was crucial in identifying epileptic myoclonic jerks.
- The EEG findings guided the subsequent treatment strategy for the patient.
Implications:
- This case underscores the significant prevalence of epilepsy in pediatric-onset Huntington disease.
- Continuous video EEG is a valuable tool for accurate diagnosis and management of seizures in children with PoHD.
- Early and precise diagnosis is essential for effective treatment and improved outcomes in pediatric Huntington disease patients.
Abstract:
Pediatric-onset Huntington disease (PoHD) presents differently from adult-onset disease. Children typically exhibit regression in school performance, psychiatric features such as inattention, and oral motor dysfunction. Unlike adult-onset HD, in which seizures occur at approximately the rate of the general public, at least half of children with HD develop epilepsy, and seizures can be a presenting feature of PoHD. Here we present the case of a 10-year-old boy with a history of language delay, motor regression, oral motor dysfunction, and tremor who presented with a first lifetime seizure. Given a family history of Huntington disease in his father, PoHD was considered, and a pathogenic allele with 88 repeats was confirmed in the child. As symptoms progressed, history alone could not differentiate abnormal movements from seizures. Continuous video electroencephalography helped to demonstrate epileptic myoclonic jerks and guide treatment.
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