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Published on: August 16, 2024
Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide
Ayako Itakura1, Yoshiaki Saito1, Yoko Nishimura1
1Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
Insights
This study reports the first case of Wolf-Hirschhorn syndrome presenting with migrating partial seizures. Treatment with phenobarbital and potassium bromide effectively controlled the epilepsy in this patient.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder associated with developmental delays and distinctive facial features.
- Epilepsy is a known complication of WHS, but the specific seizure types and migratory patterns are not well-characterized.
Observation:
- A 10-month-old girl with mild psychomotor developmental delay presented with hemiclonic convulsions.
- Seizure activity evolved into bilateral tonic seizures and status epilepticus, characterized by migrating ictal EEG findings from temporal to frontal regions.
- The patient exhibited characteristic facial features suggestive of WHS.
Findings:
- Genetic analysis confirmed a 2.1-Mb terminal deletion on chromosome 4p, diagnosing WHS.
- The patient's epilepsy featured migrating partial seizures, a novel presentation within WHS.
- Phenobarbital and potassium bromide provided complete seizure control within 10 days.
Implications:
- This case expands the phenotypic spectrum of WHS, highlighting migrating partial seizures as a potential manifestation.
- Early diagnosis and appropriate anti-epileptic drug management are crucial for controlling seizures in WHS patients.
- Further research is warranted to understand the neurobiological mechanisms underlying epilepsy in WHS.
Abstract:
A girl with mild psychomotor developmental delay developed right or left hemiclonic convulsion at 10months of age. One month later, clusters of hemiclonic or bilateral tonic seizures with eyelid twitching emerged, resulting in status epilepticus. Treatment with phenobarbital and potassium bromide completely terminated the seizures within 10days. Ictal electroencephalography revealed a migrating focus of rhythmic 3-4Hz waves from the right temporal to right frontal regions and then to the left frontal regions. Genetic analysis was conducted based on the characteristic facial appearance of the patient, which identified a 2.1-Mb terminal deletion on chromosome 4p. This is the first case of Wolf-Hirschhorn syndrome complicated by epilepsy with migrating partial seizures.
