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Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood
A Tomoda1, M Ikezawa, Y Ohtani
1Department of Child Development, Kumamoto University Medical School, Japan.
Insights
Hereditary dentato-rubro-pallido-luysian atrophy (DRPLA) can cause progressive myoclonus epilepsy (PME). Detailed family history is crucial for diagnosing DRPLA in PME patients, especially in Japan.
Area of Science:
- Neurology
- Genetics
- Neurodegenerative Diseases
Background:
- Progressive myoclonus epilepsy (PME) is a group of rare neurological disorders.
- Dentato-rubro-pallido-luysian atrophy (DRPLA) is a rare, autosomal dominant neurodegenerative disorder.
Observation:
- A case of PME in a 22-year-old female was suspected to be caused by DRPLA.
- Family members exhibited symptoms including myoclonus, seizures, dementia, ataxia, and choreoathetosis.
- Neuroimaging (CT and MRI) revealed cerebral and cerebellar atrophy with fourth ventricle dilatation.
Findings:
- The clinical and imaging findings were consistent with DRPLA.
- The varied onset of symptoms within the family suggested a hereditary pattern.
- DRPLA should be considered in the differential diagnosis of PME, particularly in pediatric cases.
Implications:
- A thorough family history is essential for diagnosing PME patients.
- Early diagnosis of DRPLA can facilitate genetic counseling and management.
- This case highlights the importance of considering DRPLA in the differential diagnosis of PME in Japan.
Abstract:
A 22-year-old female with progressive myoclonus epilepsy (PME) considered to be due to hereditary dentato-rubro-pallido-luysian atrophy (DRPLA) was reported. Some of her family members showed progressive myoclonus, seizures, dementia, ataxia and choreoathetosis, with variation of onset from childhood to adult life, which suggested that they had been suffering from DRPLA. CT scan and MRI studies, including some on family members, revealed cerebral and cerebellar atrophy accompanied by dilatation of the fourth ventricle, compatible with the findings in DRPLA reported previously. We emphasize that a detailed family history may be essential in dealing with a PME patient and that DRPLA should be considered in the differential diagnosis of the PME syndrome with onset in childhood, in Japan.