乳児期に発症した若年性歯状核赤核淡蒼球ルイ体萎縮症（ＤＲＰＬＡ）の姉妹例―経時的脳波変化の検討―

DOI 参考文献13件

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タイトル別名
  • Electroencephalographic Changes in Sisters with Infantile-Onset Dentatorubral-Pallidoluysian Atrophy (DRPLA)
  • 経時的脳波変化の検討

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We report the clinical course and results of electroencephalographic (EEG) examinations in 2 sisters with infantile dentatorubral pallidoluysian atrophy (DRPLA).<BR>Typical development was seen until the age of 6 months. From that age, however, development was delayed. The elder sister experienced astatic seizure at the age of 3 years. She began to deteriorate and had difficulty in controlling her body movement at the age of 3 years and 7 months.<BR>Magnetic resonance imaging revealed marked cerebellar atrophy and genetic analysis of the DRPLA gene led to a diagnosis of DRPLA. Repeat size of the CAG base sequence was 86/19. Neurological deterioration was rapid and controlling convulsions using antiepileptic drugs was difficult. EEG was characterized by high-voltage slow waves and poor development of basic wave through the follow-up period.<BR>In contrast, the younger sister showed only mild developmental delay, and could stand independently at the 2 years and 9 months. Repeat size of the CAG base sequence was 79/11. Myoclonic seizures developed at 4 years and 7 months, but have been well controlled using sodium valproate. EEG showed diffuse 3-4 Hz spike-and-wave complexes that were rather different from the findings in her elder sister.<BR>In conclusion, these case reports of sisters with DRPLA showing different clinical courses and EEG findings suggested that EEG may be useful to clarify the clinical prognosis of infantile-onset DRPLA.

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  • 脳と発達

    脳と発達 39 (6), 445-449, 2007

    THE JAPANESE SOCIETY OF CHILD NEUROLOGY

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