長期経過観察をした歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)の28歳女性 : 歩行分析の有用性 [in Japanese] Female with Dentatorubral-Pallidoluysian Atrophy Followed for 14 Years from the Pre-Clinical Stage : Availability of Gait Analysis [in Japanese]
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知的障害以外の症状が認められなかった時期より長期経過観察をした歯状核赤核淡蒼球ルイ体萎縮症 (DRPLA) の28歳女性を報告した. 本例の遺伝子診断に家族の了承は得られなかったが, 母と兄が剖検病理診断でDRPLAと診断されていたため, 頭部MRI・脳波・歩行分析・心理検査などを行いつつ経過を観察した. 頭部MRIでは10歳代後半より小脳萎縮が出現し, 脳波では14歳の初診時より全般性棘徐波複合が認められた. 臨床的には歩行障害とてんかんが発症した15歳をDRPLAの発症と考えた. 歩行分析では20歳代後半になって明らかな異常が認められるようになり, その後1年で歩行不能となった. 経過観察において歩行分析は有用なツールであった.
We presented a 28-year-old female with dentatorubral-pallidoluysian atrophy (DRPLA) who had been followed from the pre-clinical stage. Her mother and elder brother were diagnosed as DRPLA at autopsy. Though the genetic diagnosis was not performed, we diagnosed this patient as DRPLA from her clinical course and family history. She first visited our hospital at age 14 with a symptoms of mental retardation. Generalized tonic-clonic type epilepsy developed at age 15, and valproate was prescribed from age 24. Gait disturbance and mental deterioration gradually progressed from age 15. We had performed gait analyses and brain MRI studies at regular intervals from age 14 to 27. she could walk even with gait disturbance until her early 20s. At one year after marked ataxia was recorded on gait analysis, she rapidly regressed and became unable to walk. Following this patient over a long period of time presented an opportunity to gather informative data regarding the progression of this disorder.
- NO TO HATTATSU
NO TO HATTATSU 41(4), 294-298, 2009-07-01
The Japanese Society of Child Neurology