受傷機転不明の骨折を繰り返した多発骨折の超重症児の1例

Multiple Fractures in a Child with Severe Motor and Intellectual Disability. Case Report

　症例は8歳の男児で，ATR-X(X連鎖αサラセミア・精神遅滞)症候群，てんかんおよび重度の精神運動発達遅滞を合併している．短期間で原因不明の骨折が多発し，検査結果から骨粗鬆症による脆弱性骨折と診断した．超重症心身障害児では骨粗鬆症が合併しやすいが診断が遅れることも多く，確立された検査法や治療法もない．本例では初回骨折後の外固定や牽引治療が骨折に関与した可能性もある．バイタルの変化やスタッフの情報も考慮して早期診断に努め，外固定などによる治療環境の変化が新たな骨折につながりうることに留意して，治療法を検討する必要がある．

　The patient was an 8-year boy with alpha-thalassemia mental retardation (ATR-X) syndrome associated with epilepsy and severe psychomotor retardation.　He sustained frequent fractures of unknown etiology within a short period, and examination indicated osteoporpsis-related fragility fractures.　Many children with severe motor and intellectual disabilities develop osteoporosis as a complication, but the diagnosis of osteoporosis is delayed in many cases, and distinct diagnostic or treatment methods have not been established.　The external fixation and traction performed to treat our patient's fractures may have played a role in the etiology of the subsequent fractures.　It is necessary to know that such patients are injured easily, and noting changes in vital signs or information provided by caregivers would be useful way to diagnose fragility fractures.