Sclerosteosisの2症例

Two Cases of Sclerosteosis

　I．はじめに

　生下時もしくは幼少時に，一側性または両側性に顔面神経麻痺が発症し，反復性もしくは，進行性に経過する疾患のなかに，頭蓋・管状骨の硬化形成異常を来す疾患がある。最近我々は，日本において，第2，第3症例目の報告にあたるsclerosteosisの姉妹1家系を経験し，妹の症例に顔面神経減圧術を施行したので報告する。

　Sclerosteosis is an unique autosomal recessive condition in which skeletal overgrowth is associated with syndactyly, facial palsy, and conductive or mixed deafness.

　Two patients were sisters, and a 13-year-old girl had typical clinical features, syndactyly, bilateral facial nerve palsy, and distortion of facies.

　Her sister, a 16-year-old girl, complainted of bilateral hearing loss and frequent headache. Facial palsy was not so remarkable.

　CT scan of the temporal bone was very useful in diagnosis and evaluation of the deformities of the structures in these cases.