脳神経症状を呈したSclerosteosisの姉妹例

Sibling Case of Sclerosteosis with Cranial Nerve Symptoms

I．はじめに

　1967年Hansen^3）は，それまで大理石骨病（marblebone disease or osteopetrosis）の特殊型とされ，合指症があり，主として頭蓋骨・下顎骨・鎖骨などに対称的なhyperostosisを伴い，かつosteosclerosisを来たす家族性発生の全身性骨疾患の一群を"Sklerosteose"と命名した．本疾患はこれまでわれわれの渉猟しえた範囲では50例で，本邦においては1975年Sugiura^8）の報告した21歳女性の1例のみで，極めて稀な疾患といえる．最近われわれは姉が難聴，妹は顔面神経麻痺にて発症した本疾患と考えられる姉妹例を経験したので，若干の文献的考察を加え報告する．

We experienced two cases of "Sclerosteosis" who were 12and 15 year old sisters. Previous reported cases of thisdisease are 50 cases and among them only one patient wasreported in Japan.

Sclerosteosis seems to be inherited as an autosomal re-cessive trait. Parental consanguinity is also observed. Thepeculiar facies are evident in infancy, characterized bybroad, flat nasal bridge, ocular hypertelorism and prognathic,broadened mandible. Commonly, they have cutaneoussyndactylies in bilateral hands and foots, especially betweenthe second and third finger and toe.