筋強直性ジストロフィー，神経線維腫症1型およびNoonan症候群の合併例に発生した側弯症の治療経験

A Case of Scoliosis Developed in a Patient with Myotonic Dystrophy Combined with Neurofibromatosis 1 and Noonan Syndrome

　抄録：筋強直性ジストロフィーに神経線維腫症1型（neurofibromatosis 1，以下NF-1）およびNoonan症候群を合併し，側弯症を呈した極めて稀な1例を経験した．患者は15歳，女性で，2歳時にNF-1，6歳時に筋強直性ジストロフィーと診断されており，今回特徴的な顔貌などからNoonan症候群と診断された．12歳時に右凸35°の側弯を認め装具療法を開始したが，側弯が60°に進行したため，15歳時に当科にて後方矯正固定術を行った．術後側弯は18°に矯正され，その後も良好な矯正が維持されている．本例はNF-1およびNoonan症候群の両者の特徴を備えていたことから，1985年にAllansonらにより報告されたneurofibromatosis-Noonan syndromeに相当すると考えられ，さらに筋強直性ジストロフィーも合併した極めて稀な症候性側弯症例である．

　We report a rare case of scoliosis developed in a patient with myotonic dystrophy combined with neurofibromatosis 1 (NF-19 and Noonan syndrome. A 15-year-old female patient was diagnosed with Noonan syndrome based on the distinctive faces. She had been diagnosed with NF-1 at 2 years of age and with myotonic dystrophy at 6 years of age. At 12 years of age, she developed right convex thoracic scoliosis with a curvature of 35°and was treated with a brace, however, the curvature progressed to 60°, and posterior correction and fusion was performed with an ISOLA system at 15 years of age. The Cobb angle had decreased to 18°after surgery, and good correction had been maintained at 1 year. Since the patients exhibited the distinctive clinical features of both NF-1 and Noonan syndrome, this may be a case of the neurofibromatosis-Noonan syndrome described as a new clinical entity by Allanson in 1985. Furthermore, the association between myotonic dystrophy and development of scoliosis made this case extremely rare, because no such association had ever been reported previously.