呼吸障害で発症し大後頭孔の減圧術により症状の改善を認めたachondroplasiaの1例

Achondroplasia with Respiratory Disturbance:Case Report

Ⅰ．はじめに

　Achondroplasiaは軟骨内の化骨異常による四肢短縮型の骨系統疾患である．常染色体優性遺伝形式をとるが，80％は突然変異である．

　Achondroplasiaの患児は時として呼吸障害を呈することがあり，乳幼児の突然死の原因となることが多い．われわれは，大後頭孔の狭窄により軽度の呼吸障害を認め，大後頭孔減圧術を施行することにより改善した，乳幼児の1症例を経験したので，若干の文献的考察を加え報告する．

Achondroplasia often accompanies stenosis of both the foramen magnum and the upper cervical spinal canal. Most infants die as a result of respiratory disturbance, including upper airway obstruction, chest deformity, and compres-sion of the cervicomedullary junction. Especially, young patients under 4 years old sometimes suffered sudden death. Therefore, we think it is necessary to perform preventive surgery when the patient's cervicomedullary junction is compressed markedly even if the symptom is mild. The patient is a 2-year-old girl. She has experienced mild respiratory disturbance since she was born.