F Xu, CC Zou, L Liang, XM Huang, YN Shao

Abstract

Objective: This report aimed to add our knowledge on the clinical features, diagnosis and management of ring chromosome 15 syndrome. Methods: Case report and literatures review. Results: A 4.5-year-old girl was admitted to our unit because of short stature. She was 86 cm in height and 9 kg in weight. Physical examination showed sparse temporal hair, right simian crease, fifth finger clinodactyly, and many irregular café-au-lait spots on the chest, abdomen, and inner thigh. Mental retardation was found. The results of cranial magnetic resonance imaging (MRI) as well as abdominal and cardiac ultrasonography were normal. Growth hormone (GH) provocative tests showed normal GH peak. Karyotyping of the lymphocytes showed 46,XX, r(15) pattern. Recombination human GH (rhGH) with a dose of 0.1 U/kg^-1. d^-1 was administered for 4 months with height increment of 3 cm. Conclusion: Ring chromosome 15 syndrome should be considered in patients with short stature and café-au-lait spots. Timely recognition and hereditary tendency counseling is required. rhGH therapy may improve the growth velocity.

目的：提高我們對於15環狀染色體綜合徵臨床特點、診斷以及治療的認識。方法：病例報告以及文獻回顧。結果：一名4歲半女童以身材矮小來我部就診。隨後的體格檢查提示身高86 cm，體重9 kg，顳部毛髮稀疏，右手為通貫掌，第五指彎曲，胸部腹部以及大腿內側可見較多非規律分佈的牛奶咖啡斑。患兒同時伴有智力發育遲滯。頭部核磁（MRI），腹部以及心臟超聲波檢查正常。生長激素（GH）激發試驗提示GH峰值正常。淋巴細胞的核型分析則提示46,XX, r（15）。患兒經複合人GH（rhGH）0.1 U/kg-1莙-1治療後4個月身高增長3 cm。結論：臨床上對於存在身材矮小伴牛奶咖啡斑就診的病人需考慮15環狀染色體綜合徵。對於此類的病人應予及時診斷以及遺傳傾向的諮詢，rhGH 治療可改善生長速度。