Costello綜合征二例并文獻復習

江轉南 劉祖霖 歐輝 侯樂樂 孟哲 張麗娜 梁立陽

【關鍵詞】 Costello綜合征;HRAS基因;身材矮小;喂養困難

Costello syndrome： a report of two cases and literature review Jiang Zhuannan， Liu Zulin， Ou Hui， Hou Lele， Meng Zhe， Zhang Lina， Liang Liyang. Department of Pediatrics， Sun Yat-sen Memorial Hospital of Sun Yat-sen University， Guangzhou 510120， China

Corresponding author， Liang Liyang， E-mail： liangliy@ outlook. com

【Abstract】 Objective To investigate the clinical characteristics of Costello syndrome. ?Methods Clinical characteristics， type of gene mutation and follow-up of two cases of Costello syndrome were retrospectively analyzed. Literature review was performed in CNKI， Wanfang data and PubMed using the keywords of“Costello syndrome”or“HRAS gene” in both Chinese and English. The clinical characteristics and gene type of Costello syndrome in previous reports were summarized. ?Results The two children diagnosed with Costello syndrome presented with special signs （curly hair and thick lip）， growth retardation and heterozygous point mutation in exon 2 of HRAS gene. After the diagnosis， two children were treated with neurotrophic drug therapy， regular exercises， language rehabilitation training and individualized education， etc. The physical and intellectual abilities were improved， whereas the body height was significantly less than that of normal counterparts. The clinical characteristics of the Costello syndrome patients reported in literatures were similar to those of the two children in this paper. Special signs， feeding difficulty， short stature and mental retardation were the main clinical manifestations. Some patients presented with cardiovascular， skeletal or nervous system abnormalities，or complicated with tumor susceptibility. ?Conclusions The incidence of Costello syndrome is extremely low， which is involved with multiple systemic lesions. Special signs and HRAS gene sequencing contribute to the diagnosis of Costello syndrome.

【Key words】 Costello syndrome;HRAS gene;Short stature;Feeding difficulty

Costello綜合征是一種非常罕見的常染色體顯性遺傳病，發病率極低，筆者查閱文獻，發現目前國內僅有2例報道[1-2]。為加深臨床醫師對該病的認識，現報道2例經基因測序確診的Costello綜合征患兒的臨床特征、基因變異類型、治療和隨診情況，并結合國內外相關文獻進行復習。

對象與方法

一、 2例Costello綜合征患兒的臨床資料收集

選擇2013年1月至2018年12月于中山大學孫逸仙紀念醫院就診并經基因測序確診為Costello綜合征的2例患兒，收集并分析其病史、體格檢查、輔助檢查、治療及隨訪等資料。

二、 文獻檢索

以“Costello綜合征”“科斯特洛綜合征” “Costello syndrome”或“HRAS gene”為關鍵詞，在中國知網、萬方數據庫及PubMed上檢索截至2018年12月的相關文獻，收集并分析檢索到的資料。

結 果

一、 2例Costello綜合征患兒的病例資料

1. Costello綜合征患兒的一般情況

病例1為女性患兒，7歲，因“生長發育遲緩7年”于2016年12月10日入我院?；純鹤杂左w格生長、語言及運動發育遲緩。來診時身材矮小、智力低下。出生史：第2胎，35+6周順產出生，出生時體質量3.55 kg。既往史：1歲內多次因“喂養困難、體質量不增、支氣管肺炎”就醫，1 ～ 2歲出現過3次四肢強直性抽搐。外院查甲狀腺功能正常，染色體：46，XX。家族史無特殊，父母非近親結婚，有1胞兄，20歲，父母及胞兄均身體健康。入院體格檢查：體質量16 kg，身高100 cm，

頭圍52 cm，卷發，高前額，眼距寬，低耳位，鼻梁塌，唇厚嘴大，牙齒發育不良，見圖1A。全身皮膚粗糙，指甲發育不良，掌跖部皮紋深大，左掌面及右掌背側均可見一繭，見圖1B?！?br>