Ritscher-Schinzel syndrome, or 3C (cranio-cerebello-cardiac) syndrome is a developmental disorder characterized by cranio-facial, cerebellar and cardiac anomalies. It is a rare disease with an incidence of 1/1,000,000...Ritscher-Schinzel syndrome, or 3C (cranio-cerebello-cardiac) syndrome is a developmental disorder characterized by cranio-facial, cerebellar and cardiac anomalies. It is a rare disease with an incidence of 1/1,000,000 inhabitants, and was first described by Ritscher-Schinzel in 1987. 3C syndrome is an autosomal recessive disease caused by a mutation on the long arm of chromosome 8 to 8q24.13, the KIAA0196 locus, the strumpellin protein gene. The cardiac and cerebral anomalies are most often leading cause of death at an early age and people with 3C syndrome rarely exceed 40 years. In this paper, we report a case of Ritscher-Schinzel in 3-month-old boy who was admitted to our neurosurgical department in September 2020. Clinical examination revealed a macrocrania with head circumference at 47 cm. There was a prominence of forehead and occiput, the root of the nose which was flat, hypertelorism and micrognatism. The CT scan revealed Dandy WALKER malformation with cystic dilation of the 4th ventricle, an aplasia of the cerebellar vermis associated with a tretraventricular hydrocephalus.展开更多
目的探讨不同手术方法治疗小儿主动脉弓部病变的效果。方法 78例主动脉弓部病变患儿,其中19例单纯主动脉弓缩窄(coarctation of aorta,COA)或合并小的房间隔缺损、轻度瓣膜反流等采用左后外侧切口,切除COA狭窄段行端端吻合;31例COA合并...目的探讨不同手术方法治疗小儿主动脉弓部病变的效果。方法 78例主动脉弓部病变患儿,其中19例单纯主动脉弓缩窄(coarctation of aorta,COA)或合并小的房间隔缺损、轻度瓣膜反流等采用左后外侧切口,切除COA狭窄段行端端吻合;31例COA合并心内畸形采用体外循环下一期矫治弓部病变和心内畸形,端端吻合技术矫治;28例COA合并弓发育不良、心内畸形需一期矫治及主动脉弓离断(interruption of aortic arch,IAA)者采用扩大端侧吻合技术行主动脉弓重建。结果 3例死亡,未发生肾功能衰竭及神经系统并发症;右侧上下肢动脉压差由术前中位数压差43.2mm Hg下降至术后中位数压差2.4mm Hg,差异有统计学意义(P<0.01);超声检查跨狭窄段压差由术前(41.1±20.8)mm Hg下降至术后(16.3±11.1)mm Hg,差异有统计学意义(P<0.01);术后随访(11.2±3.1)个月,未发生吻合口再狭窄。结论个性化选择手术方式治疗小儿主动脉弓部病变,近、中期效果良好。展开更多
目的分析主动脉缩窄(coarctation of aorta,COA)合并心内畸形伴重症肺炎手术治疗的效果。方法回顾性分析2014年1月至2015年8月我院26例COA合并心内畸形伴重症肺炎患儿的临床资料,其中男18例、女8例,年龄6 d至26个月,中位年龄5.5个月,经...目的分析主动脉缩窄(coarctation of aorta,COA)合并心内畸形伴重症肺炎手术治疗的效果。方法回顾性分析2014年1月至2015年8月我院26例COA合并心内畸形伴重症肺炎患儿的临床资料,其中男18例、女8例,年龄6 d至26个月,中位年龄5.5个月,经内科治疗肺炎不能缓解,其中7例(26.9%)带气管插管行急症手术治疗。双切口5例,单切口21例。远期随访资料通过门诊获得。结果院内死亡2例,平均住院时间(18.5±4.5)d,体外循环时间(93.5±36.4)min,术后呼吸机辅助时间(89.5±41.3)min。术后并发症主要为肺部炎症感染。门诊随访6个月,患儿肺炎发病率降低,生长发育状况明显改善。结论 COA合并心内畸形并发肺炎在感染不能控制的情况下,仍可进行手术矫治,并能取得很好的疗效。展开更多
文摘Ritscher-Schinzel syndrome, or 3C (cranio-cerebello-cardiac) syndrome is a developmental disorder characterized by cranio-facial, cerebellar and cardiac anomalies. It is a rare disease with an incidence of 1/1,000,000 inhabitants, and was first described by Ritscher-Schinzel in 1987. 3C syndrome is an autosomal recessive disease caused by a mutation on the long arm of chromosome 8 to 8q24.13, the KIAA0196 locus, the strumpellin protein gene. The cardiac and cerebral anomalies are most often leading cause of death at an early age and people with 3C syndrome rarely exceed 40 years. In this paper, we report a case of Ritscher-Schinzel in 3-month-old boy who was admitted to our neurosurgical department in September 2020. Clinical examination revealed a macrocrania with head circumference at 47 cm. There was a prominence of forehead and occiput, the root of the nose which was flat, hypertelorism and micrognatism. The CT scan revealed Dandy WALKER malformation with cystic dilation of the 4th ventricle, an aplasia of the cerebellar vermis associated with a tretraventricular hydrocephalus.
文摘目的分析主动脉缩窄(coarctation of aorta,COA)合并心内畸形伴重症肺炎手术治疗的效果。方法回顾性分析2014年1月至2015年8月我院26例COA合并心内畸形伴重症肺炎患儿的临床资料,其中男18例、女8例,年龄6 d至26个月,中位年龄5.5个月,经内科治疗肺炎不能缓解,其中7例(26.9%)带气管插管行急症手术治疗。双切口5例,单切口21例。远期随访资料通过门诊获得。结果院内死亡2例,平均住院时间(18.5±4.5)d,体外循环时间(93.5±36.4)min,术后呼吸机辅助时间(89.5±41.3)min。术后并发症主要为肺部炎症感染。门诊随访6个月,患儿肺炎发病率降低,生长发育状况明显改善。结论 COA合并心内畸形并发肺炎在感染不能控制的情况下,仍可进行手术矫治,并能取得很好的疗效。
