垂体柄阻断综合征4例

Clinical Analysis of 4 Cases of Pituitary Stalk Interruption Syndrome in Children

目的通过对垂体柄阻断综合征(PSIS)患者临床特点进行分析,加强对本类疾病的认识。方法总结本院2010年7月-2011年3月收治的4例PSIS患者的临床表现、实验室检查和影像学资料,采用回顾性分析方法,对其特点进行分析。结果 PSIS患儿4例。其中男3例,女1例。4例均以生长发育迟缓为主诉,1例还有步态不稳、反复抽搐。4例患儿身高78.0～130.0 cm,均低于同年龄、同性别健康儿童平均身高的第3百分位以下。有腺垂体功能减退的临床表现和实验室检查:生长激素激发试验峰值均低于5 000 ng.L-1;其中2例伴垂体性甲状腺功能减低和垂体性肾上腺皮质功能减退。神经垂体功能正常。垂体MRI增强扫描均表现为垂体柄未见显示,垂体小,后叶异位。1例并Chiari畸形Ⅰ型。结论 PSIS的发病率低,以生长发育迟缓为主要临床表现,伴部分性或完全性腺垂体功能减退,但神经垂体功能正常。部分患儿合并其他先天发育畸形。MRI检查的特征性表现为垂体柄缺如,垂体小,神经垂体异位,应提高临床对PSIS的认识和诊治能力。

Objective To analyze the clinical characteristics of the patients with pituitary stalk interruption syndrome（PSIS）,and to improve the comprehension of this disease. Methods The retrospective analysis was performed on clinical characteristics,laboratory tests and imaging data of 4 cases of PSIS patients in the Affiliated Children′s Hospital of Capital Institute of Pediatrics from Jul.2010 to Mar.2011. Results All 4 patients（3 male,1 female） were presented with the chief complaint of growth retardation,and one of them was accompanied with unstable gait and repeated convulsions.All of their heights were measured between 78.0-130.0 cm,and were all below the 3rd centile of the normal children of the same age and the same sex groups.The patients had both clinical presentations and laboratory results of adenohypophyseal dysfunction：Stimulated growth hormone peak levels were all below 5 000 ng·L-1.Among them,2 patients were also presented with central hypothyroidism and central adrenocortcal hypofunction.All the patients had normal posterior pituitary function.MRI with gadolinium contrast revealed no pituitary stalk,anterior pituitary hypoplasia with ectopic posterior pituitary.One was also accompanied with typeⅠChiari malformation. Conclusions PSIS is rarely seen and it usually presents with clinical characteristics of growth retardation,partial or complete anterior hypopituitarism,but with normal posterior pituitary function.Some cases are combined with other congenital malformations.The features of MRI include the absence of both a visible pituitary stalk and anterior pituitary hypoplasia with ectopic posterior pituitary.The appreciation of the clinical characteristics of this syndrome should be emphasized and early treatment is crucial.