Schaefers J, Cools M, De Waele K, Gies I, Beauloye V, Lysy P, Francois I, Beckers D, De Schepper J
Division of Pediatrics, UZ Brussel Kinderziekenhuis, Vrije Universiteit Brussel, Brussels, Belgium.
Division of Pediatric Endocrinology, UZ Gent, Gent, Belgium.
Clin Endocrinol (Oxf). 2017 Aug;87(2):171-176. doi: 10.1111/cen.13362. Epub 2017 Jun 5.
Despite lymphocytic or autoimmune infundibuloneurohypophysitis (INH) is an increasingly recognized aetiology in children with central diabetes insipidus (CDI); clinical data on epidemiology (clinical evolution, predisposing factors, complications), diagnosis and management of this entity are limited and mostly based on published case reports. The aim of this study was to gain a broader insight in the natural history of this disease by analysing the clinical presentation, radiological pituitary stalk changes, associated autoimmunity and hormonal deficiencies in children with CDI and a self-limiting or transient stalk thickening (ST), diagnosed as autoimmune infundibuloneurohypophysitis, during the last 15 years in four Belgian university hospitals.
The medical files of nine CDI patients with a ST at initial presentation and no signs of Langerhans cell histiocytosis or germinoma at presentation and/or during follow-up of more than 1.5 years were reviewed.
Age at presentation ranged from 3 to 14 years. Two patients had a positive family history of autoimmunity. Three children presented with associated growth failure, two with nausea and one with long-standing headache. Median maximal diameter of the stalk was 4.6 mm (2.7-10 mm). Four patients had extra-pituitary brain anomalies, such as cysts. One patient had central hypothyroidism, and another had a partial growth hormone deficiency at diagnosis. Within a mean follow-up of 5.4 (1.5-15) years, stalk thickening remained unchanged in two patients, regressed in one and normalized in six children. CDI remained in all, while additional pituitary hormone deficiencies developed in only one patient.
In this series of children INH with CDI as initial presentation, CDI was permanent and infrequently associated with anterior pituitary hormone deficiencies, despite a frequent association with nonstalk cerebral lesions.
尽管淋巴细胞性或自身免疫性漏斗神经垂体炎（INH）在中枢性尿崩症（CDI）儿童中是一种日益被认识到的病因；但关于该疾病的流行病学（临床演变、易感因素、并发症）、诊断和管理的临床数据有限，且大多基于已发表的病例报告。本研究的目的是通过分析在过去15年中于比利时四家大学医院诊断为自身免疫性漏斗神经垂体炎、以CDI为首发表现且伴有自限性或短暂性垂体柄增粗（ST）的儿童的临床表现、垂体柄的放射学改变、相关自身免疫和激素缺乏情况，更全面地了解该疾病的自然史。
回顾了9例初诊时伴有ST且在就诊时和/或超过1.5年的随访期间无朗格汉斯细胞组织细胞增多症或生殖细胞瘤迹象的CDI患者的病历。
就诊时年龄为3至14岁。2例患者有自身免疫性疾病家族史阳性。3例儿童伴有生长发育迟缓，2例伴有恶心，1例伴有长期头痛。垂体柄的最大直径中位数为4.6毫米（2.7 - 10毫米）。4例患者有垂体外脑异常，如囊肿。1例患者诊断时患有中枢性甲状腺功能减退，另1例患有部分生长激素缺乏。在平均5.4（1.5 - 15）年的随访中，2例患者的垂体柄增粗保持不变，1例消退，6例儿童恢复正常。所有患者的CDI均持续存在，仅1例患者出现了额外的垂体激素缺乏。
在这组以CDI为首发表现的儿童INH中，尽管常与非垂体柄脑部病变相关，但CDI是永久性的，且很少与垂体前叶激素缺乏相关。
