Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Indian J Pediatr. 2011 Mar;78(3):351-3. doi: 10.1007/s12098-010-0271-2. Epub 2010 Oct 31.
A 5 year old girl presented with central diabetes insipidus and primary hypothyroidism. No clinical or radiological evidence of Langerhans cell histiocytosis (LCH) was present. Absent posterior pituitary bright spot was seen in magnetic resonance imaging of the brain. She subsequently developed severe headache, massive obesity, accelerated growth and thelarche. A repeat MRI of the brain revealed hypothalamic tumor. Hormonal investigations revealed, paradoxically, undetectable growth hormone on a clonidine stimulation test. Langerhans cell histiocytosis was proved on electron microscopy of the thyroid tissue. There needs to be a high degree of suspicion for LCH as an etiology of primary hypothyroidism, especially in the presence of diabetes insipidus. Precocious puberty, accelerated growth despite growth hormone deficiency, hypothalamic obesity may occur in pediatric LCH. CNS lesions may have an evolving course, thus repeat neuroimaging is important.
一位 5 岁女孩因中枢性尿崩症和原发性甲状腺功能减退症就诊。没有朗格汉斯细胞组织细胞增生症（LCH）的临床或影像学证据。脑部磁共振成像未见垂体后叶亮点。随后，她出现严重头痛、重度肥胖、生长加速和性早熟。脑磁共振成像复查显示下丘脑肿瘤。激素检查显示，可乐定刺激试验无法检测到生长激素，这很反常。甲状腺组织的电镜检查证实了朗格汉斯细胞组织细胞增生症。对于 LCH 作为原发性甲状腺功能减退症的病因，需要高度怀疑，尤其是在存在尿崩症的情况下。儿童 LCH 可能会出现性早熟、生长激素缺乏但生长加速、下丘脑性肥胖。中枢神经系统病变可能呈进展性，因此重复神经影像学检查很重要。
