Suppr超能文献

从特发性尿崩症到神经退行性朗格汉斯细胞组织细胞增多症——一种不寻常的疾病表现和病程进展

From idiopathic diabetes insipidus to neurodegenerative Langerhans cell histiocytosis--an unusual presentation and progression of disease.

作者信息

Hayward Rachel M, Nicolin Gary, Kennedy Charles, Joy Harriet, Davies Justin H

机构信息

Paediatric Endocrinology, Southampton University Hospitals NHS Trust, Southampton, UK.

出版信息

J Pediatr Endocrinol Metab. 2011;24(9-10):811-4. doi: 10.1515/jpem.2011.298.

Abstract

Diabetes insipidus (DI) is rare in childhood and has a wide-ranging aetiology including the involvement of uncontrolled proliferation of dendritic cells in the hypothalamic-pituitary axis, characteristic of Langerhans cell histiocytosis (LCH). DI may manifest as a sequela of multisystem LCH disease involving skin, bone, liver, spleen and lymph nodes. In very rare cases patients diagnosed with LCH exhibit neurodegenerative changes, such as severe ataxia, tremor, dysarthria and intellectual impairment. We report a 2 1/2-year-old boy who presented initially with apparent idiopathic DI, developed anterior pituitary hormone deficiency and progressive neurological deterioration secondary to neurodegenerative LCH.

摘要

尿崩症(DI)在儿童期较为罕见,其病因广泛,包括下丘脑 - 垂体轴中树突状细胞不受控制的增殖,这是朗格汉斯细胞组织细胞增生症(LCH)的特征。DI可能表现为多系统LCH疾病累及皮肤、骨骼、肝脏、脾脏和淋巴结后的后遗症。在极少数情况下,被诊断为LCH的患者会出现神经退行性改变,如严重共济失调、震颤、构音障碍和智力障碍。我们报告了一名2岁半的男孩,他最初表现为明显的特发性DI,随后出现垂体前叶激素缺乏以及继发于神经退行性LCH的进行性神经功能恶化。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验