Suppr超能文献

一名患有甲状旁腺功能减退症的重型β地中海贫血患者的弥漫性脑内钙化:病例报告

Diffuse intracerebral calcification in a beta-thalassaemia major patient with hypoparathyroidism: a case report.

作者信息

Mahmoodi Mojtaba, De Sanctis Vincenzo, Karimi Mehran

机构信息

University of Medical Sciences, Shiraz, Iran.

出版信息

Pediatr Endocrinol Rev. 2011 Mar;8 Suppl 2:331-3.

Abstract

Beta-thalassemia major is a complex medical problem found worldwide. Endocrinopathies are some of the most frequent dysfunctions found in these patients. Iron overload in different organs is responsible for multiple endocrine complications particularly in the absence of adequate chelation therapy. One of the most prevalent endocrine complications of thalassemia major is hypoparathyroidism. It can cause cerebral calcifications in the basal ganglia but seldom outside of the extrapyramidal system. There are few studies about intracerebral calcification due to hypoparathyroidism in patients with thalassemia major. We report the case of a 14 year-old girl who came to our Center with the chief complaint of a generalized tonic-clonic seizure. The patient was known to have beta-thalassemia major since she was 9 months old. Computerized tomographic scan of the brain was done which showed diffuse intracranial calcifications in deep white matter, posterior fossa, basal ganglia and both thalami. Laboratory and neuroimaging assessments revealed the diagnosis of hypoparathyroidism. We strongly recommend periodic assessment and tight control of serum calcium level in all patients with betathalassemia major. Prompt treatment with oral calcium supplements and an active form of vitamin D can prevent hypoparathyroidism and its neurologic complications. Comprehensive evaluation and treatment of other endocrinopathies in accordance with hypoparathyroidism is suggested.

摘要

重型β地中海贫血是一种在全球范围内发现的复杂医学问题。内分泌疾病是这些患者中最常见的功能障碍之一。不同器官的铁过载会导致多种内分泌并发症,尤其是在缺乏充分螯合治疗的情况下。重型地中海贫血最常见的内分泌并发症之一是甲状旁腺功能减退。它可导致基底神经节的脑钙化,但很少在锥体外系之外出现。关于重型地中海贫血患者因甲状旁腺功能减退导致脑内钙化的研究很少。我们报告了一例14岁女孩的病例,她因全身强直阵挛性发作为主诉前来我们中心就诊。该患者自9个月大时就被诊断为重型β地中海贫血。进行了脑部计算机断层扫描,结果显示深部白质、后颅窝、基底神经节和双侧丘脑均有弥漫性颅内钙化。实验室和神经影像学评估确诊为甲状旁腺功能减退。我们强烈建议对所有重型β地中海贫血患者定期进行评估并严格控制血清钙水平。口服钙剂和活性维生素D的及时治疗可预防甲状旁腺功能减退及其神经并发症。建议根据甲状旁腺功能减退对其他内分泌疾病进行综合评估和治疗。

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