Mao Yang, Sheng-Lan Pu, Ling Li, Yu Ma, Qin Qin, Yan-Xia Wang, Wen-Long Huang, Hong-Ya Hu, Mei-Feng Zhu, Chun-Zhu Li
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引用次数: 0
摘要
背景介绍甲状旁腺功能减退症(HP)是一种罕见的内分泌疾病,而全坐位综合征(SIT)则是一种罕见的内脏器官位置与正常位置相比呈镜像模式的疾病。本病例说明了 HP 和 SIT 之间一些潜在的共同机制,强调了准确识别和及时急救的重要性,为今后的研究提供了启示。病例摘要:本报告讨论了一例青少年时期发病的中年 HP 患者并发 SIT 的病例。该患者反复发作神经肌肉兴奋性增高(表现为手足痉挛和喉痉挛),甚至出现昏迷。起初,这些症状被误诊为癫痫。然而,在普通内科病房进行彻底检查和治疗后,正确诊断得以确立。相应的治疗改善了患者的症状:结论:HP 和 SIT 的并发可能与基因突变、染色体异常或遗传因素有关,其他类似疾病也可能如此。
Hypoparathyroidism with situs inversus totalis: A case report.
Background: Hypoparathyroidism (HP) is a rare endocrine disorder, while situs inversus totalis (SIT) is a rare condition in which the internal organs are positioned in a mirrored pattern compared to their usual positions. This case illustrates some potential shared mechanisms between HP and SIT, highlighting the importance of accurate identification and prompt first emergency, offering insights for future research.
Case summary: This report discusses a case of a middle-aged patient with adolescent-onset HP with concurrent SIT. The patient experienced recurrent episodes of increased neuromuscular excitability (manifesting as spasms in the hands and feet and laryngospasms) and even periods of unconsciousness. Initially, these symptoms led to a misdiagnosis of epilepsy. Nevertheless, upon thorough examination and treatment in the general medicine ward, the correct diagnosis was established. Corresponding treatment resulted in improved management of the patient's symptoms.
Conclusion: Co-occurrence of HP and SIT may be associated with genetic mutations, chromosomal anomalies, or hereditary factors, as may other similar conditions.