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未被发现的甲状旁腺功能减退症的悲剧:一系列错失的机会

Travesty of Undetected Hypoparathyroidism: A Series of Missed Opportunities.

作者信息

Shaji Namitha, Tiwari Ankit, Tejaswini Penuboina, Goyal Nupur

机构信息

Department of Internal Medicine, All India Institute of Medical Sciences, Bhopal, Bhopal, IND.

Department of Cardiology, Postgraduate Institute of Medical Education and Research, Chandigarh, Chandigarh, IND.

出版信息

Cureus. 2023 Jun 23;15(6):e40876. doi: 10.7759/cureus.40876. eCollection 2023 Jun.

DOI:10.7759/cureus.40876
PMID:37492807
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10363647/
Abstract

We describe a 20-year-old male with childhood-onset seizures and a prolonged history of anti-epileptic use. The cause of his seizures remained undetected until he reached the second decade of his life. Extensive intracranial calcifications on brain imaging helped us identify hypocalcemia as a cause of seizures. He had low calcium due to primary hypoparathyroidism. He also had severe aplastic anemia at this time. There were a series of missed opportunities in his history that could have prevented prolonged anti-epileptic use and probably preserved his marrow. This is an educational case for all physicians on how parathyroid abnormalities may get missed.

摘要

我们描述了一名20岁男性,他自幼起病癫痫发作,有长期使用抗癫痫药物的病史。在他进入第二个十年生活之前,其癫痫发作的病因一直未被发现。脑部影像学上广泛的颅内钙化帮助我们确定低钙血症是癫痫发作的一个病因。他因原发性甲状旁腺功能减退而血钙低。此时他还患有严重的再生障碍性贫血。在他的病史中有一系列错失的机会,这些机会本可以避免长期使用抗癫痫药物,并且可能保住他的骨髓。这是一个对所有医生都有教育意义的病例,展示了甲状旁腺异常是如何被漏诊的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/110f/10363647/e58053b7d517/cureus-0015-00000040876-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/110f/10363647/e58053b7d517/cureus-0015-00000040876-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/110f/10363647/e58053b7d517/cureus-0015-00000040876-i01.jpg

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本文引用的文献

1
EPILEPTIC SEIZURES AS THE FIRST MANIFESTATION OF FAHR'S SYNDROME.癫痫发作作为法尔综合征的首发表现
Acta Endocrinol (Buchar). 2020 Jul-Sep;16(3):370-374. doi: 10.4183/aeb.2020.370.
2
Anticonvulsant drugs and hematological disease.抗癫痫药物与血液系统疾病。
Neurol Sci. 2014 Jul;35(7):983-93. doi: 10.1007/s10072-014-1701-0. Epub 2014 Mar 12.
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Fahr's syndrome: literature review of current evidence. Fahr 综合征:当前证据的文献综述。
Orphanet J Rare Dis. 2013 Oct 8;8:156. doi: 10.1186/1750-1172-8-156.
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[Epileptic seizure as the first sign of hypoparathyroidism].[癫痫发作作为甲状旁腺功能减退症的首发症状]
Vojnosanit Pregl. 2011 Jan;68(1):81-4. doi: 10.2298/vsp1101081p.
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The current status of "Fahr's disease" nosology.“法尔病”疾病分类学的现状。
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Hyperphosphatemia and vascular calcification in end-stage renal disease.终末期肾病中的高磷血症与血管钙化
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Pearson marrow pancreas syndrome: a molecular study and clinical management.皮尔逊骨髓胰腺综合征:一项分子研究与临床管理
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