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一名17岁癫痫患者患甲状旁腺功能减退伴基底节钙化的罕见病例,该患者同时患有恶性疟原虫疟疾、血小板减少症和贫血。

A Rare Case of Hypoparathyroidism With Basal Ganglia Calcification in a 17-year-old Epileptic Patient Presenting With Falciparum Malaria, Thrombocytopenia and Anemia.

作者信息

Memon Zauha Fawad, Memon Sibgha Fawad, Memon Matia Fawad, Shah Hussain Haider, Hussain Tooba

机构信息

Medicine, Peoples University of Medical and Health Sciences, Nawabshah, Sindh, Pakistan.

Medicine, Dow University of Health Sciences, Karachi, Sindh, Pakistan.

出版信息

Clin Med Insights Case Rep. 2025 Apr 30;18:11795476251332438. doi: 10.1177/11795476251332438. eCollection 2025.

Abstract

Fahr Syndrome or Strio-Pallido Dentate Calcinosis is a rare neurological syndrome characterized by deposition of calcium in basal ganglia, which usually occurs secondary to other underlying endocrinological disorders like hypo/hyper-parathyroidism. Symptoms vary greatly and may range from psychiatric ones like confusion and hallucination to neurological like Tremors, Rigidity, with seizures being the rarest manifestation. Laboratory tests and brain imaging play a crucial role in establishing the diagnosis, while treatment primarily focuses on managing symptoms. Here, we report a case of a 17-year-old female diagnosed with Fahr's syndrome secondary to hypo-parathyroidism, onset of the disease at such young age coupled with uncommon presentation of fits makes this case rather remarkable.

摘要

法尔综合征或纹状体苍白球齿状核钙化症是一种罕见的神经综合征,其特征是钙在基底神经节沉积,通常继发于其他潜在的内分泌疾病,如甲状旁腺功能减退/亢进。症状差异很大,可能从精神症状如意识模糊和幻觉到神经症状如震颤、僵硬,癫痫发作是最罕见的表现。实验室检查和脑部成像在确立诊断中起关键作用,而治疗主要侧重于症状管理。在此,我们报告一例17岁女性被诊断为继发于甲状旁腺功能减退的法尔综合征,该疾病在如此年轻的年龄发病且伴有不常见的癫痫发作表现,使得该病例相当引人注目。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77e9/12044265/1d114d95f4ae/10.1177_11795476251332438-fig1.jpg

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