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一名患有广泛颅内钙化的青春期女性反复癫痫发作:一例继发于甲状旁腺功能减退的法尔综合征病例报告

Recurrent Seizures in an Adolescent Female With Extensive Intracranial Calcifications: A Case Report of Fahr's Syndrome Secondary to Hypoparathyroidism.

作者信息

Mohammed Yitayew E, Gebreselassie Kaleab H, Sesega Elfazin H, Wolie Ayenew A, Ahmed Bargicho J

机构信息

Internal Medicine, Worabe Comprehensive Specialized Hospital, Worabe, ETH.

Surgery, Worabe Comprehensive Specialized Hospital, Worabe, ETH.

出版信息

Cureus. 2025 Feb 9;17(2):e78780. doi: 10.7759/cureus.78780. eCollection 2025 Feb.

Abstract

Fahr's syndrome is a rare, progressive, neuropsychiatric disorder characterized by bilateral and symmetrical calcifications over the basal ganglia and other parts of the brain, leading to a wide range of clinical manifestations ranging from neurologic symptoms of movement disorders, seizures, and cerebellar dysfunction to neuropsychiatric symptoms such as dementia, psychosis, and mood disorders. The widespread calcific deposits within the brain tissue that characterize Fahr's syndrome develop secondary to different underlying conditions such as parathyroid disorders, brain infections, and toxic exposures. Hypoparathyroidism, a rare disorder of calcium and phosphate metabolism, is the most commonly identified etiology of Fahr's syndrome. In this case, we report a case of a 17-year-old female patient who presented with status epilepticus. Her past medical history was positive for intermittent episodes of generalized tonic-clonic seizures for the past year. Upon presentation, she had a decreased level of consciousness with a Glasgow Coma Scale score of 9 (eye-opening = 2, verbal response = 2, motor response = 5). Chvostek's and Trousseau's signs were positive. Initial laboratory workup revealed severe hypocalcemia, hyperphosphatemia, and markedly low parathyroid hormone levels. Computed tomography of the brain showed extensive, bilateral, symmetrical calcifications over the basal ganglia, thalami, corona radiata, and dentate nuclei. She was subsequently diagnosed with Fahr's syndrome secondary to hypoparathyroidism and was managed with calcium gluconate, vitamin D, and sodium valproate, which improved her condition. A slit lamp examination of the eyes revealed a bilateral posterior subcapsular cataract more severe in the right eye, for which small incision cataract surgery was performed on her right eye. This case report underscores the importance of considering a diagnosis of Fahr's syndrome in adolescent patients with a history of seizures and unexplained intracranial calcifications on brain imaging. It also emphasizes the necessity of thorough clinical assessment and laboratory tests to identify the underlying cause, as the treatment of Fahr's syndrome primarily focuses on identifying and managing the underlying etiology.

摘要

法尔氏综合征是一种罕见的、进行性的神经精神障碍,其特征是双侧和对称的基底神经节及大脑其他部位钙化,导致广泛的临床表现,从运动障碍、癫痫发作和小脑功能障碍的神经症状到痴呆、精神病和情绪障碍等神经精神症状。法尔氏综合征所特有的脑组织内广泛钙化沉积继发于不同的潜在疾病,如甲状旁腺疾病、脑部感染和有毒物质暴露。甲状旁腺功能减退是一种罕见的钙和磷代谢紊乱疾病,是法尔氏综合征最常见的病因。在本病例中,我们报告了一名17岁女性患者,她因癫痫持续状态就诊。她过去一年有间歇性全身性强直阵挛发作病史。就诊时,她意识水平下降,格拉斯哥昏迷量表评分为9分(睁眼=2分,语言反应=2分,运动反应=5分)。Chvostek征和Trousseau征阳性。初步实验室检查显示严重低钙血症、高磷血症和甲状旁腺激素水平明显降低。脑部计算机断层扫描显示基底神经节、丘脑、放射冠和齿状核广泛双侧对称钙化。她随后被诊断为继发于甲状旁腺功能减退的法尔氏综合征,并接受葡萄糖酸钙、维生素D和丙戊酸钠治疗,病情有所改善。眼部裂隙灯检查发现双侧后囊下白内障,右眼更严重,为此对其右眼进行了小切口白内障手术。本病例报告强调了对于有癫痫病史且脑部影像学检查有不明原因颅内钙化的青少年患者考虑法尔氏综合征诊断的重要性。它还强调了进行全面临床评估和实验室检查以确定潜在病因的必要性,因为法尔氏综合征的治疗主要侧重于识别和处理潜在病因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/884c/11896603/8bdefe1f0c00/cureus-0017-00000078780-i01.jpg

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