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一例以癫痫发作为表现的肾上腺功能不全病例,并发大脑发育性静脉异常和Takotsubo心肌病:病例报告

A case of adrenal insufficiency presenting with seizures, complicated by developmental cerebral venous anomaly and Takotsubo cardiomyopathy: a case report.

作者信息

Villegas Katrina, Eason Brittany, Janiec Karolina, Musallam Alaa, Hammouda Ahmed, Aldwaik Samia Ammar, Tailor Radhika

机构信息

Department of Internal Medicine, St. Joseph's University Medical Center, 703 Main St, Paterson, NJ, USA.

Rowan-Virtua School of Osteopathic Medicine, Stratford, NJ, USA.

出版信息

J Med Case Rep. 2025 Aug 21;19(1):424. doi: 10.1186/s13256-025-05463-0.

Abstract

BACKGROUND

Adrenal insufficiency is a potentially life-threatening condition that often presents with nonspecific symptoms. While fatigue, hypotension, and electrolyte disturbances are common features, seizures and stress-induced cardiomyopathy are rare initial manifestations. This case is reported for its atypical presentation and to highlight the diagnostic challenge it posed in the absence of classic biochemical findings.

CASE PRESENTATION

We report a case of a 68-year-old Hispanic woman with diabetes, hypertension, dyslipidemia, and hypopituitarism secondary to Sheehan syndrome, who presented with new-onset seizures after abruptly discontinuing chronic steroid therapy. Her symptoms included progressive weakness and behavioral changes over several weeks. Initial evaluation revealed hyperglycemia, mild hyponatremia, and no hyperkalemia-findings consistent with secondary adrenal insufficiency-associated seizures, although contributing to initial diagnostic uncertainty. Brain imaging incidentally identified a developmental cerebral venous anomaly, which was initially suspected as a potential cause of the seizures. In addition, echocardiographic findings were consistent with Takotsubo cardiomyopathy, likely precipitated by the stress of her medical condition. However, further evaluation confirmed adrenal insufficiency with low cortisol and adrenocorticotropic hormone levels, and subnormal response to cosyntropin stimulation. Management included hydrocortisone for adrenal insufficiency and levetiracetam for seizure prophylaxis, leading to symptom resolution and no recurrence of seizures.

CONCLUSION

This case emphasizes the importance of maintaining a high index of suspicion for adrenal insufficiency in patients with a suggestive history, even when classic electrolyte abnormalities are absent and neuroimaging reveals confounding findings. Recognizing rare presentations such as seizures and stress cardiomyopathy can prevent delays in diagnosis and improve outcomes.

摘要

背景

肾上腺功能不全是一种潜在的危及生命的疾病,常表现为非特异性症状。虽然疲劳、低血压和电解质紊乱是常见特征,但癫痫发作和应激性心肌病是罕见的初始表现。本文报告该病例因其非典型表现,并强调在缺乏经典生化检查结果时所带来的诊断挑战。

病例介绍

我们报告一例68岁西班牙裔女性,患有糖尿病、高血压、血脂异常以及继发于席汉综合征的垂体功能减退,在突然停用慢性类固醇治疗后出现新发癫痫发作。她的症状包括数周内逐渐加重的虚弱和行为改变。初始评估发现高血糖、轻度低钠血症,无高钾血症,这些结果与继发性肾上腺功能不全相关的癫痫发作相符,尽管这增加了初始诊断的不确定性。脑部影像学检查偶然发现一个发育性脑静脉异常,最初怀疑这是癫痫发作的潜在原因。此外,超声心动图检查结果与Takotsubo心肌病相符,可能是由她的病情应激诱发的。然而,进一步评估证实存在肾上腺功能不全,皮质醇和促肾上腺皮质激素水平低,对促肾上腺皮质激素刺激试验反应低下。治疗包括使用氢化可的松治疗肾上腺功能不全,使用左乙拉西坦预防癫痫发作,症状得以缓解且癫痫未再复发。

结论

该病例强调,对于有提示性病史的患者,即使没有经典的电解质异常且神经影像学检查有混淆结果,也需高度怀疑肾上腺功能不全。认识到癫痫发作和应激性心肌病等罕见表现可防止诊断延误并改善治疗结果。

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