表现为全垂体功能减退的神经鞘瘤样病变：诊断和治疗挑战：病例报告
Neurosarcoidosis presenting with panhypopituitarism: diagnostic and therapeutic challenges: a case report.
摘要(中文译文)
神经结节病是结节病累及中枢神经系统的一种罕见但严重的表现。当其累及下丘脑-垂体轴时，可因前叶和后叶垂体激素调节功能受损而导致全垂体功能减退症和尿崩症。早期识别至关重要，因为延迟诊断可能导致危及生命的并发症。我们报告一例42岁白人男性，有12年结节病病史，表现为腹痛、低血压、低体温、高钠血症、多尿和烦渴。他还有广泛的皮肤斑块、关节疼痛和软骨畸形。值得注意的是，他3年前出现了耐药性癫痫发作。实验室检查显示高钠血症、尿渗透压降低以及符合全垂体功能减退症的激素缺乏。影像学显示鞍上区和脑干病变。在排除其他诊断后，确诊为神经结节病。患者对左甲状腺素和去氨加压素的激素替代治疗反应良好，临床状况得到改善。本病例强调了在结节病患者出现内分泌或神经系统症状时考虑神经结节病的重要性。它凸显了及时诊断和多学科管理对于预防不可逆并发症和改善长期预后的价值。
Abstract
Neurosarcoidosis is a rare but serious manifestation of sarcoidosis involving the central nervous system. When it affects the hypothalamic-pituitary axis, it can result in panhypopituitarism and diabetes insipidus due to disruption of anterior and posterior pituitary hormone regulation. Early recognition is critical, as delayed diagnosis may lead to life-threatening complications. We report the case of a 42-year-old White man with a 12-year history of sarcoidosis who presented with abdominal pain, hypotension, hypothermia, hypernatremia, polyuria, and polydipsia. He also had widespread skin plaques, joint pain, and cartilage deformities. Notably, he had developed drug-resistant seizures 3 years earlier. Laboratory investigations demonstrated hypernatremia, low urine osmolality, and hormonal deficiencies consistent with panhypopituitarism. Imaging revealed suprasellar and brainstem lesions. After excluding alternative diagnoses, neurosarcoidosis was established. The patient responded well to hormone replacement therapy with levothyroxine and desmopressin, which led to clinical improvement. This case highlights the importance of considering neurosarcoidosis in patients with sarcoidosis who develop endocrine or neurological symptoms. It underscores the value of timely diagnosis and multidisciplinary management to prevent irreversible complications and improve long-term outcomes.
如何引用
AMA
Moazama Shakeel Ahmed, Talha Kashif, Anurag Jha, Muzamil Khan, Hammad Javaid, Hafiz Fahad Ullah Saeed, et al. Neurosarcoidosis presenting with panhypopituitarism: diagnostic and therapeutic challenges: a case report.. Journal of medical case reports. 2026; doi:10.1186/s13256-026-06196-4.
APA
Moazama Shakeel Ahmed, Talha Kashif, Anurag Jha, Muzamil Khan, Hammad Javaid, Hafiz Fahad Ullah Saeed, et al (2026). Neurosarcoidosis presenting with panhypopituitarism: diagnostic and therapeutic challenges: a case report.. Journal of medical case reports. https://doi.org/10.1186/s13256-026-06196-4
GB/T 7714
Moazama Shakeel Ahmed, Talha Kashif, Anurag Jha, Muzamil Khan, Hammad Javaid, Hafiz Fahad Ullah Saeed, et al. Neurosarcoidosis presenting with panhypopituitarism: diagnostic and therapeutic challenges: a case report.[J]. Journal of medical case reports, 2026 doi:10.1186/s13256-026-06196-4.
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