Niedzialkowska Ewelina, Blazin Tatjana, Shelden Daniel, Buras Eric D
Department of Internal Medicine, Corewell Health William Beaumont University Hospital, Royal Oak, MI 48073, USA.
Division of Endocrinology, Diabetes and Metabolism, Department of Internal Medicine, Corewell Health William Beaumont University Hospital, Royal Oak, MI 48073, USA.
JCEM Case Rep. 2024 Aug 6;2(8):luae141. doi: 10.1210/jcemcr/luae141. eCollection 2024 Aug.
Neurosarcoidosis (NS) with hypothalamic-pituitary (HP) involvement (HP-NS) is a rare clinical condition, conferring variable hormonal deficits that are typically irreversible. Here, we present 2 cases of NS with panhypopituitarism. The first patient presented with cauda equina syndrome and arginine vasopressin deficiency, while the second developed recurrent optic neuritis and vision loss in the setting of a sellar mass. In the first case, neurological symptoms resolved after therapy with high-dose glucocorticoids, infliximab, and methotrexate; while in the second, visual restoration followed resection of the granulomatous tissue and immunosuppressive therapy. In both cases, pituitary dysfunction persisted despite neurological improvement. We contextualized the presentations and outcomes through a literature review of HP-NS case reports and case series. This revealed high rates of extraneurologic sarcoidosis in HP-NS patients with panhypopituitarism, while underscoring the need for hormonal replacement-as endocrinopathies rarely respond to sarcoidosis-directed immunosuppression.
累及下丘脑 - 垂体(HP)的神经结节病(NS)(HP - NS)是一种罕见的临床病症,会导致多种通常不可逆的激素缺乏。在此,我们报告2例全垂体功能减退的NS病例。首例患者表现为马尾综合征和精氨酸加压素缺乏,而第二例患者在鞍区肿块的情况下出现复发性视神经炎和视力丧失。在第一例中,经大剂量糖皮质激素、英夫利昔单抗和甲氨蝶呤治疗后神经症状缓解;而在第二例中,切除肉芽肿组织并进行免疫抑制治疗后视力恢复。在这两例中,尽管神经功能有所改善,但垂体功能障碍仍然存在。我们通过对HP - NS病例报告和病例系列的文献综述来阐述病例的表现和结果。这揭示了全垂体功能减退的HP - NS患者中存在较高比例的神经系统外结节病,同时强调了激素替代治疗的必要性——因为内分泌病很少对针对结节病的免疫抑制治疗有反应。