Dubey Prashant, Rao Prajwal, Naphade Pravin
Neurology, Rohilkhand Medical College, Bareilly, IND.
Neurology, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Pune, IND.
Cureus. 2025 May 5;17(5):e83507. doi: 10.7759/cureus.83507. eCollection 2025 May.
Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare and complex primary immunodeficiency disorder. The classic clinical triad of APS-1 includes chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. Clinically, APS-1 presents with significant variability and is characterized by autoimmune dysfunction affecting both endocrine organs (including the parathyroids, adrenal glands, thyroid, gonads, and pituitary) as well as non-endocrine tissues (such as the skin, liver, kidneys, lungs, eyes, and intestines). Here we present a 23-year-old female with a history of abnormal body movement associated with posturing and transient loss of consciousness, along with a history of recurrent oral ulceration, itchy patches over intertriginous areas, and pigmentation of skin. Her examination was suggestive of low blood pressure, oral and cutaneous candidiasis, and hyperpigmentation of the skin. Routine investigations showed very low serum calcium, low parathyroid hormone (PTH) levels, and low early morning cortisol levels, and pathological calcification of the basal ganglia was noted on CT brain. As the patient met the diagnostic criteria of APS-1, she was treated accordingly and responded well.
1型自身免疫性多内分泌腺综合征（APS-1）是一种罕见且复杂的原发性免疫缺陷疾病。APS-1的典型临床三联征包括慢性黏膜皮肤念珠菌病、甲状旁腺功能减退和肾上腺功能不全。临床上，APS-1表现出显著的变异性，其特征是自身免疫功能障碍影响内分泌器官（包括甲状旁腺、肾上腺、甲状腺、性腺和垂体）以及非内分泌组织（如皮肤、肝脏、肾脏、肺、眼睛和肠道）。在此，我们报告一名23岁女性，有与姿势和短暂意识丧失相关的身体异常运动史，以及复发性口腔溃疡、间擦部位瘙痒斑块和皮肤色素沉着病史。她的检查提示血压低、口腔和皮肤念珠菌病以及皮肤色素沉着。常规检查显示血清钙极低、甲状旁腺激素（PTH）水平低以及清晨皮质醇水平低，脑部CT显示基底节有病理钙化。由于该患者符合APS-1的诊断标准，因此给予相应治疗，且反应良好。
