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垂体结节病的非典型表现:一名年轻女性出现大量体重减轻和发育不良

An Atypical Presentation of Pituitary Neurosarcoidosis as Massive Weight Loss and Failure to Thrive in a Young Female.

作者信息

Deshmukh Paulami, Deogaonkar Anushka, Deshmukh Vaishali

机构信息

MBBS Student, Department of Medicine, Smt. Kashibai Navale Medical College and General Hospital, Pune, Maharashtra, India, Orcid: https://orcid.org/0000-0001-9995-4434, Corresponding Author.

MBBS, Department of Pharmacology, Bharati Vidyapeeth Medical College, Bharati Vidyapeeth (Deemed to be University), Pune, Maharashtra, India.

出版信息

J Assoc Physicians India. 2025 Apr;73(4):90-92. doi: 10.59556/japi.73.0912.

Abstract

Neurological involvement accounts for <5% of patients with sarcoidosis. Manifestations are often those of the concerning site of affection such as hydrocephalus, transverse myelitis, neuropathy, and neuroendocrine dysfunction. We present a case of a 41-year-old female who presented to the endocrine clinic with complaints of fatigue, weight loss, anorexia, and absent menses for 6 years. She had no other comorbidities or chronic diseases. On examination, she was frail and cachectic [body mass index (BMI): 16.8 kg/m]. Laboratory assessments revealed anemia, leukocytosis, and eosinophilia. Hormone levels of serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), 8 am cortisol, thyroid-stimulating hormone (TSH), and estradiol were low while erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and angiotensin-converting enzyme (ACE) levels were raised. Antinuclear antibody (ANA) titers were normal along with a negative tuberculin skin test. Magnetic resonance imaging (MRI) of the brain revealed features suggestive of empty sella with a 3 mm pituitary. She was diagnosed provisionally to have panhypopituitarism and failure to thrive secondary to granulomatous changes due to sarcoidosis as a possible etiology. She was treated with oral preparations of corticosteroids (prednisolone), ethinylestradiol, levonorgestrel, and thyroxine. At the subsequent visit, after 6 months, she reported improved general condition, weight gain (18 kg), increased appetite, and resumption of menses. Neurosarcoidosis with selective hypophyseal involvement, although a rare affliction, should be considered while investigating possible endocrinopathies among middle-aged females. Additionally, clinical evidence in the absence of tissue evidence also requires precedence, especially in cases where histopathology and imaging may not suffice to prove the existence of a disease.

摘要

神经系统受累在结节病患者中占比不到5%。其表现通常为受累相关部位的症状,如脑积水、横贯性脊髓炎、神经病变及神经内分泌功能障碍。我们报告一例41岁女性,因疲劳、体重减轻、厌食及闭经6年就诊于内分泌门诊。她无其他合并症或慢性疾病。体格检查时,她身体虚弱且消瘦[体重指数(BMI):16.8kg/m²]。实验室检查显示贫血、白细胞增多及嗜酸性粒细胞增多。血清促卵泡生成素(FSH)、促黄体生成素(LH)、上午8点皮质醇、促甲状腺激素(TSH)及雌二醇激素水平较低,而红细胞沉降率(ESR)、C反应蛋白(CRP)及血管紧张素转换酶(ACE)水平升高。抗核抗体(ANA)滴度正常,结核菌素皮肤试验为阴性。脑部磁共振成像(MRI)显示垂体3mm,提示空蝶鞍。初步诊断为全垂体功能减退及发育不良,病因可能是结节病导致的肉芽肿性改变。给予口服皮质类固醇(泼尼松龙)、炔雌醇、左炔诺孕酮及甲状腺素治疗。6个月后的随访中,她报告全身状况改善、体重增加(18kg)、食欲增加且月经恢复。选择性垂体受累的神经结节病虽属罕见疾病,但在调查中年女性可能的内分泌疾病时应予以考虑。此外,在缺乏组织学证据时,临床证据也具有优先性,尤其是在组织病理学和影像学可能不足以证明疾病存在的情况下。

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