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

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/m²]. 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.