Hypothalamic involvement of sarcoidosis presenting with behavioral disorder

Abstract

Introduction

Sarcoidosis is an idiopathic, chronic, disease with non-caseating granuloma formation. Central nervous system (CNS) involvement (neurosarcoidosis) is observed in 5–15% of cases. Hypothalamic–pituitary (HP) neurosarcoidosis (NS) accounts for 0.5% cases of sarcoidosis. We present a case of hypothalamic-pituitary sarcoidosis with compulsive behaviors, diabetes insipidus and pan-hypopituitarism.

Clinical Case

A 43-year-old male patient was admitted to our clinic with complaints of fatigue, polydipsia, erectile dysfunction for 1 month, as well as compulsive behaviors such as excessive shopping, exercise and hyperphagia. In his history, it was learned that he had been diagnosed with sarcoidosis 1 year ago, based on skin biopsy and clinical examination, and discontinued the treatment. On physical examination, erythematous lesions were observed on the face and back. Multiple lymphadenopathies (LAP) of 2 cm in size were palpated in the axilla and inguinal region. The patient's neurological examination was normal. MRI of the brain showed heterogeneous enhancement of the gland parenchyma posteriorly. In sagittal sections, an area that is not contrasted to the gland base is selected. (Fig. 1) The infundibulum is markedly thick and shows enhancement, and in its continuity, similar thickening and enhancement are observed in the hypothalamus. Due to the thickening of the infundibulum, the optic chiasm appears to be spread on both sides. Differential diagnosis was TB, sarcoidosis and lymphoproliferative disease.

Pituitary function showed free T4 0.53 ng/ml (normal 0.93–1.7), TSH 0,89 μIU/ml (normal 0.27–4.2), FSH 0.87 milliunit/ml (normal 1–11), LH <0.55 milliunit/ml (normal 1–8), ACTH 1,5 pg/ml (normal 7.2–63), Cortisol 3,59 μg/dl Prolactin 14.3 ng/ml (normal 0.5–17), total testosterone 2,5 ng/ml (normal 37–198). He tested negative for ANA, HIV, Hepatitis C, Mycobacterium TB Interferon-Gamma. The patient underwent skin biopsy and excisional lymph node biopsy. Non-necrotizing granulomas found at biopsy samples. He was started on desmopressin, methylprednisolone, levothyroxine. Patient had significant improvement following treatment.

Conclusion

Neurosarcoidosis may present with various clinical features depending on the anatomical location of the disease. Hypogonadotropic hypogonadism, diabetes insipidus, amenorrhea and anterior pituitary insufficiency are the most common endocrine findings. Hypothalamic findings such as changes in thirst, disturbance in thermoregulation, changes in appetite and body weight without diabetes insipidus have been reported in case reports. Although it is a rare condition, symptoms of hypothalamic-pituitary changes, can be seen in sarcoidosis and are an indication for treatment. It requires long-term management by a multidisciplinary team of patients.