NIV Congres

Case report: A 24-year old man was admitted to our hospital. His medical history revealed sarcoidosis since two years, with generalized lymphadenopathy, pulmonary and sinonasal involvement. He was treated with corticosteroids until one year ago. He presented with complaints of fatigue, polydipsia, polyuria, dizziness, bloody rhinorrhea and erectile dysfunction for several months. Physical examination showed no abnormalities, except for orthostatic hypotension. Laboratory investigation showed normal electrolytes and kidney function, but signs of hypopituitarism, with a decreased free T4 (8.2 pmol/l), normal TSH (3.7 mlU/l), decreased random cortisol (0.03 µmol/l), decreased ACTH (1,4 pmol/l ), decreased LH (< 0.10 IU/l), low testosterone (< 0.10 nmol/l), decreased growth hormone (1.4 mIU/l), low-normal IGF-1 (13 nmol/) and increased prolactin level (903 mIU/l). Collection of urine showed a total volume of 5 liters in 24 hours and a low urine osmolality. The concentration of soluble interleukine-2-receptor (SIL-2) was elevated (5870 pg/ml). A recently performed high resolution CT scan of the chest showed stable disease with pulmonary nodules, hilar and mediastinal lymphadenopathy, due to sarcoidosis. A MRI of the brain showed thickening of the pituitary stalk and the hypothalamus and also significant mucosal swelling and fluid in both maxillary sinuses. Neurosarcoidosis with involvement of the pituitary-hypothalamic region was considered because of the hypopituitarism in combination with the MRI abnormalities in a patient with histological proven sarcoidosis at multiple sites. Complete hormonal substitution was started, with testosterone, levothyroxine, hydrocortisone and desmopressin. The clinical condition of the patient improved. In consultation with the pulmonologist and neurologist, corticosteroids were started.

Discussion: Involvement of the central nervous system occurs in approximately 5-10% of the patients with sarcoidosis. In most cases, lesions are localized in the leptomeninges, cranial nerves or the pituitary-hypothalamic region. In hypothalamic-pituitary sarcoidosis hypogonadism, TSH deficiency, diabetes insipidus and hyperprolactinemia are most frequent endocrine disorders. There is a positive association between hypothalamic-pituitary and sinonasal sarcoidosis. The pathogeny of this association is unclear, but might result from contiguous extension of granulomas. There is a consensus that patients with neurosarcoidosis should be treated with corticosteroids. Under corticosteroid treatment radiologic lesions can disappear or improve, but most hormonal deficiencies are irreversible.

Conclusion: In sarcoidosis patients with sinonasal or ophthalmologic involvement, the clinician should be alert to the possibility of hypothalamic-pituitary involvement, with partial or complete hypopituitarism as a consequence. Although it is unclear if early detection and treatment could avoid irreversible hormonal deficiencies, hormonal substitution will improve quality of life.