Hypothalamic diabetes insipidus and panhypopituitarism due to Langerhans cell histiocytosis in an adult

Langerhans cell histiocytosis (LCH) is a rare granulomatous disease of unknown etiology that formerly was known as histiocytosis X. It affects more commonly infants and women and can be localized, multifocal, or disseminated. Here we present the case of a 31-year-old woman who was referred to our hospital because of a 3-year history of polyuria, polydipsia, nocturia, secondary amenorrhea, and a weight gain of 24 kilos in 3 months. In the beginning, she presented with painful ulcerative lesions of the palate and gums. A year before, the same lesions appeared in the vulva and the perianal region. Physical examination revealed a body mass index of 33 kg/m(2), There were hypertrophic erythematous ulcerative lesions in the vulva and perineum. These lesions also were found in the palate and in the gums, resulting in gum retraction. She also had hepatomegaly and bilateral galactorrhea. The fundoscopic examination was normal, as were the visual fields. Urinalysis was negative. However, the patient could not concentrate her urine in response to water deprivation but was able to concentrate after antidiuretic hormone administration. The diagnosis of central diabetes insipidus was made. Pituitary hormone measurements revealed panhypopituitarism, and an MRI showed an expansive hypothalamic lesion without a clear plane of separation from the optic chiasm. Gadolinium induced a hyperintense signal with homogenous distribution of the contrast. Biopsy confirmed the diagnosis of Langerhans histiocytosis. Hormonal replacement with DDAVP and levothyroxine was initiated. Glucocorticoids were prescribed only during stress. Chemotherapy was initiated to treat the underlying disease. LCH should be considered in any patient with the combination of hypopituitarism and diabetes insipidus.