Introduction: Langerhans cell histiocytosis is a rare disease with clonal proliferation of Langerhans histiocytes or their precursors. It is characterized by the infiltration of lipid-laden histiocytic cells or foam cells in skin, viscera, and bone.
Case report: We report a case with gradual onset of polyuria and polydipsia when she was 18 years old. Central diabetes insipidus was diagnosed. Pituitary magnetic resonance imaging (MRI) revealed mild prominent pituitary stalk. Desmopressin was prescribed. Nine years later, progressed photophobia, blurred vision, headache and galactorrhea developed. Pituitary MRI revealed a 0.6 cm infundibular nodule with hypothalamus involvement and perifocal edema. She received Gamma knife therapy. Her symptoms improved and the size of the pituitary lesion decreased.
A palpable mass over right retromandibular region was found when she was 29 years old. Aspiration cytology showed histiocytes. Excision biopsy reported Langerhans cell histiocytosis. Bone scan revealed osteolytic lesions at T10 level of vertebra. Whole body computed tomography reported bronchiectasis at bilateral lung base with multiple tiny nodules and some minor cystic-like lesions. She received adult Langerhan cell histiocytosis LCH-A1 protocol therapy with vinblastine and prednisolone. Radiotherapy over T10 spine was performed. She was kept on hormone supplement for panhypopituitarism. The right neck mass and pulmonary cystic lesions shrank gradually.
Swelling over thyroid gland was noted several months later. Fine needle aspiration cytology from the thyroid revealed infiltration of Langerhans cell. The thyroid size decreased after intensive chemotherapy and radiotherapy.
Conclusion: Langerhans cell histiocytosis is a rare cause of central diabetes insipidus. It can sometimes involve multiple organs, including pituitary, lung, liver, spleen, long bones and dorsolumbar spine. Systemic chemotherapy and hormone supplement should be considered in these patients. Endocrine deficiency often requires lifelong supplement.
03 - 07 May 2014
European Society of Endocrinology