Endocrine Abstracts

Langerhans cell Histiocytosis is a rare neoplastic histiocytic disorder. It has broad spectrum of clinical presentations from single system to multi system. It mainly affects children but can occur in adults. It can present with skin lesions, skull/jaw tumours, polyuria/polydipsia, fever, cough and dyspnea, bone pain, ataxia etc. 25% of adult cases involve Pituitary (anterior and posterior pituitary gland) and hypothalamus. BRAF and MAP2K1 mutations are most commonly detected. We present a rare case with hepatic & pituitary involvement: A 46 year old female presented with headache and light-headedness for 4 weeks with an up going plantar. She underwent CT head- showing 13×11 mm suprasellar mass with optic chiasm compression and enlargement of pituitary stalk. On examination she had Right superior quadrantanopia. She had abnormal liver function tests and CT scan of liver showed multiple hyper attenuating lesions. It was discussed in MDT to arrange MRI of liver. Tumour markers and autoimmune screen was performed which was normal. She was reviewed by Endocrine team and her pituitary bloods revealed pan hypopituitarism. She was started on hydrocortisone & levothyroxine 100 mg OD. She was found to have diabetes Insipidus and was given Desmopressin. A stereotactic biopsy of suprasellar mass was performed which revealed striking infiltration of eosinophils and macrophage like cells with grooved or folded nuclei –suggestive of Langerhans cell histiocytosis (BRAF WILD TYPE). She had 4 cycles of Cladribine subcutaneous chemotherapy with good response. Repeat pituitary MRI showed unchanged hypothalamic lesion.

Conclusion: Langerhans cell Histiocytosis is a rare but important differential diagnosis in patients with pituitary mass. It affects people of all ages and has variable clinical manifestations. A careful history, examination, lab investigations, imaging and biopsy can lead to the proper diagnosis.