Endocrine Abstracts

Langerhans Cell Histiocytosis is an inflammatory myeloid neoplasia caused by mutations of several genes in the MAPKinase (MAPK) pathway which can present in single or multiple sites. Our patient presented to her GP with several months of amenorrhoea, thirst, tiredness and 3 stone weight loss. She was previously fit and well, working, and married with children. Blood tests revealed panhypopituitarism with low 9am cortisol 117 nmol/l (133-537). Oestrogen and gonadotrophins were low as were free T4 and TSH. Prolactin was raised 2767mU/l (102-496). MRI brain showed a 19 x 11 x 14 mm ill-defined heterogenously enhancing mass centred on the hypothalamus with compression of the pituitary stalk. She was started on replacement hydrocortisone and levothyroxine. She subsequently developed diabetes insipidus and was started on desmopressin. Lumbar puncture and CSF analysis were normal apart from raised lymphocytes. CT chest abdomen and pelvis was normal with no evidence of sarcoidosis. IgG4 subclass 4 level was normal (0.04G/l (0.04-0.86). She was referred to our local neurosurgical team who recommended 3 months surveillance whereupon FDG-PET CT scan showed a 20x15 mm focal mass with no lesions elsewhere. Given the rapid enlargement of the lesion and also a new clinical development of confusion, transphenoidal biopsy was arranged. Immunohistochemistry studies confirmed Langerhans Cell Histiocytosis. She was referred to haematology and discussed with the National Histiocytosis Advisory Panel. She was started on Clabridine and there was a reduction in size of the hypothalamic lesion indicating good response to treatment over 4 months. Unfortunately despite apparent improvement radiologically there was a deterioration in the patient’s clinical state with increasing confusion and considerable weight gain with associated comorbidy such that she became unable to live independently.