Endocrine Abstracts

Introduction: Langerhans cell histiocytosis (LCH) is a multisystem neoplastic disease with primarily bone and skin involvement. Although its pathogenesis is still not fully understood, LCH lesions contain clonal CD 207+ dendritic cells with the frequently identified BRAF V600E mutation and an inflammatory component. Although isolated central nervous system involvement is extremely rare, a common site of involvement is the hypothalamic-pituitary axis.

Case: A 35-year-old female patient applied to us with complaints of headache, excessive water retention, vomiting, weakness and amenorrhea in the last two months. There was no additional disease in his medical history other than hyperlipidemia. There was no history of previous surgery or head trauma. On physical examination, there was a fluctuating disorientation in place and time. The patient had panhypopituitarism and hypernatremia at the time of admission. It was determined that the patient, who was subjected to water restriction, had central diabetes insipidus. Contrast-enhanced cranial MRI revealed 19x10x17 mm a mass in the hypothalamus and diffuse contrast enhancement. PET-CT showed increased FDG uptake in the pituitary locus (SUV-max: 19.4), posterior of the left mastoid (SUV-max: 12.4) and hepatıc segment 8 (SUV-max 8.4). Temporal MRI showed mass lesions extending to the petrous sinus with signal characteristics similar to hypothalamic lesions. Liver dynamic MRI showed T2A hyperintense lesions with progressive contrast enhancement, the largest of which was 12 mm in diameter in the subcapsular area of segment 8. Thereupon, the patient underwent mastoid and liver biopsy. The biopsy result showed widespread monocyte infiltration with acidophilic cytoplasm and stained pozitifly with S100 and CD1a. The patient was referred to the oncology clinic for treatment.

Conclusions: Multisystemic diseases such as Langerhans cell histiocytosis should be considered in the differential diagnosis of patients with a hypothalamic mass, and other systemic involvements should also be investigated.