Xanthomatous Hypophysitis Is Associated with Ruptured Rathke's Cleft Cyst.

Xanthomatous hypophysitis is a rare inflammatory disease of the pituitary gland that can mimic a neoplastic lesion clinically and radiologically. Its pathogenesis remains largely unknown, although recent evidence suggests that pituitary inflammation may occur as a secondary reaction to mucous content released from a ruptured cyst. In a series of 1221 pituitary specimens, we identified seven cases of xanthomatous hypophysitis. Six patients had complete radiological and biochemical workup preoperatively: a cystic-appearing pituitary mass was identified in all six patients (100%) with a mean size of 2.0 cm (range 1.4-2.5 cm) on imaging, and pituitary endocrine dysfunction was noted in five patients (83.3%). In all cases, the pituitary mass was resected through an endoscopic transsphenoidal approach. Pathological examination revealed the presence of foamy macrophages admixed with variable amounts of giant cells and chronic inflammatory cells, confirming the diagnosis of xanthomatous hypophysitis. Additionally, all cases presented with concurrent findings of ruptured Rathke's cleft cyst, with the exception of one patient who had previous surgery for a Rathke's cleft cyst, followed by recurrence and diagnosis of xanthomatous hypophysitis. While accurate distinction of hypophysitis from a pituitary neoplasm can be problematic in the preoperative setting, the identification of a cystic lesion in the sella turcica should raise the possibility of such an entity in the clinical and radiological differential diagnosis. The current series provides further evidence that xanthomatous hypophysitis predominantly occurs as a secondary reaction to a ruptured Rathke's cleft cyst; thus, it is best classified as a secondary (reactive) hypophysitis.

Neurofibromatosis Clinic: A Report on Patient Demographics and Evaluation of the Clinic.

BACKGROUND: Neurofibromatosis type 1 (NF1) is a common single-gene disorder. A multidisciplinary approach to the management of NF1 patients is necessitated by the heterogeneity of clinical manifestations. Although multidisciplinary paediatric clinics have been well established, there is a dearth of such resources for adults with NF1. Herein we report our one-year institutional experience with a multidisciplinary adult NF1 clinic. METHODS: A multidisciplinary team was assembled, and an NF Patient Registry Initiative questionnaire was adapted to collect patient-reported data during clinics. Multiple databases were searched to identify publications pertaining to the experience of other multidisciplinary NF1 clinics focusing on adult patients. Data on patient epidemiology and clinical staff were compared to our data. RESULTS: A total of 77 patients were scheduled, and 68 attended the clinic, of whom 66 completed the intake questionnaire. The demographic and clinical data from this Canadian population are mostly consistent with previous reports, with some exceptions. Clinical data related to immune system involvement such as asthma, airway/breathing-related difficulties or allergies were striking in our NF1 population. Six relevant published reports of other NF1 clinics were identified. Reports from these studies pertained to periods ranging from 10 to 38 months, and the number of adults assessed ranged from 19 to 177 patients. CONCLUSIONS: The structure of our clinic and the patient volume are comparable to those of other established centres found in the literature. Our data offer valuable cross-sectional prevalence statistics in the Canadian population. The patient-reported data concerning involvement of the immune system contribute to an emerging recognized medical concern within the NF1 population and warrant further clinical and basic investigation.