Endocrine Abstracts

Introduction: Diagnosis and treatment of neurosarcoidosis (NS) can be challenging. We describe an unsual presentation of an isolated NS in a 21 year old adult, initially presenting with central diabetes insipidus (DI) associated with a stalk thickening at the age of 14.

Case description: A 21 year old patient was first seen at the department of endocrinology after a 9 years follow-up for panhypopituitarism. He presented at the age of 14 years at the pediatric endocrinology clinic with a central DI, related to a lymphocytic infunduloneurohypophysitis. In the following years, he developed a panhypopituitarism, which was correctly substitued. Yearly MRI of the brain showed no changes of the anterior pituitary and a stable aspect of the infiltration of the stalk for almost 3 years after the initial diagnosis. At transition to adult endocrinology clinic, MRI re-evaluation for headache showed however an extension of the lesion to suprasellar with an involvement of the optic chiasm. A lumbar puncture showed lymphocytic pleiocytosis and elevated protein level, whereas beta-HCG and alpho-fetoprotein were negative. A chest CT only showed few mediastinal adenopathies. An elevated serum angiotension converting enzyme level was documented, whereas antinuclear antibodies and antineutrophil cytoplasmatic antibodies were negative. He was treated empirically with corticosteroids 0.5 mg/kg based on the clinical diagnosis of NS. Three months later, an aggravation of the visual defect in the left eye with a significant increase in the volume of the suprasellar mass on MRI was documented. Furthermore, he developed a Cushing syndrome related to the corticotherapy. Since the corticotherapy did not ameliorate neither the clinical nor the radiological features, a stereotactic brain biopsy was planned. The biopsy showed a granulomatous inflammation, compatible with NS. He was subsequently treated with 3 pulse doses 1gr solumedrol and was started on mycophenolate mofetil 1 g 2x/day. He received in parallel a treatment with low dose radiotherapy. A control MRI of the brain 2 months later, showed a nearly complete involution of the contrast enhancing lesion, but an unchanged thickening of the optic chiasm. MMF was given for 12 months.

Conclusion: Isolated NS is rare in children. This case report is exceptional because of the lag time of almost 9 years between initial symptoms and the finding of an evolutive infiltrative lesion to suprasellar. NS can be the only manifestation of an underlying systemic sarcoidosis, and although good response to corticosteroids in general, addition of other immunomodulators may be necessary.