Endocrine Abstracts

Introduction: Neurofibromatosis type 2 (NF2) is an autosomal dominant genetic disorder that cause a growth of noncancerous tumors in the nervous system, it associates cranial schwannomas, meningiomas, and skin and ophthalmologic lesions. It is a rare condition and its association with an intrasellar arachnoidocele has not been reported yet. We report the case of a patient who presents a NF2 associated with hypopituitarism related to an intrasellar arachnoidocele.

Case presentation: It was a 37-year-old, patient referred for symptoms of hypopituitarism. She reported galactorrhea, menses return, constipation, weight loss, asthenia and frequent hypoglycaemia. On physical examination, she presented café-au-lait spots, dry skin with neurofibromas, body hair loss and hypoactive deep tendon reflexes. Biologically, cortisol and FT4 levels were very low at <2 ng/ml (reference : 50 - 180 ng/ml) and 1.38 pmol/l (reference: 9-22 pmol/l) respectively. TSH was 5.86 uUI/ml (reference: 0.27-4.2). The patient received hydrocortisone and L-thyroxine. A hypothalamic-pituitary MRI showed complete atrophy of the pituitary parenchyma with intrasellar arachnoidocele, a meningioma of the foramen magnum and an acoustic neurinoma. The association of a unilateral acoustic neuroma and café au lait spots with skin neurofibromas and a meningioma led to the diagnosis of NF2.

Conclusion: NF2 can cause fluid buildup in the brain, but its association with intra sellar arachnoidocele and hypopituitarism has never been reported.

The prognosis of the disease is reserved and its management requires a multidisciplinary team.