Pituitary Adenoma Coexisting with Neurofibromatosis Type 1 in Childhood. A Case Report

Herein we present a very rare case associating a non-functioning pituitary adenoma (PA) with neurofibromatosis type 1 (NF1). Our female patient presented at the age of one bilateral telarche and at the age of five she developped adrenarche, pubarche and menarche. FH and FSH values are those for adults (2,1 and 0,1 mIU/mL respectively), estradiol level was elevated (18,1 pg/mL) and bone age was slightly increased. Initial imaging investigation showed a normal sella turcica on lateral skull X-ray but CT objectived a milimetric cystic lesion above the pituitary gland, confirmed by MRI.The patient was diagnosed as a real precocious puberty and start suppressive gonadotrophin therapy. Yearly clinical, hormonal and image monitoring showed no progress of the lesion so periodic active surveillance was our preferable attitude. At the age of 12 the appearance of café-au-lait spots which have progressively invaded the trunk, the face and the upper limbs was noted; to these, axillary freckling and pathognomonic presence of Lisch nodules was added. Therefore the diagnosis of our patient was completed with that of neurofibromatosis type 1. After 16 years the patient continued annually her follow-up in both pediatric and endocrinology clinics performing periodic clinical, biological and MRI examinations in order to monitor both lesions. Her physical and intellectual development is appropriate, attends a vocational school and have an almost normal social existence. Comorbidities in pediatric patients, wherein frequently at least one component is congenitally, may have an unusual course with higher risks of complications and are less responsive to current therapies. Among these eventualities the association between an endocrine neoplasm as PA and a genetic disorder like NF1 are true pathological exceptions. To our knowledge the present case represent the first appearing in early childhood.