Short stature and neurofibromatosis type 1 issues of diagnosis
Letitia Leustean, Cristina Hurjui, Cristina Preda, Carmen Vulpoi, Liliana Moisii & Eusebie Zbranca
Neurofibromatosis type 1 (NF1) is an inherited disorder characterized by formation of neurofibromas in the skin, brain and other parts of the body, in association with skin pigment changes. It is well known that this condition may be a risk factor for short stature with growth hormone deficiency (GHD) in children, due to suprasellar lesions. We present the case report of a 9-year-old boy admitted in our Service for short stature (-2DS). Physical examination revealed café-au-lait spots, underarm and inguinal freckles (the same as his father and great father). No neurofibromas were found. The ophthalmologic exam was normal: no evidence of Lisch nodules or optic glioma. Psychological evaluation was also normal (IQ=105). The serum GH levels were low (1.7 ng/dl), with no response to exercise test (1.3 ng/dl) and with inappropriate response to arginine provocative test (2.3 ng/dl). The serum levels of IGF-1 were low (25 ng/dl). Magnetic resonance imaging demonstrated no intrasellar mass lesion, but foci involving the cerebellum, globus pallidus and cerebral pedunculy. The final diagnosis was pituitary dwarfism and NF1, but with no connection between the two. The presence of GHD in short children with NF1 independent of organic, pituitary change is frequently quoted in the literature, the latest studies suggesting that NF1 could represent a novel etiology for GHD.