Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome

Abstract

Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily focuses on the dermatological lesions that accompany the syndrome and not on growth hormone (GH) treatment. Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD.

Figure 1. Physical findings of the patient suggestive of both neurofibromatosis 1 and Noonan syndrome

Figure 2. Cranial magnetic resonance imaging of the patient showing the lesions of neurofibromatosis in the cerebral peduncles and globus pallidus and adenopituitary hypoplasia in the pituitary

Figure 3. Growth chart of the patient under growth hormone therapy. Source: http:/www.cdc.gov/growth charts (Centers for Disease Control and Prevention (CDC) 2000)