Growth Hormone Deficit as a First Clinical Manifestation of Early Diffuse Cerebral Glioma in Patient with Neurofibromatosis

Abstract

We presented the case of a 2 years old girl who showed a delay of growth and anorexia. On the examination, the child showed cafe-au-lait spots, altered positioning of the toes of the left foot, squint right eye, and epicanthic folds. Two tests confirmed Growth Hormone (GH) deficiency and genetic test for neurofibromatosis was suggested. The child presented a worsening of anorexia and several crises of hypotonia. MRI brain scan showed a diffuse cerebral glioma. Our case was unusual in presenting of glioma, with a very aggressive course at younger age with involvement of the optic radiations requiring radiotherapy for the same. We would like to point up to the importance of a thorough systemic evaluation of any child presenting with short stature, because the child's arrested growth was the clinical sign that led the parents to consult a specialized center and this triggered a series of diagnostic tests based on the visit and the family's history. Moreover, it is important to stress that MRI is a basic step in the diagnostic pathway of GHD because it can detect organic causes of disease, in particular, the presence of intracranial tumors, as in our case report.