title: Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report.
abstract: METHODS
  We describe the case of a 3-year-old child, diagnosed with familial neurofibromatosis type 1 (NF1) and asymptomatic optic pathway tumor at the age of two, who developed diencephalic syndrome (DS) due to tumor progression 1 year after diagnosis. Magnetic resonance imaging disclosed an enlarging hypothalamic contrast-enhanced mass. Because of the tumor progression, in terms of tumor volume and DS, chemotherapy (CT) treatment was started according to the international protocol for progressive low-grade glioma, with rapid clinical improvement in terms of gain weight and DS resolution. Interestingly, tumor volume was unchanged after CT.
  
  
  CONCLUSIONS
  This case report highlights the following facts: (1) optic pathway glioma (OPG) in young children with NF1 may have definitive growth potentials and thus, they are worth an accurate clinical follow-up; (2) also, OPG occurring in NF1 patients can be responsible for DS in case of hypothalamus involvement; (3) consequently, the child's growth pattern must be included among the clinical parameters, which must be specifically evaluated during the follow-up of children, with or without NF1, bearing an OPG; and, finally, (4) that DS can improve after CT, even in face of a stable tumor volume.
authors.affiliation: Department of Woman and Child Health, University Hospital of Padua, Via Giustiniani 3, 35128, Padua, Italy.
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Cavicchiolo
authors.forename: Enrico
authors.initials: E
authors.lastname: Opocher
authors.forename: Marco
authors.initials: M
authors.lastname: Daverio
authors.forename: Matteo
authors.initials: M
authors.lastname: Bendini
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Viscardi
authors.forename: Gianni
authors.initials: G
authors.lastname: Bisogno
authors.forename: Giorgio
authors.initials: G
authors.lastname: Perilongo
authors.forename: Liviana
authors.initials: L
authors.lastname: Da Dalt
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002675:Child, Preschool; D018450:Disease Progression; D005183:Failure to Thrive / Q000209:etiology*; D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000188:drug therapy; D020339:Optic Nerve Glioma / Q000150:complications* / Q000188:drug therapy / Q000473:pathology