title: Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1.
abstract: OBJECTIVE
  To establish the prevalence of endocrinologic disorders in children with neurofibromatosis type 1 (NF1) and the relationship between these disorders and cerebral abnormalities on magnetic resonance imaging.
  
  
  METHODS
  A prospective follow-up study. Setting. A multidisciplinary neurofibromatosis clinic.
  
  
  METHODS
  A total of 122 children diagnosed with NF1 according to diagnostic criteria set by the National Institutes of Health.
  
  
  RESULTS
  Central precocious puberty (CPP) was diagnosed in 3 children and growth hormone deficiency (GHD) in 3 children. Optic pathway gliomas were observed in 15 children; in 9 of the 15 cases, the optic chiasm was involved. Of the 3 children with CPP, only 1 showed a chiasma glioma on magnetic resonance imaging. In 1 case with GHD, an optic chiasm glioma was detected on neuroimaging. Two of the 9 children with an optic chiasm glioma presented with CPP or GHD.
  
  
  CONCLUSIONS
  It has been suggested that CPP in children with NF1 is found exclusively in the presence of a chiasma glioma. We conclude that chiasma glioma may not be obligatory in children with NF1 and CPP or GHD. Moreover, we report a prevalence of GHD in children with NF1 of 2.5%, which has not been established earlier.
authors.affiliation: Department of Pediatrics, University Hospital Sophia/Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
authors.forename: M H
authors.initials: MH
authors.lastname: Cnossen
authors.forename: E N
authors.initials: EN
authors.lastname: Stam
authors.forename: L C
authors.initials: LC
authors.lastname: Cooiman
authors.forename: H J
authors.initials: HJ
authors.lastname: Simonsz
authors.forename: H
authors.initials: H
authors.lastname: Stroink
authors.forename: A P
authors.initials: AP
authors.lastname: Oranje
authors.forename: D J
authors.initials: DJ
authors.lastname: Halley
authors.forename: A
authors.initials: A
authors.lastname: de Goede-Bolder
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: S M
authors.initials: SM
authors.lastname: de Muinck Keizer-Schrama
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D003390:Cranial Nerve Neoplasms / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D005500:Follow-Up Studies; D005910:Glioma / Q000175:diagnosis / Q000209:etiology*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000209:etiology*; D011629:Puberty, Precocious / Q000209:etiology*
chemical_list: D019382:Human Growth Hormone