title: Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.
abstract: OBJECTIVE
  Optic pathway glioma (OPG) is the most common central nervous system tumor in children with neurofibromatosis type 1 (NF1), affecting 15-20% of patients. We reviewed the medical records of children systematically screened by ophthalmologic and MRI examinations to determine the influence of screening on the therapeutic management of children with OPG.
  
  
  METHODS
  Data were collected on 306 newly diagnosed cases screened with systematic MRI from January 2001 to July 2007. In the OPG group, we distinguished the asymptomatic or symptomatic groups according to their initial status.
  
  
  RESULTS
  Forty-five patients had confirmed OPG (14.7%). Thirty-six patients (80%) were asymptomatic and nine (20%) were symptomatic at the time of diagnosis with visual symptoms in six cases. The average age at OPG diagnosis was 3.4 years with six patients (13%) over six years old. Average follow-up was 7.7 years. Progression was observed in 16 cases (35%). Most patient conditions were managed conservatively (87%). Six children (13%) were treated with chemotherapy due to worsening visual function. All of these children had severe or mild visual impairment at the end of follow-up.
  
  
  CONCLUSIONS
  Our study does not support a clear benefit of systematic MRI screening in NF1 children under six years old. Systematic neuroimaging in our study did not influence therapeutic management. Although OPG diagnosis was made early, treatment with chemotherapy did not improve the final visual outcome. If MRI remains the best tool for the diagnosis of cerebral and spinal pathologies in the NF1 population, our current study questions the usefulness of systematic MRI screening for OPG diagnosis. Conversely, this study suggests that the indication of neuroimaging should be dictated by the results of annual clinical and ophthalmological assessments.
authors.affiliation: Service de neurologie pédiatrique, Hôpital Femme, Mère, Enfant, Bron, France.
authors.forename: Gaelle
authors.initials: G
authors.lastname: Blanchard
authors.affiliation: Hôpital des Enfants, CHU Purpan, Toulouse, France.
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Lafforgue
authors.affiliation: Service de neurologie pédiatrique, Hôpital Femme, Mère, Enfant, Bron, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Lion-François
authors.affiliation: AP-HP, Service de Neurologie Pédiatrique et Centre de Référence des Neurofibromatoses, Hôpital Armand Trousseau, CHU Paris Est, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Kemlin
authors.affiliation: AP-HP, Service de Neurologie Pédiatrique et Centre de Référence des Neurofibromatoses, Hôpital Armand Trousseau, CHU Paris Est, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, Paris, France; Inserm U1141, Paris, France.
authors.forename: Diana
authors.initials: D
authors.lastname: Rodriguez
authors.affiliation: Unité de Neuropédiatrie et Handicaps, Hôpital d'Enfants Gatien de Clocheville, CHU de Tours, France; Inserm, Imagerie et Cerveau, UMR 930, CHRU de Tours, Hôpital Bretonneau, Tours, France; Université de Tours, François Rabelais, Tours, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Castelnau
authors.affiliation: CHRU de Montpellier, Neuropédiatrie & Centre de Référence des Troubles du Langage, Montpellier, France.
authors.forename: Maryline
authors.initials: M
authors.lastname: Carneiro
authors.affiliation: CHRU de Montpellier, Neuropédiatrie & Centre de Référence des Troubles du Langage, Montpellier, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Meyer
authors.affiliation: CHRU de Montpellier, Neuropédiatrie & Centre de Référence des Troubles du Langage, Montpellier, France; Université de Montpellier, UFR de Médecine, Montpellier, France; U1046 Inserm, UMR9214 CNRS, PhyMedExp, Université de Montpellier, Montpellier, France.
authors.forename: François
authors.initials: F
authors.lastname: Rivier
authors.affiliation: Clinique Dermatologique, CHU Hôtel-Dieu, Nantes, France.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Barbarot
authors.affiliation: Hôpital des Enfants, CHU Purpan, Toulouse, France; Inserm, Imagerie Cérébrale et Handicaps Neurologiques UMR 825, CHU Purpan, Toulouse, France; Université de Toulouse III - Paul Sabatier, Toulouse, France. Electronic address: chaix.y@chu-toulouse.fr.
authors.forename: Yves
authors.initials: Y
authors.lastname: Chaix
mesh_terms: D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D055088:Early Detection of Cancer / Q000379:methods*; D005260:Female; D005602:France; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis; D059906:Neuroimaging; D020339:Optic Nerve Glioma / Q000175:diagnosis* / Q000235:genetics
keywords: Children; MRI; Neurofibromatosis type 1 (NF1); Optic gliomas