Gaelle Blanchard1, Marie-Pierre Lafforgue2, Laurence Lion-François1, Isabelle Kemlin3, Diana Rodriguez4, Pierre Castelnau5, Maryline Carneiro6, Pierre Meyer6, François Rivier7, Sébastien Barbarot8, Yves Chaix9. 1. Service de neurologie pédiatrique, Hôpital Femme, Mère, Enfant, Bron, France. 2. Hôpital des Enfants, CHU Purpan, Toulouse, France. 3. AP-HP, Service de Neurologie Pédiatrique et Centre de Référence des Neurofibromatoses, Hôpital Armand Trousseau, CHU Paris Est, Paris, France. 4. 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. 5. 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. 6. CHRU de Montpellier, Neuropédiatrie & Centre de Référence des Troubles du Langage, Montpellier, France. 7. 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. 8. Clinique Dermatologique, CHU Hôtel-Dieu, Nantes, France. 9. 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.
Abstract
BACKGROUND/ PURPOSE: 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. CONCLUSION: 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.
BACKGROUND/ PURPOSE: 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. CONCLUSION: Our study does not support a clear benefit of systematic MRI screening in NF1children 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.
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