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Neurofibromatosis Type 1 in a Pediatric Population: Ste-Justine's Experience

  • J.M. Boulanger (a1) and A. Larbrisseau (a1)
Abstract:
Background:

To date, few pediatric series of neurofibromatosis type 1 (NF-1) have been described in the literature even though it is the most frequently encountered phakomatosis.

Methods:

We reviewed 987 charts of pediatric patients with a presumptive diagnosis of NF-1 who were evaluated at Ste-Justine hospital from January 1, 1991 to July 31, 2002. Patients who presented with two or more cardinal criteria were diagnosed with NF-1. Clinical and laboratory data were retrospectively collected, including: demographics, neuroimaging and presence or absence of associated symptoms or signs of NF-1.

Results:

A total of 279 patients were diagnosed with NF-1. The mean age at diagnosis was 3.4 years. Ninety-nine percent of the patients had café au lait spots and 47% had a first degree relative with NF-1. Almost 60 percent (59.6%) of those seen by an ophthalmologist had Lisch nodules. Optic glioma was found in in 14.7%, cutaneous neurofibromas in 38.4%, plexiform neurofibromas in 24.7%, neurofibrosarcoma in 1.8%, learning disabilities in 39%, attention deficit disorder in 40.5%, osseous dysplasias in 7.2%, pseudoarthrosis in 3.6%, precocious puberty in 3.2% and short stature in 17.9%. Magnetic resonance, when performed, showed hyperintense T2 lesions in 87.1% of cases. The mean period of follow-up was 7.4 years.

Conclusion:

Neurofibromatosis type 1 is a multisystemic disorder associated with increased risk of malignancy. It can be diagnosed at a very young age and clinical follow-up is advised. To our knowledge, this is the largest single center study of NF-1 in a pediatric population.

RÉSUMÉ: Introduction:

Bien que la neurofibromatose de type 1 (NF-1) soit la phacomatose la plus fréquente, peu de séries de patients d’âge pédiatrique atteints de NF-1 ont été rapportées dans la littérature.

Méthodes:

Nous avons revu 987 dossiers de patients d’âge pédiatrique chez qui l’hypothèse retenue quant au diagnostic était la NF- 1, qui ont été examinés à l’hôpital Ste-Justine entre le 1er janvier 1991 et le 31 juillet 2002. Un diagnostic de NF-1 était posé si les patients présentaient deux critères cardinaux ou plus de la maladie. Les données cliniques et les résultats d’investigations suivants ont été colligés rétrospectivement: les informations démographiques, la neuroimagerie et la présence ou l’absence de symptômes ou de signes associés de la NF-1.

Résultats:

On a posé un diagnostic de NF-1 chez 279 patients. L’âge moyen des patients au moment du diagnostic était de 3,4 ans. Quatre-vingt-dix-neuf pour cent des patients avaient des taches café au lait et 47% avaient un apparenté au premier degré atteint de NF-1. À peu près soixante pour cent (59,6%) de ceux qui ont été examinés par un ophtalmologiste avaient des nodules de Lisch. Un gliome optique était présent chez 14,7%, des neurofibromes cutanés chez 38,4%, des neurofibromes plexiformes chez 24,7%, un neurofibrosarcome chez 1,8%, des troubles d’apprentissage chez 39%, un trouble de déficit de l’attention chez 40,5%, des dysplasies osseuses chez 7,2%, une pseudarthrose chez 3,6%, une puberté précoce chez 3,2% et une insuffisance staturale chez 17,9%. Chez ceux qui ont subi une imagerie par résonance magnétique, on a observé des lésions hyper intenses en T2 chez 87,1% des cas. Le suivi moyen était de 7,4 ans.

Conclusion:

La neurofibromatose de type 1 est une maladie multisystémique associée à un risque accru de cancer. Le diagnostic peut être fait en très bas âge et un suivi s’impose. À notre connaissance il s’agit de la plus grande étude de patients pédiatriques atteints de NF-1 effectuée dans un même centre.

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Canadian Journal of Neurological Sciences
  • ISSN: 0317-1671
  • EISSN: 2057-0155
  • URL: /core/journals/canadian-journal-of-neurological-sciences
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