Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience.
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.


CONCLUSIONS
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.
Boulanger
J M
JM
Division of Pediatric Neurology HSJ, Department of Pediatrics, Montreal University, Montreal, QC, Canada.
Larbrisseau
A
A
D000293:Adolescent; D017668:Age of Onset; D001847:Bone Diseases / Q000453:epidemiology* / Q000473:pathology / Q000503:physiopathology; D001848:Bone Diseases, Developmental / Q000453:epidemiology; D019080:Cafe-au-Lait Spots / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000453:epidemiology; D015331:Cohort Studies; D015897:Comorbidity; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D009369:Neoplasms / Q000453:epidemiology* / Q000473:pathology / Q000503:physiopathology; D017253:Neurofibromatoses / Q000453:epidemiology; D009456:Neurofibromatosis 1 / Q000453:epidemiology* / Q000473:pathology / Q000503:physiopathology; D018319:Neurofibrosarcoma / Q000453:epidemiology; D020339:Optic Nerve Glioma / Q000453:epidemiology; D011792:Quebec / Q000453:epidemiology; D012189:Retrospective Studies