[Neurofibromatosis type 1 in children].
We describe the clinical findings in 75 children with neurofibromatosis type 1 (NF-1, von Recklinghausen disease) diagnosed by the National Institute of Health criteria. The children were on average three years old at the time of their diagnosis. In 12 children complications of NF-1 were noted before diagnosis of their underlying condition, and half of the children had a serious complication, including intracranial tumour, optic glioma, scoliosis, pseudarthrosis tibiae, or mental handicap. Most complications of NF-1 occur before the age of ten. Therefore, and because of its severity and multifaceted presentation, children with NF-1 might benefit from follow-up in a multidisciplinary, specialized clinic.
Lund
A M
AM
Børneafdeling GGK, afsnit for klinisk genetik, Rigshospitalet, København.
Skovby
F
F
D002648:Child; D005500:Follow-Up Studies; D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis*; D012189:Retrospective Studies
Neurofibromatose type 1 hos børn.