Related Experiment Video
Updated: Aug 12, 2026

Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models
Published on: May 17, 2024
[Neurofibromatosis type 1 in children]
Insights
Neurofibromatosis type 1 (NF-1) often presents serious complications in children before age ten. Early diagnosis and multidisciplinary care are crucial for managing this condition.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
Abstract:
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.
More Related Videos
Related Concept Videos
Neurulation
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

