Neurofibromatosis Type 1 in Children: A Single-Center Experience

Area of Science:

• Pediatric Neurology
• Genetics
• Dermatology

Background:

• Neurofibromatosis type 1 (NF-1) is a common genetic disorder.
• It is an autosomal dominant neurocutaneous syndrome.
• Key features include café au lait spots, freckling, neurofibromas, and optic pathway gliomas.

Purpose of the Study:

• To analyze the clinical manifestations of NF-1 in a pediatric cohort.
• To identify common symptoms and complications in children diagnosed with NF-1.

Main Methods:

• Retrospective evaluation of pediatric patients diagnosed with NF-1 between 2000 and 2020.
• Analysis of demographic and clinical data.

Main Results:

• The study included 52 children (25 boys, 27 girls) with a median age of 5.9 years at diagnosis.
• Café au lait spots (96%) and freckling (46%) were most common.
• Other findings included neurofibromas (42%), optic gliomas (19%), cranial hamartomas (75%), orthopedic complications (25%), and neurocognitive disorders (21%).

Conclusions:

• Early diagnosis of NF-1 is vital for preventing disease progression and complications.
• Long-term monitoring for neurological development and secondary malignancies is essential for affected children.