Imagerie de la neurofibromatose de type 1

Neurofibromatosis type 1 (NF1) is the most common phakomatosis and neurofibromatosis, with an incidence of 1 per 2500 births. This autosomal dominant disease is characterized by tumors affecting the skin, the brain and the peripheral nerves, and by bone and vascular dysplasia. The most characteristic skin lesions of the disease are café au lait spots and cutaneous neurofibromas. Deep neurofibromas cause various complications, the most serious being degeneration of malignant peripheral nerve sheath tumors, the leading cause of premature disease-related mortality. Optic gliomas are slow-growing pilocytic astrocytomas that occur in children. Brain hamartomas are common, benign and disappear after the age of 20. Dystrophic scoliosis is often associated with neurofibromas and dural dysplasia, and causes orthopedic and neurological complications. Vascular dysplasia leads to progressive arterial stenosis, mainly in the brain and the kidneys. The severity of the disease varies widely from patient to patient and is unpredictable. Imaging has an important role in confirming the diagnosis and detecting complications that occur mostly in childhood.