Neurofibromatosis type 1 (CNS manifestations)

Central nervous system manifestations of Neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are relatively common among these patients and has a variety of expressions.

For a general discussion of the underlying condition, please refer to the article NF1.

Clinical presentation

NF1 is a complex multi-systemic disease with a broad range of expression and unpredictable behavior.

Cognitive disability is the commonest neurological symptom described in children with this disease, and it does not improve in adulthood . A broad spectrum of neurological symptoms may be related to cerebrovascular conditions, malformations, and CNS tumors related to NF1.

The gliomas occur in all parts of the brain, with a predilection for the optic pathways, brainstem, and cerebellum. Many tumors are asymptomatic, but visual disturbances,  precocious puberty, acute hemiplegia or focal neurological deficits may manifest.

Multiple sclerosis and epilepsy have also been described in association with NF1 .


In result of the inactivation of a tumor suppressor gene, NF1 is also associated with increased incidence of numerous tumors, particularly for the CNS :

Radiographic features