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.
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 1. 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 tumours 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 1.
In result of the inactivation of a tumour suppressor gene, NF1 is also associated with increased incidence of numerous tumours, particularly for the CNS 2-4:
malignant peripheral nerve sheath tumour (MPNST)
- previously known as neurofibrosarcoma
- the overall risk of developing MPNST is ~10% 4
- FASI: focal areas of signal intensity in deep white matter and basal ganglia or corpus callosum 5, i.e. areas of T2/FLAIR hyperintensity with no contrast enhancement
- optic nerve glioma or optic pathway glioma (may manifest as enlarged optic foramen)
- progressive sphenoid wing dysplasia
- lambdoid suture defects
- dural calcification at the vertex
- dural ectasia
- moya-moya phenomenon (rare)
- 1. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6 (4): 340-51. doi:10.1016/S1474-4422(07)70075-3 - Pubmed citation
- 2. Williams VC, Lucas J, Babcock MA et-al. Neurofibromatosis type 1 revisited. Pediatrics. 2009;123 (1): 124-33. doi:10.1542/peds.2007-3204 - Pubmed citation
- 3. Itoh T, Magnaldi S, White RM et-al. Neurofibromatosis type 1: the evolution of deep gray and white matter MR abnormalities. AJNR Am J Neuroradiol. 1994;15 (8): 1513-9. AJNR Am J Neuroradiol (abstract) - Pubmed citation
- 4. Ruggieri M. Neurocutaneous Disorders, Phakomatoses & Hamartoneoplastic Syndromes. Springer Verlag. (2007) ISBN:3211213961. Read it at Google Books - Find it at Amazon
- 5. Koeller KK, Rushing EJ. From the archives of the AFIP: pilocytic astrocytoma: radiologic-pathologic correlation. Radiographics. 24 (6): 1693-708. doi:10.1148/rg.246045146 - Pubmed citation
- neurofibromatosis type 1 (NF1) (von Recklinghausen disease)
- neurofibromatosis type 2 (NF2) (mnemonic)
- tuberous sclerosis (Bourneville-Pringle disease)
- ataxia telangiectasia
- Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
- von Hippel-Lindau disease (retinocerebellar angiomatosis | mnemonic)
- incontinentia pigmenti (Bloch-Sulzberger syndrome)
- basal cell naevus syndrome (Gorlin-Goltz syndrome)
- Wyburn-Mason syndrome (Bonnet-Dechaume-Blanc syndrome)
- encephalocraniocutaneous lipomatosis
- hypomelanosis of Ito
- Nijmegen breakage syndrome
- epidermal naevus syndrome
- neurocutaneous melanosis
- progressive facial hemiatrophy (Parry-Romberg syndrome)
- PHACE syndrome
- Cowden disease/COLD syndrome
- Gomez-Lopez-Hernandez syndrome