Neurofibromatosis

Overview

Neurofibromatosis is a genetic condition causing nerve tumours (neurofibromas) to form anywhere in the nervous system, including the brain, spinal cord, and peripheral nerves. These tumours are typically benign but can affect nerve function, resulting in diverse symptoms, including skin changes, neurological complications, and skeletal abnormalities.

At the Royal Buckinghamshire Hospital, we provide specialist neurological assessment, treatment, and comprehensive rehabilitation support for individuals living with neurofibromatosis, ensuring personalised care tailored to each patient’s unique needs.

Types of Neurofibromatosis

There are two main types:

• Neurofibromatosis Type 1 (NF1): Most common, often characterised by skin changes and tumours on nerves.
• Neurofibromatosis Type 2 (NF2): Less common, typically causing tumours in the brain and on nerves associated with hearing and balance.

Causes of Neurofibromatosis

Neurofibromatosis is caused by genetic mutations:

• NF1 is due to mutations in the NF1 gene.
• NF2 is due to mutations in the NF2 gene.

Both can be inherited from parents or occur spontaneously without a family history.

Symptoms of Neurofibromatosis

Symptoms depend on the type and severity of the condition:

NF1 Symptoms:

• Café-au-lait spots (light brown skin patches)
• Neurofibromas (benign nerve tumours) on or under the skin
• Freckling in skin folds (armpits, groin)
• Learning difficulties and behavioural problems
• Bone deformities, such as scoliosis
• Vision problems due to optic nerve tumours

NF2 Symptoms:

• Hearing loss or tinnitus (ringing in ears)
• Balance difficulties (vestibular tumours)
• Weakness or numbness in the arms or legs
• Cataracts and visual disturbances
• Tumours affecting the brain or spinal cord, causing various neurological symptoms

Diagnosis

Our specialists at the Royal Buckinghamshire Hospital use thorough diagnostic evaluations, including:

• Clinical examination identifying characteristic symptoms
• Genetic testing to confirm gene mutations
• MRI or CT imaging to identify tumours and their locations
• Regular vision and hearing assessments to monitor symptom progression

Early and accurate diagnosis ensures optimal care and management.

Treatment & Rehabilitation

While no cure currently exists for neurofibromatosis, symptoms and complications can be managed effectively:

• Regular monitoring and imaging for tumour management
• Surgical intervention, if necessary, to remove problematic tumours
• Physiotherapy and occupational therapy to manage mobility and functional difficulties
• Pain management strategies to address chronic discomfort
• Neurological rehabilitation, including cognitive and speech therapy for learning difficulties or neurological deficits
• Psychological support to manage the emotional and social challenges of the condition

Our multidisciplinary team delivers tailored rehabilitation programmes to maximise independence and quality of life.

Why Choose Royal Buckinghamshire Hospital?

• Expert neurological and genetic specialists
• State-of-the-art imaging and diagnostic services
• Individualised treatment and rehabilitation plans
• Comprehensive support from multidisciplinary teams
• Private, compassionate, and patient-focused care

Our Resident Neurologist

Dr Weatherall is very welcoming and highly experienced. He offers his patients sound diagnosis and treatment, along with individual care focused on their future health.

Dr Mark Weatherall

Consultant Neurologist

Field