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Chapter: Medicine and surgery: Nervous system

Neurofibromatosis type 1 - Hereditary and congenital disorders

An inherited disorder characterised by multiple skin neurofibromas, also called Von Recklinghausen’s disease. - Definition, Incidence, Aetiology, Pathophysiology, Clinical features, Complications, Investigations, Management, Prognosis.

Neurofibromatosis type 1

 

Definition

 

An inherited disorder characterised by multiple skin neurofibromas, also called Von Recklinghausen’s disease.

 

Incidence

 

1 in 3500 making it the most common autosomal dominant condition.

 

Aetiology/pathophysiology

 

Autosomal dominant condition caused by a group of mutations in the NF1 gene on the long arm of chromosome 17 (product neurofibromin). It has complete penetrance, but variable expression. It is thought that NF1 is a tumour supressor gene.

 

Clinical features

 

Diagnosis when two or more of

 

·        six or more cafe´-au-lait spots.

 

·        two or more neurofibromas of any type or 1 plexiform (nerve root) neurofibroma.

 

·        freckling of axillary or inguinal regions. optic glioma.

 

·        two or more Lisch nodules (iris hamartomas).

 

·        distinctive osseous lesions (focal kyphoscoliosis, pseu-doarthrosis and dysplasia or thinning of the long bone cortex).

 

·        a first degree relative with NF1 diagnosed as above.

 

Complications

 

There is an increased rate of benign and malignant tumours, particularly CNS tumours. Plexiform neurofibromas may undergo malignant change (called schwannomas or neurofibrosarcomas). Note that cutaneous neurofibromas do not undergo malignant change.

Epilepsy or mental retardation occur in up to 5% of patients; 30–40% of patients develop a scoliosis which may require surgical intervention

 

Investigations

 

It is a clinical diagnosis. MRI scanning is used if root pain or focal neurology develops, to look for malignant change in a neurofibroma or to assess if a neurofibroma is amenable to superficial resection.

 

Management

 

Surgery for cosmetic reasons and to correct bone deformity.

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