1 of 9

NEUROFIBROMATOSIS

DR KGAKA

2 of 9

Type 1 Neurofibromatosis

  • Also known as Von Recklinghausen disease
  • Most common of the neurocutaneous syndromes, representing >90% of neurofibromatosis
  • Neurogenetic disorder with a predisposition to developing multiple nerve sheath tumors
  • Neurofibromas are characteristic lesions of NF1
  • These patients have a risk of developing breast ca before the age of 50 years
  • Pheochromocytomas are occasionally present
  • Visceral manifestations: Involvement of autonomic nerves or ganglia within the organ in 10% of patients

​

3 of 9

4 of 9

Malignant Peripheral Nerve Sheath Tumors

  • Neurofibromas have a potential for degeneration into malignancy
  • The lifetime risk of malignant degeneration ranges from 6-13%
  • Arises primarily from nodular or plexiform neurofibromas
  • Mixture of Schwann cells, fibroblasts, perinural cells, endothelial cells, mast cells and pericytes

5 of 9

ASSOCIATED TUMOURS

1. CNS

-Optic nerve gliomas

-Brain stem gliomas

-Cerebellar gliomas

​

2. Nerve sheath/Neural

-Neurofibromas

-Malignant peripheral nerve sheath tumours

​

3. Endocrine

-Pheochromocytomas

-Breast cancer

​

4. GIT

-Gastro-intestinal stromal tumours

​

5. MSK

-Rhabdomyosarcoma

6. Hematological

-Juvenile myelomonocytic leukemia

​

​

6 of 9

Schwanomatosis

  • NF2-related schwanomatosis (formerly known as NF2)
  • Rare condition which is characterized by the development of multiple benign nerve sheath tumors (Dumbell tumours)
  • Patients typically present in late adolescence or early adulthood
  • Average age of onset is 18-24 years
  • Also known as the MISME syndrome(Multiple Inherited Schwannomas, Meningiomas and Ependymomas)

​

7 of 9

DUMBELL Tumours

  • Benign nerve sheath tumours that grow in an hourglass

shape with components inside and outside the spinal

canal connected through the intervertebral foramen.

  • They frequently cause pain, numbness and

neurological deficits due to spinal cord compression,

often requiring surgical removal to prevent permanent

nerve damage

  • Eden’s classification

8 of 9

INDICATIONS FOR CROSS SECTIONAL IMAGING

Neurofibromatosis

Imaging is primarily used to monitor for complications such as optic pathway gliomas, plexiform neurofibromas and malignant peripheral nerve sheath tumours

1. MRI: Sudden increase in size of a plexiform neurofibroma, new pain or new neurological deficit in an adult with NF1. Symptoms of vascular disease (Moyamoya syndrome)

MRI of the brain and orbits: Visual changes, proptosis, precocious puberty.

2. CT scan: Orthopaedic complications such as scoliosis, tibial bowing and to assess for skeletal dysplasia.

Abdominal CT scan: To investigate potential GISTs and adrenal tumours

3. PET CT can: Used to differentiate malignant from benign neurofibromas

9 of 9

REFERRENCES

  1. S Ashok. Dumbell-shapednneurofibroma of the upper thoracic spine. 2013. South Asian J Cancer
  2. G Ercal. Genetic evaluation of common neurocutaneous syndromes. 2018. Paediatric neurology
  3. RE Ferner. From process to progress 2017 International conference on neurofibromatosis 1. 2019. PUBMED