Neurofibromatosis type 2 (spinal manifestations)

Case contributed by Dr Bruno Di Muzio

Presentation

Known from clinics due to previous spinal lesion resection.

Patient Data

Age: 19 years
MRI

Whole Spine MRI - Tumour protocol

There are multiple enhancing intracanal and neural foraminal lesions, the largest involves the right T4 nerve root, measuring 3.4 cm in A-P diameter, demonstrating heterogeneous enhancement with central low signal suggesting necrosis. There is also a large paraspinal lesion at T8-T10, extending along the anterior surface of the vertebral bodies over a vertical length of approximately 5 cm. 

Several lesions related to both posterior ribs, subcutaneous lesions, and also a large one at the base of the tongue.

Case Discussion

The imaging features are those of multiple well-defined enhancing masses throughout the spinal canal, intervertebral foramina, and a few along the imaged soft tissues. Appearances overall favour multiple nerve sheath tumours. The spinal lesions are intradural-extramedullary. Small spinal meningiomas can not be ruled out.  

This patient is known from clinics given its neurofibromatosis type II (NF2) diagnosis, which a prominent spinal involvement. He also has a tentorial likely meningioma and bilateral acoustic schwannomas (not shown). The appearances of the spine alone cannot distinguish between NF 1 and NF 2.

NF2 is one of the phakomatosis syndromes and is characterised by mutations in the chromosome 22q12, affecting the gene responsible for the production of protein merlin, a tumour suppressor protein. 

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Case information

rID: 53943
Case created: 15th Jun 2017
Last edited: 9th Jul 2017
System: Spine
Tag: rmh
Inclusion in quiz mode: Included

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