Neurofibromatosis type I (extensive)

Case contributed by A.Prof Frank Gaillard

Presentation

Long standing illness. Followup.

Patient Data

Age: 30 years
Gender: Female

Very extensive features consistent with neurofibromatosis are demonstrated, involving all imaged regions.  These are unchanged when compared to previous imaging. 

The largest intraspinal neurofibroma is located in the lumbar spine, posterior to the vertebral body of L2 and L3, where the entire canal is filled, with associated bony remodelling.  The thoracic canal is relatively uninvolved without significant distortion of the thoracic cord.  The cervical canal is most stenosed at the level of C2/3 were bilateral neurofibromas distorting and compressing the cervical cord. 

Bilaterally the brachial plexuses and lumbar plexuses and intercostal nerves are extensively involved with numerous other neurofibromas throughout the soft tissues.  

Very extensive features consistent with neurofibromatosis are demonstrated, involving all imaged regions.  These are unchanged when compared to previous imaging. 

The largest intraspinal neurofibroma is located in the lumbar spine, posterior to the vertebral body of L2 and L3, where the entire canal is filled, with associated bony remodelling.  The thoracic canal is relatively uninvolved without significant distortion of the thoracic cord.  The cervical canal is most stenosed at the level of C2/3 were bilateral neurofibromas distorting and compressing the cervical cord. 

Bilaterally the brachial plexuses and lumbar plexuses and intercostal nerves are extensively involved with numerous other neurofibromas throughout the soft tissues.  

Annotated image

Essentially every exiting spinal nerve is expanded by high T2 enhancing tumours (red arrows) with extensive involvement of subcutaneous tissues (yellow arrows) and deeper soft tissues (blue arrows) which cross multiple spaces. 

Best seen in the axial T2 images of the pelvis are 'target lesions' (blue dashed circles) which are characteristic (although not pathognomonic) of neurofibromas. 

Case Discussion

Extensive and typical features of neurofibromatosis type I (NF1) dominated by presence of numerous neurofibromas. 

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Case information

rID: 19320
Case created: 27th Aug 2012
Last edited: 31st Jan 2017
Tags: nf1, spine
Inclusion in quiz mode: Included

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