Neurofibromatosis type I

Case contributed by Dr Jeremy Jones

Presentation

Left sided parotid swelling and

Patient Data

Age: 14 years
Gender: Male

Initial MRI

Modality: MRI

Left sided facial lesion

There is a large lobulated mass lesion extending from the base of skull in the peri-parotid region.  It is high-T2, low-T1 and enhances. In addition, there is bilateral T2-bright white-matter abnormality. 

In addition to the facial lesion, the patient has skin lesions on his back and a swollen knee.  He went on to have chest imaging.

Imaging of the chest

Modality: MRI

There are multiple T2-bright lesions along most of the costal nerves.  Features are consistent with multiple neurofibromas.

Modality: MRI

From the localisers, there is a clear size discrepancy between the two legs. On the T2 weighted imaging, the extent of the disease process is obvious. There are hugh plexiform neurofibromas extending along the femoral nerve and its branches.

Case Discussion

A case of neurofibromatosis type I with plexiform neurofibromas of the face and leg and multiple neurofibromas along the costal nerves.

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Case Information

rID: 22541
Case created: 6th Apr 2013
Last edited: 16th Oct 2015
Inclusion in quiz mode: Included

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