Neurofibromatosis type 1

Case contributed by Utkarsh Kabra
Diagnosis probable

Presentation

Pain in neck

Patient Data

Age: 45 years
Gender: Male
mri

Extramedullary ovoid lesion, measuring approx. 13 x 25 x 20 mm (AP X TD X CC) involving the spinal canal and extending through right C1-2 neural foramina, causing its expansion and adjacent bony scalloping.

Similar lesion, measuring approx. 9 x 14 x 15 mm is seen on the left side, extending through left C1-2 neural foramina, causing mild expansion.

These lesions are causing gross compression of the cervical cord at C1-2 level with mild deviation towards the left side. Intramedullary hyperintensity is also seen within cord at this level.

Multiple smaller lesions are seen along nearly all nerve roots up to C7-D1 level. Post-contrast study shows predominantly peripheral, heterogeneous enhancement of this lesion.

Multiple enhancing nodular lesions are seen in visualized subcutaneous tissues.

Case Discussion

Overall above findings are suggestive of neurofibromatosis type I with multiple spinal and cutaneous neurofibromas as described.

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