(1)
Department of Neurosurgery, University of Wisconsin, Madison, WI, USA
12.1 Case Presentation
A 32-year-old male complains of a painful mass in the right anterior chest wall. He has noticed the mass for years, but it has become more painful. He has a history of multiple neurofibromas resected in the past. His father also had multiple tumors resected, but the pathology is unknown. He has smoked half a pack of cigarettes a day for the past 10 years. The mass is shown in Fig. 12.1 and is tender to the touch. He has a left Horner’s syndrome from previous resection of a neck mass. Neurological examination is otherwise normal. MRI of the neck is shown in Fig. 12.2.
Fig. 12.1
Fig. 12.2
12.2 Questions
- 1.
What is the diagnosis? What is the cause?
- 2.
What are other signs to look for?
- 3.
What tests are needed?
- 4.
What is the plan for treatment?
Answers
- 1.
This is likely a plexiform neurofibroma in the setting of NF1 .
- 2.
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Other signs of NF1 . Diagnostic criteria for NF1 [1], two or more of the following:
- (a)
Six or more café-au-lait patches
- (b)
Two or more neurofibromas
- (c)
One plexiform neurofibroma
- (d)
Axillary or groin freckling
- (e)
Two or more iris Lisch nodules
- (f)
- (a)