Neurofibromatosis type 1 - head and neck / CNS manifestations

Case contributed by Henry Knipe
Diagnosis almost certain


Follow-up from clinic

Patient Data

Age: 20 years
Gender: Male

Mild right sphenoid wing dysplasia. 

There are expansive soft tissue density lesions involving the anterior walls of both maxillary sinuses. Similar further lesions involving the mandible. 

Paranasal sinuses and mastoid air cells are clear. 

There is posterior fusion defect in C1 and postsurgical changes to the occipital and foramen magnum region. 

Multiple features consistent with known neurofibromatosis type 1 are again noted, particularly right sphenoid wing dysplasia associated with a meningocele and presumably a small orbital plexiform neurofibroma (seen as enhancement posterolaterally), bilateral Moya-Moya phenomenon, ventriculomegaly and colpocephaly, enhancement of the optic tracts and hypothalamus, and T2 signal lesion in the left cerebral peduncle (FASI). Postoperative changes in the posterior fossa are unaltered. Evidence of a prior border zone infarction on the left. Frontal nasal and bi-maxillary lesions are partially imaged.

Case Discussion

This patient had a known history of neurofibromatosis type 1 with typical manifestations involving the brain and orbits. 

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