Neurofibromatosis type 1

Case contributed by Dr Ahmed Abdrabou


Known patient with cutaneous cafe au lait patches underwent cervical spine surgery for removal of benign tumor

Patient Data

Age: 20 years old
Gender: Male

MRI cervical and dorsal spines with pre and post contrast studies reveals multiple neurofibromas arising from almost all cervical and dorsal nerve roots causing widening of the spinal canal and neural foramina, as well as multiple subcutaneous neurofibromas. The largest neurofibroma arises from the lower cervical spine and extends downward to the lung apex. Some of the neurofibromas show mild enhancement after contrast administration.

Annotated image

Large neurofibroma is seen reaching down to the lung apex

Case Discussion

NF type 1 is one of the phakomatoses (neurocutaneous syndromes) with cutaneous and neural lesions. Cutaneous lesions include cafe au lait spots and axillary/inguinal freckling. Neurological lesions include optic nerve gliomas, cerebral and spinal astrocytomas and neurofibromas and malignant peripheral nerve sheath tumors (MPNST).  There is also association with skeletal dysplasias e.g. kyphoscoliosis, sphenoid wing dysplasia and dural ectasia.

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Case information

rID: 24729
Published: 7th Sep 2013
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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