Pediatric Neurofibromatosis Type 2

  • Etiology:
    — Genetic defect localized to chromosome 22q12 of abnormal tumor suppressor gene which codes for Merlin protein and results in predisposition to tumor formation throughout nervous system
  • Imaging Neurofibromatosis Type 2 Associated Tumors:
    — Brain: Multiple schwannomas, meningiomas, ependymomas
    — Spine: Extramedullary tumors (schwannomas and meningiomas and ependymomas) and intramedullary tumors (ependymomas and astrocytomas (rare))
  • DDX: Neurofibromatosis Type 1, neurofibromatosis Type 2 lacks skin stigmata of neurofibromatosis Type 1
  • Complications:
  • Treatment:
  • Clinical:
    — 1/10 as common as neurofibromatosis Type 1
    — MISME syndrome – multiple inherited schwannomas, meningiomas and ependymomas
  • Neurofibromatosis Type 2 diagnostic criteria:
    — Pathognomonic if bilateral vestibular schwannomas
    — Diagnosis also if one of the following features: bilateral vestibular schwannomas, first degree relative with neurofibromatosis Type 2 and either single vestibular schwannoma or any two of following: schwannomas or neurofibromas or meningiomas or gliomas

Radiology Cases of Neurofibromatosis Type 2

Radiology Cases of Meningioma in Neurofibromatosis Type 2

MRI of a meningioma in a patient with neurofibromatosis Type 2
Coronal T1 MRI with contrast of the brain shows a round, solid, homogeneously enhancing intracranial lesion above the left orbit that is in continuity with the meninges and which appears to have a dural tail. The patient also had multiple schwannomas.
MRI of a meningioma in a patient with neurofibromatosis Type 2
Coronal (above) and axial (below) T1 MRI with contrast of the brain show an oval, solid, homogeneously enhancing parafalcine lesion that is in continuity with the meninges and which appears to have a dural tail.

Radiology Cases of Acoustic Neuromas in Neurofibromatosis Type 2

MRI of acoustic schwannomas in a patient with neurofibromatosis Type 2
Axial T1 MRI with contrast of the brain shows bilateral homogeneously enhancing masses in the cebrebellopontine angles. The patient also had an intracranial meningioma.