Answer for CoW 30 April 2017
Findings
Bilateral acoustic neuroma. Dural based extraaxial lesion with seedlings in the lower lumbar region– meningioma Lower cervical intramedullary lesion – ependymoma . Left sacral foraminal lesion - neurofibroma.
Discussion
Formerly called central neurofibromatosis or Schwannomatosis, presents with Multiple inherited Schwannomas, Meningiomas, Ependymomas (MISME syndrome). Definite diagnostic criteria are: Bilateral CN VIII schwannomas on MRI or CT scan (no biopsy necessary). First degree relative with NF-2 & either unilateral early onset CN VIII schwannomas (age<30yrs) or any 2 of the following: Meningiomas, Gliomas, Schwannomas, Neurofibromas, Juvenile posterior subcapsular lenticular opacity. NF 2 in an autosomal dominant disorder. Male & female patients are approximately equally affected. Cutaneous markers are rarer in NF2 as compared to NF-1. CNS lesions are seen in virtually all cases and include neoplasms, non neoplastic intra-cranial calcifications and spinal cord nerve root tumors. CN VIII schwannomas are hallmark of diseases most frequently affecting 8 th nerve complex. Unilateral tumors arise from vestibular nerve but schwannomas can be found involving any cranial nerve from CN III to CN XIII, with CN V as the next most frequently involved Intracranial Meningiomas found in NF2 are usually multiple . Ependymomas are most common intraparenchymal tumor in NF2. Spinal tumors seen in NF2 include schwannomas, meningiomas & ependymomas. Benign intracranial calcifications, particularly of choroids plexus, cerebellar hemispheres & cerebral cortex in association with NF2 are seen. Ocular abnormalities including juvenile posterior subcapsular lenticular opacity, hamartomas of retina and choroids are common . Osseus abnormalities in NF2 are secondary to spinal tumors and unlike NF1 dural dysplasia is not a feature.
Bilateral acoustic neuroma. Dural based extraaxial lesion with seedlings in the lower lumbar region– meningioma Lower cervical intramedullary lesion – ependymoma . Left sacral foraminal lesion - neurofibroma.
Discussion
Formerly called central neurofibromatosis or Schwannomatosis, presents with Multiple inherited Schwannomas, Meningiomas, Ependymomas (MISME syndrome). Definite diagnostic criteria are: Bilateral CN VIII schwannomas on MRI or CT scan (no biopsy necessary). First degree relative with NF-2 & either unilateral early onset CN VIII schwannomas (age<30yrs) or any 2 of the following: Meningiomas, Gliomas, Schwannomas, Neurofibromas, Juvenile posterior subcapsular lenticular opacity. NF 2 in an autosomal dominant disorder. Male & female patients are approximately equally affected. Cutaneous markers are rarer in NF2 as compared to NF-1. CNS lesions are seen in virtually all cases and include neoplasms, non neoplastic intra-cranial calcifications and spinal cord nerve root tumors. CN VIII schwannomas are hallmark of diseases most frequently affecting 8 th nerve complex. Unilateral tumors arise from vestibular nerve but schwannomas can be found involving any cranial nerve from CN III to CN XIII, with CN V as the next most frequently involved Intracranial Meningiomas found in NF2 are usually multiple . Ependymomas are most common intraparenchymal tumor in NF2. Spinal tumors seen in NF2 include schwannomas, meningiomas & ependymomas. Benign intracranial calcifications, particularly of choroids plexus, cerebellar hemispheres & cerebral cortex in association with NF2 are seen. Ocular abnormalities including juvenile posterior subcapsular lenticular opacity, hamartomas of retina and choroids are common . Osseus abnormalities in NF2 are secondary to spinal tumors and unlike NF1 dural dysplasia is not a feature.
Note:
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!