Neurofibromatosis type II
22 years old female patient presented with seizures and left upper limb weakness since 5 hours with loss of consciousness. Past history of brain tumour, operated 8 years back.
Neurofibromatosis Type II with multiple CNS neoplasms.
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Heterogeneous moderately enhancing masses are seen in bilateral CPA angle cisterns extending into the internal acoustic meatuses, consistent with bilateral acoustic schwannomas.
Moderately enhancing dural based extra-axial masses are seen in interhemispheric fissure in frontal and high parietal regions attached to the falx cerebri, indicative of multiple meningiomas.
An irrregular moderately enhancing intramedullary mass is seen in cervical spinal cord at C4 level. There is associated focal enlargement of the cord. Features are indicative of intramedullary ependymoma.
A large irregular lobulated mass is seen in right parietal region with marked perilesional edema. The mass is of intermediate signal intensity on T1,T2 and FLAIR and shows restricted diffusion on DWI. It shows moderate to intense post contrast enhancement. Foci of low signal instensity on all sequences are seen in the mass indicative of calcifications or hemosiderin deposition (old hemorrhage).Differentials include supratentorial ependymoma, primitive neuroectodermal tumor (PNET) and lymphoma.
The study reveals bilateral acosutic schwannomas which are highly suggestive of Neufibromatosis type II. Neurofibromatosis type II is also known as MISME syndrome for its association with multiple inherited Schwannoms, Meningiomas and Ependymomas, all of which are clearly delineated in this case. This patient has concurrent bilateral acoustic schwannomas, a cervical intramedullary ependymoma and falcine meningiomas. The large mass in right parietal lobe can be supratentorial ependymoma, priminitive neuro-ectodermal tumor or lymphoma. However, association with neurofibromatosis II and restricted diffusion on DWI strongly favors the diagnosis of supratentorial ependymoma.
- Yuh EL, Barkovich AJ, Gupta N. Imaging of ependymomas: MRI and CT. Child’s Nervous System. 2009;25(10):1203-1213. doi:10.1007/s00381-009-0878-7.
- Ashok R Asthagiri, Dilys M Parry, John A Butman, H Jeffrey Kim, Ekaterini T Tsilou, Zhengping Zhuang, Russell R Lonser, Neurofibromatosis type 2, The Lancet, Volume 373, Issue 9679, 6–12 June 2009, Pages 1974-1986, ISSN 0140-6736, http://dx.doi.org/10.1016/S0140-6736(09)60259-2. (http://www.sciencedirect.com/science/article/pii/S0140673609602592)