Giant sacral schwannoma in a neurofibromatosis type 2 patient

Abstract

Abstract Background Neurofibromatosis type 2 is an autosomal dominant disorder, mainly characterized by multiple neurological lesions, such as schwannomas, meningiomas, neurofibromas and intramedullary ependymomas. Schwannomas are usually small circumscribed lesion. Sacral location of a schwannoma with cystic change is a very rare finding. We are presenting one such case with giant cystic schwannoma with fluid–fluid levels in sacral region. Case presentation We present a case of 13-year-old female patient, presenting with pelvic pain and gradually progressive bilateral lower limb weakness. On MRI, giant cystic schwannoma with internal fluid–fluid levels was noted in sacral region, extending anteriorly into the presacral region, causing mass effects on pelvic organs, which explained the cause of her symptoms. She also showed the presence of bilateral vestibular schwannoma and multiple small cerebral lesions, leading to the diagnosis of neurofibromatosis type 2. Conclusions Our current case of neurofibromatosis type 2, diagnosed by presence of bilateral vestibular schwannoma, shows atypically large sacral cystic schwannomas and cerebral subcortical lesions, probably representing glial microhamartomas. Sacral schwannomas can be of giant size with cystic changes and fluid–fluid levels, mimicking aneurismal bone cyst, as in current case.

Keywords

• Neurofibromatosis
• Cystic schwannoma
• Glial microhamartomas
• Meningioangiomatosis