Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Case report
Table of Contents - Year : 2017 | Month : February | Volume : 11 | Issue : 2 | Page : RD01 - RD03

Familial Schwannomatosis: A Diagnostic Challenge RD01-RD03

Sameer Ajit Mansukhani, Rajendra prasad R. Butala, Sunil H Shetty, Ravindra G Khedekar

Correspondence
Dr. Sameer Ajit Mansukhani,
201 Sunny Hospital, Sunny Estate I, Sion trombay Road, Chembur, Mumbai-400071, India.
E-mail: sameer8482@gmail.com

Schwannomatosis is a disease characterized by the development of multiple benign tumours originating from Schwann cells. Schwannomatosis is a member of the family of diseases known as Neurofibromatosis (NF). Patients with Schwannomatosis develop multiple Schwannomas on cranial, spinal and peripheral nerves. We report a rare case of a 60-year-old female who presented with a painful swelling on the ulnar aspect of her distal forearm. She underwent an excisional biopsy for it; which was suggestive of a Schwannoma. Following ulnar swelling surgery, she developed acute low back pain, which was burning in nature with radiation along both lower limbs without any neurovascular deficit. She was treated conservatively, failing which an MRI was performed which suggested abnormal lesions in the intradural extra medullary compartment of the spinal canal. She had multiple swellings over the entire body with a positive family history of similar swellings in her sister and nephew. The painful lumbar swellings were excised which on histopathological examination revealed to be Schwannomas. No neurological deficit was observed postoperatively. There were no neurocutaneous markers, axillary freckling, visual or auditory disturbances seen in the patient or her relatives. Any patient with multiple painful progressive swellings in the body without the characteristic features of NF-1 and NF-2 should raise the suspicion of Schwannomatosis.