Solitary Plasmacytoma of the Spine in a Young Male and the Outcome of Inpatient Rehabilitation Stay.

Solitary plasmacytoma (SP) can be classified into two groups: a solid mass of neoplastic monoclonal plasma cells in bone, also called a solitary bone plasmacytoma (SBP), or less likely solitary extramedullary plasmacytoma (SEP) without any evidence of systemic disease of multiple myeloma. The diagnosis should be made by biopsy confirmation, revealing monoclonal plasma cell infiltration from the mass. The SBP usually affects the axial skeleton. Males have a higher incidence than females, as the ratio is 2/1, and the average age is 55. SP incidence usually increases with age. SBP has a significantly higher risk for progression to myeloma, usually within two years, and radiotherapy (RT) is the treatment of choice. Patients with acute declining neurologic dysfunction require urgent surgery before radiation therapy. We report a middle-aged man who presented with bilateral lower extremity weakness. Thoracic MRI with and without contrast revealed a large soft tissue and osseous mass centered at the T8 vertebral body with a large paravertebral extension, causing spinal cord compression at the T8-T9 level. The patient's clinical presentation, assessment, and rehabilitation management are discussed. Patients with this diagnosis are not properly diagnosed for approximately six months.

Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype.

OBJECTIVE: To report a new SYT2 missense mutation causing distal hereditary motor neuropathy and presynaptic neuromuscular junction (NMJ) transmission dysfunction. METHODS: We report a multigenerational family with a new missense mutation, c. 1112T>A (p. Ile371Lys), in the C2B domain of SYT2, describe the clinical and electrophysiologic phenotype associated with this variant, and validate its pathogenicity in a Drosophila model. RESULTS: Both proband and her mother present a similar clinical phenotype characterized by a slowly progressive, predominantly motor neuropathy and clear evidence of presynaptic NMJ dysfunction on nerve conduction studies. Validation of this new variant was accomplished by characterization of the mutation homologous to the human c. 1112T>A variant in Drosophila, confirming its dominant-negative effect on neurotransmitter release. CONCLUSIONS: This report provides further confirmation of the role of SYT2 in human disease and corroborates the resultant unique clinical phenotype consistent with heriditary distal motor neuropathy. SYT2-related motor neuropathy is a rare disease but should be suspected in patients presenting with a combination of presynaptic NMJ dysfunction (resembling Lambert-Eaton myasthenic syndrome) and a predominantly motor neuropathy, especially in the context of a positive family history.