Disclosures: Tanner C. Korponay: No financial relationships or conflicts of interest

Case Diagnosis: Spinal Cord Compression Secondary to Metastatic Pelvic Alveolar Rhabdomyosarcoma

Case Description: A 17-year-old male with DiGeorge Syndrome and Pelvic Alveolar Rhabdomyosarcoma status post chemotherapy presented to acute care with acute on chronic worsening lower extremity weakness and bladder dysfunction for 48 hours.

Setting: Acute Inpatient Rehab Hospital

Assessment/Results: On presentation to acute care, MRI showed osseous metastasis to T8 and L1 vertebral bodies with an extraosseous and epidural component causing severe spinal cord compression at T7-T9. The patient underwent tumor debulking and decompression with T7-T9 laminectomy and tentative plan for radiation therapy. Tissue biopsy confirmed metastatic rhabdomyosarcoma. Post-operatively, he was transitioned to acute rehab for remediation of deficits including bilateral lower extremity weakness and bladder dysfunction consisting of intermittent urinary retention and overflow incontinence. Unfortunately, his course was complicated by development of pneumonia requiring transfer to acute care. Family pursued palliative care following continued decline in his quality of life.

Discussion: Various malignancies have been previously reported in the context of DiGeorge syndrome, however, there is no report of rhabdomyosarcoma in the context of DiGeorge syndrome. It has been reported that a partial deletion of chromosome 22 can include the gene locus for CrK-like (CRKL) protein in many DiGeorge patients.2 In vitro and in vivo loss of function studies have demonstrated that CRKL expression is essential for rhabdomyosarcoma growth and survival. Given this patient’s gradual functional decline with requirement for assistive devices such as ankle-foot orthoses, rolling walker, and eventually a wheelchair for community and home mobility, perhaps reduced rather than absent protein expression may explain this rare occurrence.

Conclusion: A multidisciplinary rehabilitation approach is important to promote function and improve quality of life. Further research inquiring about genetic testing may inform future diagnosis and treatment. A proactive rather than a reactive approach to rehabilitation should be taken in order to preserve quality of life and function.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/spinal-cord-compression-secondary-to-metastatic-pelvic-alveolar-rhabdomyosarcoma-in-the-setting-of-digeorge-syndrome-a-case-report/