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Neurological Rehabilitation

A True Tug of War: Tethered Cord Syndrome in the setting of Ehlers Danlos Syndrome: A Case Report

A True Tug of War: Tethered Cord Syndrome in the Setting of Ehlers Danlos Syndrome: A Case Report

Thursday, November 16, 2023

    Primary Author(s)

  • Aniroodh T. Reddy, MD

    Resident Physician
    Nassau University Medical Center PM&R Program
    east meadow, New York

    • Co-Author(s)

  • Jack Leal, DO

    Physical Medicine and Rehabilitation Resident
    Nassau University Medical Center PM&R Program
    New Hyde Park, New York

  • KS

    Kanwardeep Singh, MD

    Resident Physician
    Nassau University Medical Center PM&R Program
    East Meadow, New York

    • Primary Author(s)

  • Diane N. Moya, DO

    Resident Physician
    Nassau University Medical Center PM&R Program
    East Meadow, New York

    • Co-Author(s)

  • Matthew A. Cascio, DO

    Resident Physician
    Nassau University Medical Center PM&R Program
    East Meadow, New York

  • WG

    Walter Gaudino, MD, PT

    Attending Physician
    NUMC
    East Meadow, New York

Case Diagnosis: A 19-year-old female with Ehlers-Danlos Syndrome (EDS) and Tethered Cord Syndrome (TCS).

Case Description or Program Description: A 19-year-old female with a medical history of EDS, gastroparesis, nutcracker syndrome, May Thurner syndrome, migraines, and postural tachycardia syndrome presented to the physical medicine & rehabilitation clinic for a wheelchair evaluation. Initially, the patient complained of new-onset bilateral lower extremity weakness associated with abdominal pain. An MRI of the lumbar, thoracic, and cervical spine showed the conus medullaris terminating at T12-L1 with a visibly thickened filum, indicating TCS. Since her diagnosis, the patient developed significant weakness in the bilateral upper extremities. She was initially able to utilize an ultralight wheelchair. However, her upper extremity weakness necessitated the use of a power assist accessory. The patient also developed detrusor hyperactivity, requiring intermittent urinary catheterization.

Setting: Tertiary care center.

Assessment/Results: The patient was referred to a spine rehabilitation facility and neurosurgery and was lost to follow-up.

Discussion (relevance): TCS is a condition that arises from tension in the spinal cord. Radiographic images can demonstrate a conus medullaris below L1, fatty infiltration of the filum terminale (FT), and spinal diaphyrisms. The patient had findings associated with TCS, including weakness, pain, and detrusor hyperactivity. A neurosurgical analysis of EDS patients with TCS indicated that patients had limited elasticity of the FT, causing the excessive stretching of the conus medullaris. In combination with spinal hypermobility, this research implicated EDS as a risk factor for this patient’s TCS. A further literature review also showed that patients with EDS and TCS without a low-lying conus benefited from FT resection. Further, this patient showed progressive weakness that required close monitoring by physiatry to address her declining functional level through a multimodal approach.

Conclusions: This case report was written to make physiatrists aware of TCS as a cause of back pain and lower extremity weakness in patients with EDS. Evaluation by neurosurgery and physiatry is critical for maximizing functional independence in these patients.