Tethered Spinal Cord in Patients with Vascular Ehlers-Danlos Syndrome. S. Bangura1, B. F. Griswold2, L. Sloper2, R. Raza2, N. B. McDonnell3 1) Laboratory of Clinical Investigation, National Institute on Aging, NIH, Baltimore, MD; 2) Clinical Research Branch, National Institute on Aging, NIH, Baltimore, MD; 3) Harbor Hospital, National Institute on Aging, Intramural Research Program, NIH, Baltimore, MD.
Tethered Spinal Cord Syndrome (TSC) is a progressive neurological disorder caused by fatty tissue attachment that limits the movement of the spinal cord within the spinal column, causing an abnormal stretching of the spinal cord. Symptomatology includes urinary and bowel dysfunction, lower extremity pain, numbness or weakness, scoliosis, foot deformities and abnormal reflexes. Here we report two female patients (age 14 and 43) out of 16 consecutive probands with the vascular form of Ehlers Danlos Syndrome (VEDS)who were discovered to have TSC by Magnetic Resonance Imaging (MRI) of the lumbar spine. Patient #1 (Age 14) had a glycine substitution mutation, c.3563 G>A (G1021E) and had excessive bruising, abnormal scarring and wound healing problems, but no vascular events to date. Patient #2 had a 108 bp deletion in COL3A1 (exons 26 and 27) and had vascular complications including rupture of the abdominal aorta and multiple aneurysms in the splenic artery. Patient #2's MRI revealed open spina bifida and tethered cord at the level of L5. She had previous surgery for bladder incontinence, and currently suffers from urinary retention, which are not known complications of VEDS and likely related to TSC. Patient #1 had spinal cord tethered at the level of L3. She has chronic constipation, which is often seen in VEDS patients, but can also be a manifestation of TSC. Both patients had lower extremity weakness and pain. Physical findings included scoliosis, genu vera and pes planus, which can be seen in both TSC and VEDS. Patient #1 had abnormal lower extremity reflexes. This study describes the first reported case series of TCS in the setting of VEDS. Some findings, such as the lower extremity and spine deformities can be caused by both TSC and VEDS. A lumber spine MRI is indicated in the setting of VEDS if suspicious signs and symptoms of TSC are present.