1231 - An unusual case of non-traumatic thoracic disk herniation leading to paraplegia in a patient with Stickler syndrome

Case Diagnosis: Non-traumatic T10-T11 disk herniation leading to AIS A spinal cord injury in a woman with Stickler syndrome.

Case Description: A 33-year-old female with recently diagnosed Sticker syndrome had sudden onset abdominal and back pain while standing to fold laundry at home, rapidly followed by paraplegia. MRI of the spine showed a large disk extrusion at T10/T11 causing severe cord compression. She underwent emergent laminectomy of T10 and diskectomy. The post-operative course was complicated by neurogenic shock requiring pressors. On examination, she had 0/5 strength in her legs with neurogenic bowel and bladder. She started having spasticity modified Ashworth 1 in her knee flexor muscles at 2 weeks. Repeat MRI spine showed persistence of T2 signal abnormality within the thoracic spinal cord T10-T11. At her 1 month follow-up she continues to be T10 AIS A.

Discussions: Stickler syndrome (SS) is a multisystem connective tissue disorder with variable inheritance from autosomal dominant to recessive. SS is caused by mutations in 6 genes associated with the formation of collagens type II, IX, and XI, causing significant ocular complications, but skeletal/joint, inner ear, and craniofacial structures are often involved. SS exhibits significant inter- and intrafamilial phenotypic variability (individuals may exhibit different clinical manifestations), however penetrance is complete. This patient had a pathogenic variant (c.1630-2del) in the COL11A1 gene characteristic for SS. Non-traumatic acute paraplegia caused by acute disk herniation with early onset spasticity is infrequent in the literature. Of the 2 available reports of spinal cord injury in patients with SS, none details the onset of spasticity and have available follow-up.

Conclusions: Stickler syndrome is best known for its ocular complications and craniofacial abnormalities, but other neurological and spinal manifestations can also account for significant disability and need to be accounted for when caring for these patients.