Keywords: Clinical Genetics, Malformations and Dysmorphology, KW008 - BONE/JOINT ABNORMALITIES, KW016 - CHARACTERIZATION OF SYNDROMES, KW022 - CLINICAL HISTORY, KW099 - NATURAL HISTORY, KW110 - PHENOTYPE

Spine abnormalities are correlated with back pain in young persons with Ehlers-Danlos Syndromes. S. Bangura¹, B.F. Griswold¹, L. Sloper¹, R. Raza³, C.A. Francomano², N.B. McDonnell¹ 1) LCI, NIA/NIH, Baltimore, MD; 2) GBMC, Baltimore, MD; 3) Harbor Hospital, Baltimore, MD.

   The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue characterized by joint, skin and vascular abnormalities. Joint laxity, dislocations and chronic pain are commonly recognized features of EDS in young persons, however, the correlation of pain with spinal pathology has not been studied systematically. We investigated abnormalities of the spine in 26 consecutive subjects younger than 25 with a diagnosis of hypermobile or classical EDS enrolled in a natural history study of hereditary disorders of connective tissue at the National Institutes of Health. The age range was 12-25, and there were 14 females and 12 males. Magnetic Resonance Imaging (MRI) of the lumbar spine was obtained in all subjects, and additional limited thoracic and cervical studies were obtained on some of the subjects. In 15 of these young patients, abnormal signal was detected in lumbar discs, with eccentric placement or diminished size of nucleus pulposus. Degenerative disc disease, bulging or herniated discs, and facet joint athrosis was present in at least one level in 20/25 patients. Two patients have severe lumbar spinal stenosis. Dural ectasia was associated with the presence of Marfanoid body habitus and scoliosis, however none of the patients have cardiac or ocular findings that suggested the diagnosis of Marfan syndrome. Schmorl’s nodes were seen in all male subjects. All subjects with spinal pathology had complaints of back/neck pain. The results suggest that MRI investigations are likely to identify spinal pathology in young EDS patients who have significant back or neck pain.