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Radiologic Phenotypes in Lumbar MR Imaging for a Gene Defect in the COL9A3 Gene of Type IX Collagen¹

¹ From the Depts of Physical Medicine and Rehabilitation (J.K., H.V.) and Radiology (E.P., M.K., O.T.), Univ Hosp of Oulu, PL 25, FIN-90029 Oulu, Finland; Collagen Research Unit, Biocenter and Medical Biochemistry (P.P., J.L., L.A.K.) and Medical Informatics Group (P.N.), Univ of Oulu, Finland; Dept of Genetics, Southwest Foundation of Biomedical Research, San Antonio, Tex (H.H.H.G.); Dept of Occupational Medicine, Finnish Inst of Occupational Health, Helsinki (J.K., A.M.); Orton Hosp, Helsinki, Finland (J.K., A.M.); and Ctr for Gene Therapy and Dept of Medicine, Tulane Univ Health Sci Ctr, New Orleans, La (L.A.K.). Received Nov 13, 2001; revision requested Jan 23, 2002; final revision received Jul 15; accepted Aug 1. J.K. supported by Finnish Office for Health Technology Assessment and Finnish Work Environment Fund and by grants from the Yrjö Jahnsson Foundaton and the Finnish National Research and Development Ctr for Welfare and Health. L.A.K. supported by Acad of Finland, NIH (AR45982), Louisiana Gene Therapy Research Consortium (New Orleans), and HCA-The Health Care Company (Nashville, Tenn). Address correspondence to J.K. (e-mail: jaro.karppinen@ttl.fi).

View larger version (99K): [in a new window]   Figure a. Sagittal T2-weighted MR images (4,000/95) in two patients who received a diagnosis of Scheuermann disease. (a) Image in a 50-year-old man (case 9 in Table 1) who experienced right-sided sciatica for 1 months. He had two Trp3 alleles. Note Schmorl nodules at L2-3, L3-4, and L4-5 (open arrowheads); endplate irregularities in the thoracolumbar region (solid arrowheads); and a contained herniation at L4-5 (arrow). (b) Image in a 47-year-old woman (case 33 in Table 1) who had left-sided sciatica for 6 months. Note Schmorl nodule at T11-12 (open arrowhead), endplate irregularities from T12-L1 to L2-3 (solid arrowheads), and a noncontained herniation at L5-S1 (arrow).

View larger version (96K): [in a new window]   Figure b. Sagittal T2-weighted MR images (4,000/95) in two patients who received a diagnosis of Scheuermann disease. (a) Image in a 50-year-old man (case 9 in Table 1) who experienced right-sided sciatica for 1 months. He had two Trp3 alleles. Note Schmorl nodules at L2-3, L3-4, and L4-5 (open arrowheads); endplate irregularities in the thoracolumbar region (solid arrowheads); and a contained herniation at L4-5 (arrow). (b) Image in a 47-year-old woman (case 33 in Table 1) who had left-sided sciatica for 6 months. Note Schmorl nodule at T11-12 (open arrowhead), endplate irregularities from T12-L1 to L2-3 (solid arrowheads), and a noncontained herniation at L5-S1 (arrow).