Monday, March 16, 2009

Suspected Homocystinuria-MRI












Dorso lumbar curvature is altered with kyphotic-deformity in the lower dorsal spine. There is mild scoliosis with concavity to right. There is mild anterior wedging of D12 & L1 vertebral body with degenerative changes in form of marginated osteophytes, endplates irregularity, multi-level schmorl’s nodes & disc space narrowing. Disc dessication is seen as loss of T2 bright signal of nucleus pulposus. Also noted is dural ectasia involving the sacral canal along with bilateral lateral meningocele in the sacral region.
Opinion- 24 yrs old male with kypho-scoliotic deformity with disco-vertebral degenerative changes, mild D12/L1 anterior wedging, multi-level Schmorl’s nodes & sacral dural ectasia & lateral meningoceles. D/ D includes homocystinuria, scheurmann’s disease (may be associated NF-1)

3 comments:

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Surendra said...

Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Homocystinuria/188. I hope it helps. Thanks, AccessDNA

Anonymous said...

Homocysturia is not associated with dural ectasia,but rather marfan and loeys dietz syndrome. Fish shaped vertebrae (osteopenia/osis) and scoliosis is what is characteristic of homocysturia

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