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)
Suspected Homocystinuria-MRI
Reviewed by Sumer Sethi
on
Monday, March 16, 2009
Rating:
Reviewed by Sumer Sethi
on
Monday, March 16, 2009
Rating:
Sumer Sethi
Unique blend of academic excellence and entrepreneurship, heading leading firms in India- Teleradiology Providers, pioneering company providing teleradiology services and DAMS (Delhi Academy of Medical Sciences) Premier test preparation institute in India for MD/MS/MCI preparation. He has also been an invited faculty member at various conferences, including Teleradiology in IRIA 2008 and 2011, Hospital Build Middle East, Congress of the Brain Tumor Radiology in Neuro-oncology Society. Dr. Sethi is Editor-in-Chief of Internet Journal of Radiology. He has a keen interest in Web 2.0 technologies and in maintaining his famous radiology blog, which has been featured in multiple international journals.
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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
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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