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Genomic Spine Disorders:
Juvenile Discogenic Disease



 

This study published was published in the peer-reviewed journal "Spine" by Kenneth Heithoff and associates in 1994.  These physicians  were the pioneers who first brought disease entities such as Juvenile Discogenic Disease (JDD) to the attention of the medical establishment through spine imaging. Heithoff, who founded the Center for Diagnostic Imaging in Minneapolis, was also one of the first radiologists in the United States to apply CT as well as MRI imaging for the purpose of identifying genomic spine disorders. It continues to be clear that JDD is but one part of the spectrum of genomic spine disorders and is frequently seen in association with other congenital abnormalities (the "Zebra Phenomenon" principle). 

The author's experience confirms that the majority of all patients (most particularly young individuals) presenting with significant back complaints have some form of an underlying genomic spine disorder.  It is now clear that about 80% of patients being advised to have spinal surgery (typically multi-level fusions) actually have previously unrecognized and untreated underlying genomic disorders. 

Neuroradiologist Mark Myers (Center for Diagnostic Imaging, Minneapolis MN) has kindly provided some typical examples of the genomic spine disorder Juvenile Discogenic Disease for Burton Report.
 
This MRI of the lumbar spine is a classic example of JDD.  Although the discs are well hydrated there is loss of the normal lordotic curve (which, if chronic,  indicates long-term mechanical segmental dysfunction).  There are multiple (subtle) endplate irregularities consistent  with notochord residual clefts, persistent vascular channels, and a "scalloped" appearance of endplates.  At L5-S1 there is narrowing of the disc interspace and a chronic annular tear with an associated high intensity zone
 
 In this case the endplate deformities are much more subtle.  The loss of lordosis is present and significant desiccation, degeneration, and narrowing of the L3-4, L4-5, L5-S1 disc interspaces is present.  The disc absorption is allowing the process of self-stabilization to occur.  This process, (if not prevented by the presence of nicotine) is the normal culmination of the degenerative cascade.
  The degenerative changes show here are certainly not subtle.  At L1-2 there is evidence of a chronic sclerosis involving the endplate.  It is not unusual for a patient with such imaging to be free of back pain and when it it present it is often related to a lumbar facet syndrome which is something usually well treated with medial branch injections and RF dennervations.

In 1997 Gundry and Fritts at CDI pointed out that in patients with JDD that "Early recognition with prompt institution of conservative therapy and vocational counseling may be important in these patients to avoid, or at least delay, the complications of degenerative disc disease" (
Gundry C, Fritts H: Juvenile Discogenic Disease, Clin. Ortho. Rel. Res., Number 343, 1997).  Time has proven this to be very good advice.