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Dr Francomano on Chiari malformation

Discussion in 'Connective Tissue Disorders/Ehlers-Danlos Syndrome' started by Allyson, May 13, 2014.

  1. Allyson


    Australia, Melbourne
    As shared from Dr. Clair Francomano at Harvey Institute of Genetics. "The term "Chiari Malformation" is used to describe the situation where the cerebellum, a structure at the base of the brain, is extending through the opening at the base of the skull, which is called the foramen magnum, The extension through the foramen magnum is called "herniation". This can result from cranial settling, which "pushes" the cerebellum through the opening, or tethered cord, which pulls the cerebellum from below. The conventional definition of a Chiari Malformation states the cerebellum tonsils must protrude at least 5mm below the foramen magnum. However, patients witih less extreme herniations can also experince signficant neurological symptoms involving the brain stem and cerebellar functions. A wide variety of neurologic symptoms, include headaches, neck pain, tinnitus, swallowing difficulties, visual dusturbances, a sensation of pressure behind the eyes, autonomic nervous system dysfunction (POTS, neurally mediated hypotension), sleep disturbances, brain fog and memory issues may result from Chiari Malformations.....

    Another complication of hereditary connective tissue disorders is called occult tethered cord. In this condition, a band of connective tissue called the filum is wrapped around the base of the spinal cord and exerting pressure on the nerves that go to the legs, pelvis, bladder and bowel. This condition may cause numbness in the legs and pelvis area as well as severe incontinence as well. Because of the hyperextensibility of the connective tissue in patients with this disorder, the filum may become stretched out over the years and is not visible on an MRI. This is why it is called "occult", it cannot be seen using current imaging techniques. Diagnosis is usually made based on clinical findings and also the consequences of tethering which may be seen on a cervical and brain MRI, effecting the angles between specific landmarks in the spine and skull (Milhorat TM et al. Association of Chiari Malformation type 1 and tethered cord syndrome: preliminary results of sectioning filum terminale. Surgical Neurology 72: 20-25, 2009). At this time, it is not known why this condition occurs more frequently in patients witih hereditary disorders of connective tissue."

    ( My own side note... urodynamics testing has been found to aid in the confirm of many with OTC by the confirmation of a neurogenic bladder. Dr. Murdock in Maryland is one expert Urologist on this. )

    PLEASE see the file document "Basics of Occult Tethered Cord" as well.

    Ehlers Danlos Syndrome Criteria:

    For an EDS dx you need 2 major, one major and 2 minor or 4 minor. If there is a first degree relative, it changes... 2 minor only are needed.

    Brighton Criteria:

    Major Criteria

    •A Beighton score of 4/9 or greater.

    •Arthralgia for longer than 3 months in 4 or more joints

    Minor Criteria

    •A Beighton score of 1, 2 or 3/9 (0, 1, 2 or 3 if aged 50+)

    •Arthralgia (> 3 months) in one to three joints or back pain (> 3 months), spondylosis, spondylolysis/spondylolisthesis.

    •Dislocation/subluxation in more than one joint, or in one joint on more than one occasion.

    •Soft tissue rheumatism. > 3 lesions (e.g. epicondylitis, tenosynovitis, bursitis).

    •Marfanoid habitus (tall, slim, span/height ratio >1.03, upper: lower segment ratio less than 0.89, arachnodactyly [positive Steinberg/wrist signs].

    •Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring.

    •Eye signs: drooping eyelids or myopia or antimongoloid slant.

    •Varicose veins or hernia or uterine/rectal prolapse.

    * Family history.

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