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caudal regression syndrome and a tethered spinal cord.

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  • caudal regression syndrome and a tethered spinal cord.

    I am putting this for a friend of mine in France. Any advice is welcome.
    "Our son Augustin was born on 3/17/2001 following a pregnancy of 34 weeks and a half. He was diagnosed with caudal regression syndrome and a tethered spinal cord.

    Sphincter involvement has caused numerous instances of pyelonephritis affecting renal function, which is stable however at the moment.
    He was monitored every 6 months by several specialists (orthopedics, neurology, and urology), more often if needed.
    In 2008 he underwent enterocystoplasty (bladder augmentation) as well as a Mitrofanoff procedure.
    Neurological symptoms have been present from birth.
    Regarding orthopedics, he suffers from hypotrophy in the calves, pes cavus (high arches), and triceps muscles that fail to retract.
    Rotular reflexes are active, whereas the Achilles reflex is absent.
    He has experienced neuropathic pain since 2011, for which gabapentin (Neurontin) has offered partial relief.
    After his last MRI, his neurosurgeon noticed that the preexisting syringomyelic cavity had decreased.
    However some nerve roots of the cauda equina appeared taut within the spinal canal, which extends only to the lumbar-sacral junction due to agenesis at the S2 vertebra level.
    One should also note the presence of a small vertebral hypogenesis centered on the T1 and T2 vertebrae; that the medial part of the cervical canal is narrowed; and that no related cranio-cervical anomaly is to be found.
    In 2016 he experienced severe pain as well as lower limb numbness.
    As a result a decision was made to sever the filum terminale.
    Ever since, Augustin has suffered from severe intestinal transit trouble resulting in major disruption in his daily life, keeping him permanently house-bound (a diaper can only last 10 minutes)."

  • #2
    I am not very familiar with this genetic disorder, but found this information on-line:

    Often people with this disorder have deformities of their genitals, and organs such as their bladder and rectum may be malformed or actually non-existent.

    Do you know what he was doing for bowel management prior to the untethering procedure? Has he been tested for possible C. diff. infection? Would a diverting colostomy be an option for him?

    What does he do for urinary management currently? I assume self intermittent catheterization since there is mention of a bladder augmentation and Mitrofanoff in 2008.

    Can you get him and/or his family directly on-line here? Do they speak/write English?

    The SCI-Nurses are advanced practice nurses specializing in SCI/D care. They are available to answer questions, provide education, and make suggestions which you should always discuss with your physician/primary health care provider before implementing. Medical diagnosis is not provided, nor do the SCI-Nurses provide nursing or medical care through their responses on the CareCure forums.


    • #3
      The family does not speak english.
      I will ask the questions and get an answer...