Chronic ventilator use in osteogenesis imperfecta congenita with basilar impression: A case report

  • Tyng-Guey Wang
    Department of Physical Medicine and Rehabilitation, UMD-New Jersey Medical School, USA
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  • Gai-Fu William Yang
    Reprint requests to Gai-Fu William Yang MD, Department of Rehabilitation Medicine, Goldwater Memorial Hospital, Roosevelt Island, NY 10044.
    Department of Rehabilitation Medicine, New York University Medical Center at Howard A. Rusk Respiratory Rehabilitation Center, Goldwater Memorial Hospital, Roosevelt Island, NY, USA
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  • Augusta Alba
    Department of Rehabilitation Medicine, New York University Medical Center at Howard A. Rusk Respiratory Rehabilitation Center, Goldwater Memorial Hospital, Roosevelt Island, NY, USA
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      Osteogenesis imperfecta, a rare connective tissue disorder, is known to be associated sometimes with the invagination of the basilar skull. This deformity may disturb respiratory function secondary to brain stem compression and hydrocephalus. In addition, the deformed thoracic cage and fragile ribs make pulmonary care more complicated. A case of 24-year-old man is presented with brain stem compression syndrome secondary to osteogenesis imperfecta congenita with basilar impression. He developed respiratory failure and became tracheostomy positive-pressure ventilator dependent at the age of 21 years. He also suffered multiple skeletal abnormalities and mental retardation, and following the brain stem compression, severe quadriparesis. The patient's condition is stable since he has been using the ventilator and he is currently living in the community.
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