• A&A practice · Apr 2019

    Case Reports

    Anesthetic Implications of a Patient With Kniest Dysplasia and Mitochondrial Disease: A Case Report.

    • Irim Salik, Keshar Kubal, and Samuel Barst.
    • From the Department of Pediatric Anesthesiology at Westchester Medical Center, New York Medical College, Valhalla, New York.
    • A A Pract. 2019 Apr 15; 12 (8): 267-269.

    AbstractKniest dysplasia, or metatropic dysplasia type II, is a rare chondrodysplasia caused by abnormal type II collagen. Clinically, it is characterized by dwarfism, deafness, skeletal derangements, and ocular abnormalities. Mitochondrial diseases produce a spectrum of abnormalities in affected individuals and predominantly impact organs of high energy utilization, including the brain, skeletal muscles, kidneys, and liver. We present the case of a 6-year-old boy with both Kniest dysplasia and underlying mitochondrial disease for examination under anesthesia before cataract surgery. Successful anesthetic management of a patient with Kniest dysplasia and a mitochondrial myopathy is discussed.

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