Literature DB >> 30285969

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

Irim Salik1, Keshar Kubal, Samuel Barst.   

Abstract

Kniest 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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Year:  2019        PMID: 30285969     DOI: 10.1213/XAA.0000000000000906

Source DB:  PubMed          Journal:  A A Pract        ISSN: 2575-3126


  1 in total

1.  Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report.

Authors:  Josef Finsterer; Subhankar Chatterjee; Ritwik Ghosh
Journal:  Cureus       Date:  2020-12-03
  1 in total

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