NYMC Faculty Publications

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

DOI

10.1213/XAA.0000000000000906

Journal Title

A&A Practice

First Page

267

Last Page

269

Document Type

Case Report

Publication Date

4-1-2019

Department

Anesthesiology

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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