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

Keywords

Anesthesia, Cataract Extraction, Cleft Palate, Collagen Diseases, Dwarfism, Face, Hyaline Membrane Disease, Mitochondrial Diseases, Osteochondrodysplasias

Disciplines

Medicine and Health Sciences

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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