A Case of Multidisciplinary Diagnosis and Treatment of Mitochondrial DNA Depletion Syndrome Type 7

Abstract

This study presents a case of a girl of three year and 4 month old with ataxia and severe sensorineural hearing loss for 2 years. In order to improve hearing, she was hospitalized in the PUMC Hospital. Genetic testing performed found compound heterozygous variants of c.1186C > T(p.P396S) and c.1357C > T(p.R453W) in TWNK gene. After a multidisciplinary discussion of the case, the team suspected mitochondrial DNA depletion syndrome type 7(hepatocerebral type). The patient has shown nervous system impairment involvement but no evidence of liver dysfunction. The efficacy of cochlear implantation is uncertain and general anesthesia if applied will accelerate the progress of encephalopathy and might lead to multiple organ failure. Unsure of the perioperative safety, the parents of the girl did not chose the option of hearing intervention temporarily, but chose oral symptomatic supportive treatment with coenzyme Q10, folate, levocarnitine, and complex vitamins as recommended.

Keywords

• mitochondrial dna depletion syndrome type 7(hepatocerebral type)
• twnk gene
• severe sensorineural hearing loss
• ataxia