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

VernacularTitle:线粒体DNA耗竭综合征7型的多学科诊疗一例
Author: Wenjie SONG ¹ ; Yue FAN ; Xu LI ; Yaping LIU ; Yi DAI ; Xingrong LIU ; Feng FENG ; Xiaowei CHEN
Author Information

1. 中国医学科学院北京协和医院耳鼻喉科,北京 100730
Keywords: mitochondrial DNA depletion syndrome type 7(hepatocerebral type); TWNK gene; severe sensorineural hear-ing loss; ataxia
From: JOURNAL OF RARE DISEASES 2024;3(3):329-334
CountryChina
Language:Chinese
Abstract: This study presents a case of a girl of three year and 4 month old with ataxia and severe sen-sorineural hearing loss for 2 years.In order to improve hearing,she was hospitalized in the PUMC Hospital.Ge-netic 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 in-volvement 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 tempo-rarily,but chose oral symptomatic supportive treatment with coenzyme Q10,folate,levocarnitine,and complex vitamins as recommended.