A Case of Multidisciplinary Diagnosis and Treatment of Mitochondrial DNA Depletion Syndrome Type 7
SONG Wenjie,
FAN Yue,
LI Xu,
LIU Yaping,
DAI Yi,
LIU Xingrong,
FENG Feng,
CHEN Xiaowei
Affiliations
SONG Wenjie
Department of Otorhinolaryngology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
FAN Yue
Department of Otorhinolaryngology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
LI Xu
Department of Anesthesiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
LIU Yaping
Institute of Clinical Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
DAI Yi
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
LIU Xingrong
Department of Cardiac Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
FENG Feng
Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
CHEN Xiaowei
Department of Otorhinolaryngology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
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.
