Four years clinical follow-up and review analysis in a novel IBA57 mutation associated multiple mitochondrial dysfunction syndrome

Objective To investigate the clinical, imaging and IBA57 gene mutation features in a Chinese patient with multiple mitochondrial dysfunction syndrome, and to evaluated the effect of comprehensive rehabilitation. Methods The clinical data of 1 case of multiple mitochondrial dysfunction syndrome with IBA57 mutation in Department of Rehabilitation, Anhui Provincial Children′s Hospital were analyzed."IBA57""white matter malnutrition"and"IBA57""leukodystrophy"were used as the key words, to search for papers which were included in CNKI, the knowledge service platform of Wanfang Data, and biomedical literature database (PubMed) from its establishment to February 2017.The clinical, imaging and gene mutation characteristics of children with IBA57 gene mutation were summarized. Results Children, male, four years and 8 months, for"movement disorders for nearly 4 years, repeated seizures 1 and a half years"in February 2017 hospitalized again.The boy was admitted into hospital when he was one year of age because of motor and cognitive disorder after fever, Disease was development, The skull MRI showed multiple abnormal signal in bilateral frontal occipital lobe and semi-oval center white matter.Cognitive and verbal improvement was better, and the motor function gradually improved after repeated rehabilitation in our hospital, skull MRI showed that multiple abnormalities were reduced in bilateral frontal occipital lobe and semi-oval center white matter.However, The boy presented twitch when he was three years and 2 months old.Skull MRI showed that multiple abnormal signal increased in bilateral forehead occipital lobe and semi-oval center white matter in four years and 3 months and 6 months of age.The child was diagnosed with white matter disease after multiple hospitalizations, and c. 286T>C(p.Tyr86His)and c. 1053G>A(p.Trp351*)were found in the IBA57 gene through exome sequencing analysis, as the 2 mutations constituted complex heterozygous mutation.The former was inherited from the mother, and the mutation was missense mutation, so the protein structure was predicted to be harmful; the latter was inherited from the father, and the mutation was nonsense mutation, which could lead to the coding protein truncation, and this was never reported before.The child was diagnosed as multiple mitochondrial dysfunction syndrome type 3, followed by treatment with high-dose coenzyme Q10, ATP, compound vitamin B and others.While taking levetiracetam and topiramate antiepileptic, and family rehabilitation, his condition was stable. Conclusion The extensive white matter lesions presented in the child may be caused by mitochondrial disease with IBA57 gene mutation. Key words: IBA57; Multiple mitochondrial dysfunction syndrome; White matter; Epilepsy; Mitochondria