Encephalopathy due to mutation in mitochondrial fission factor gene

Abstract

Mitochondrial fission factor (MFF) is a part of the protein complex that promotes mitochondrial and peroxisome fission. Mitochondria and peroxisome fission are complex processes of vital importance for cell growth and survival. Here, we are presenting a case of 5-year-old boy with spastic diplegic cerebral palsy, global developmental delay, and intellectual disability with a history of perinatal asphyxia and encephalopathy. MRI brain was suggestive of symmetrical hyper-intensities in bilateral thalami. Whole-genome sequencing indicates homozygous MFF gene mutation at exon 3 of c.19_20delAGinsTT; p.Ser7Phe variant.