Publication:

Mitochondrial disorders-challenges in pregnancy: a case report

Mitochondrial disorders (MD) encompass a diverse group of genetic disorders affecting the intra-cellular energy-producing organelles. During pregnancy, these disorders present unique challenges that warrant special attention. Here, we report a case of a 28-year-old woman who presented with ptosis since, 11 years of age. Muscle biopsy revealed mitochondrial cytopathy, but genetic evaluation was not done. She presented to us in early pregnancy. Whole Mitochondrial genome sequencing showed no pathological / likely pathological variant. Whole Exome sequencing revealed a Homozygous missense variant in exon 6 of RRM2B gene (c.629 A>G;p.lys 210 Arg) associated with Mitochondrial DNA depletion syndrome 8A and 8B, which has an autosomal recessive pattern of inheritance. The review of literature discusses the implications of MD on pregnancy outcomes and explores the management strategies to optimize maternal and fetal outcomes.