Publication:

Rare case report of mitochondriopathy

We present the case of a term male neonate who was apparently well baby and deteriorated with hypoglycemic episode followed by deterioration with the child going in for respiratory failure and subsequently shock requiring ventilation and inotropic support which was refractory to all treatment, eventually resulting in a mortality. Investigative panel reports later showed that the baby had a mitochondriopathy-primary mitochondrial myopathy, which was the diagnosis responsible for the baby’s clinical presentation. Although mitochondriopathies do not have a specific treatment, early diagnosis of milder variants and understanding their pathophysiology helps in further facilitating diagnostic approach for the future.