Rare case report of mitochondriopathy
Keywords:Mitochondriopathy, Hypoglycemia, Newborn screening
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.
Finsterer J. Mitochondriopathies. Eur J Neurol. 2004;11:163-86.
Olimpio C, Tiet M, Horvath R. Primary mitochondrial myopathies in childhood. Neuromuscular Disorders. 2021;31:978-87.
Arena I, Pugliese A, Volta S, Toscano A, Musumeci O. Molecular Genetics Overview of Primary Mitochondrial Myopathies. J Clin Med. 2022;11:632.
Wortmann S, Koolen D, Smeitink J, Heuvel L, Rodenburg R. Whole exome sequencing of suspected mitochondrial patients in clinical practice. J Inherited Metabolic Dis. 2015;38:10.
Dettling FB, Robert DP, Adelheid K, Esther MM, Stephanie RV. Infantile Mitochondrial Cardiomyopathy- A Case Report Presenting a Rare Cause for Hypertrophic Cardiomyopathy. J Clin Cardiol Cardiovascular Interventions, 2022;5(3).
Sowjanya SVNS, Gnanabalan M, Anil Jalan B. An Interesting Case of Persistent Hypoxemia In A Neonate. Int J Recent Sci Res. 2017;8(12):22768-9.