Introduction: The mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) mutation is considered one of the ultra-rare genetic diseases that causes affection to mitochondrial metabolism. It is estimated to affect 39 individuals so far in published literature. The known and most common phenotypes are either an infantile onset lethal hypertrophic myopathy that is known as Combined oxidative phosphorylation deficiency 8 (COXPD8) or may present later in early adulthood with encephalopathy and regression and at that time it is known as Leukoencephalopathy, progressive, with ovarian failure (LKENP).

Aims / Objectives of the paper: Here, the authors present a case report of a 9 years old girl, who presented at 17 months of age with truncal hypotonia, and global developmental delay with a brain MRI showing marginal brain volume reduction with prominent cerebellar folia (suggestive of cerebellar atrophy) and was later diagnosed using whole exome sequencing at 2 years of age with a novel homozygous mutation in AARS2 but her clinical phenotype did not fit either the two ends of the known disease spectrum associated with this mutation, especially that she had a normal cardiac evaluation. She continues to follow up with pediatric neurology and started to develop dystonia at the age of 8 years

Conclusion: Clinical presentation of ARRS2 gene mutation has a wide spectrum with unique presentations in different ages. High index of suspicion should be present, especially of symptoms are not fitting into a specific known syndrome and the initial laboratory and imaging studies are not indicative of a specific entity

Hadi Helali
Dubai Health - Al Jalila Children's Hospital
United Arab Emirates

Samar Almuntaser
Dubai Health - Al Jalila Children's Hospital
United Arab Emirates