Genetic diagnosis of a child with regression and accumulation of metal in the brain

A 27 month-age girl came to us with regression form 5 months ago. She haddystonia and normal deep tendon reflexes. She had relative parents with nocomplication in delivery.Report of the brain CT scan was normal. We got Brain MRI and saw hyperintensity in glubuspallidus and dentate nucleus in T1 and hypo intensity of theregions in T2; so there was collection of some metals in the brain.In toxicology evaluation, we did not find any problem. After evaluation ofwhole exome sequencing, we found homozygote mutation in the SLC30A10gene; so the diagnosis hypermanganesemia with dystonia type 1 confirmed.Conclusion: Sometimes genetic testing is helpful for diagnosis of raresyndromes that we can’t recognize with only clinical studies.

کلیدواژه ها:

regression ، hypermenganesemia with dystonia ، genetic testing