Abstract
Case Study: POLG-related disorders comprise a continuum of overlapping phenotypes. So far, childhood myocerebrohepatopathy spectrum (MCHS) has been described in only few patients. It presents in the first few months of life with developmental delay, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss.
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