ACUTE-PANCREATITIS IN AN INFANT WITH LACTIC-ACIDOSIS AND A MUTATION AT NUCLEOTIDE-3243 IN THE MITOCHONDRIAL-DNA TRNA(LEU(UUR)) GENE

The A to G point mutation at position 3243 of the mitochondrial DNA tR NA(Leu(UUR)) gene is commonly found in patients with the syndrome of m itochondrial encephalomyopathy, lactic acidosis and stroke-like episod es (MELAS). A male patient was referred at 7 months with failure to th rive, developmental delay, microcephaly and hypotonia since age 2 mont hs. He had developed lactic acidosis and increasingly frequent seizure s since age 5 months. The patient was admitted at 15 months with pleur al and pericardial effusions, which resolved. Three weeks later he dev eloped evidence of pancreatitis with hyperglycemia, sudden profound in crease in lactic acidosis and increased serum lipase, He died unexpect edly the next day of cardiorespiratory collapse following an acute gas tro-intestinal hemorrhage. Analysis of mitochondrial DNA (mtDNA) in mu scle showed heteroplasmy for the mutation MTTL1MELAS3243G (> 95%). In fants with this mutation commonly present with failure to thrive, sign ificant developmental delay, and hypotonia, while stroke-like episodes occur later in survivors. They usually have lactic acidosis and a hig h percentage of mutant mtDNA in muscle. Conclusion Respiratory chain d isorders including the mtDNA MTTL1MELAS3243G mutation should be suspe cted in infants with this systemic and neurologic presentation. Pancre atic dysfunction, both acute and chronic, needs to be added to the lis t of symptoms of disorders of the respiratory chain.