Genes, crianças e pediatras: Associação VACTERL e doença mitocondrial

Abstract

VACTERL association is characterized for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In this patient we found a also a poor weight gain and microcephaly associated with normochromic and normocytic, anemia, uncontrolled glycemia (hypoglycemia and hyperglycemia) and glycosuria with tubulopathy, nephrotic proteinuria and metabolic acidosis with hyperlactacidemia with led us to suspect and confirm a mitochondrial respiratory chain defect.