Forensic Pathology and Newborn Screening for Inborn Errors of Metabolism: Implications for the Middle East

Abstract

We report the postmortem findings of two infants and one child who died in Iraq. In each case, a specific clinical diagnosis was never established and all died at home. None of the cases had undergone newborn screening tests for inherited diseases. In case 1, a 3-day old neonate died without ever passing meconium. Autopsy revealed complete small intestinal obstruction due to meconium ileus. This was most likely due to cystic fibrosis. In case 2, a 6 month old boy died suddenly and unexpectedly after developing dehydration from vomiting. Autopsy revealed marked hepatomegaly with fatty infiltration that also involved the myocardium and kidney. This was most likely due to Medium Chain Aacyl Co-A dehydrogenase (MCAD) deficiency. In case 3, a 12-year-old boy died after a progressive neurological disorder of childhood. At autopsy, the body showed cachexia and flexion contractions. The brain showed loss of white matter bulk and thinning of the corpus callosum. The major organs showed no abnormalities. Histologic examination revealed only mild spongy change of the white matter. These findings indicate that the child likely had an organic acidemia, most probably phenylketonuria (PKU). These cases highlight the critical importance of newborn screening for inborn errors of metabolism in Iraq, including laboratory testing for PKU, MCAD deficiency and cystic fibrosis. Such screening can prevent unnecessary morbidity and mortality in infants and children. On this basis, forensic pathologists should advocate for widespread newborn screening in the Middle East.