Chagas Disease Across Pregnancy and Early Infancy: Leukoencephalomalacia and Achondroplasia in Two Unusual Cases

Background

Congenital Chagas disease remains an underdiagnosed cause of neonatal morbidity and mortality in endemic regions. Although most infected neonates are asymptomatic or present with nonspecific findings, severe and atypical manifestations involving the central nervous system or coexistence with genetic disorders are rarely reported. The full spectrum of neurological injury and potential interactions between Trypanosoma cruzi infection and fetal developmental conditions remain poorly characterized.

Cases

We report two unusual clinical presentations of T. cruzi infection during early infancy and pregnancy from El Salvador and Colombia. The first case involved a 2-month-old female infant who presented with septic shock, acute kidney injury, coagulopathy, and respiratory failure. Direct parasitological examination revealed circulating T. cruzi trypomastigotes, confirming acute Chagas disease; however, the route of transmission could not be definitively established. Despite a favorable parasitological response to nifurtimox, brain magnetic resonance imaging subsequently demonstrated bilateral cystic leukoencephalomalacia and widespread ischemic sequelae, interpreted as secondary hypoxic–ischemic injury following the severe systemic illness. The second case involved a pregnant woman with confirmed T. cruzi infection whose fetus was prenatally diagnosed with achondroplasia. The neonate developed severe respiratory failure and died 10 days after birth. No alternative infectious or metabolic causes explaining the skeletal dysplasia or fatal outcome were identified.

Conclusion

These cases highlight unusual presentations of T. cruzi infection during early infancy and pregnancy, including severe systemic disease followed by hypoxic–ischemic neurological sequelae and coexistence with fetal achondroplasia. They underscore the importance of maternal screening and systematic evaluation of exposed neonates.