Aicardi-Goutières syndrome (AGS) induces innate immune activation. It can present with cerebral calcifications and hepatosplenomegaly mimicking congenital infections. The present case report discusses the diagnosis and treatment of a case of fetal cardiomyopathy whose postnatal symptoms resembled TORCH (toxoplasmosis, other agents, rubella, cytomegalovirus, herpes and syphilis) infection. The mother had a history of two lost pregnancies due to fetal cardiomyopathy and the same was identified in the current pregnancy. At 34 weeks of gestation, the mother delivered a late preterm male neonate due to intrauterine growth restriction weighing 1590 g with respiratory distress and cardiomyopathy at birth. The neonate had cerebral calcifications, hepatosplenomegaly and thrombocytopenia. As the infant’s TORCH IgM titre was negative, pseudo-TORCH syndrome similar to AGS was suspected. Clinical exome sequencing of the parents and fetus identified no genes for hydrops fetalis or fetal cardiomyopathy; however, the AGS TREX1 gene was identified in the neonate, while additional symptoms resembled TORCH infection. The neonate was discharged and has shown improvement with oral baricitinib treatment for the last 9 months.
- Materno-fetal medicine
- Neonatal health
- Congenital disorders
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Contributors NP drafted, edited the case report and treated the patient. SB helped in drafting the case report and helped in treating the patient. LL and DC helped in writing and editing the case report. All authors approved the final draft.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.