Treatment of congenital toxoplasmosis with pyrimethamine combined with sulfadiazine in a Chinese neonate: a case report.

This work reports a case of neonatal congenital toxoplasmosis in which the standard regimen of pyrimethamine combined with sulfadiazine was administered under conditions of limited drug accessibility in China, with multidisciplinary collaboration and long-term follow-up. The infant was a male born at 36⁺⁶ weeks of gestation. Postnatal serological screening and cerebrospinal fluid (CSF) next-generation sequencing (NGS) confirmed the diagnosis of mildly symptomatic congenital toxoplasmosis. In the initial phase of treatment, due to the lack of routine access to standard therapeutic drugs in China, azithromycin was administered as empirical therapy. Subsequently, through multidisciplinary discussions and comprehensive communication with the family, and after obtaining informed consent from the parents who sourced the medications themselves, standard combined therapy with pyrimethamine, sulfadiazine, and folinic acid was initiated, strictly following an individualized regimen. The infant tolerated the treatment well throughout the course, with no significant adverse reactions. Outpatient follow-up at one year showed no adverse events, with normal growth and development assessments. This case demonstrates that, by adopting a standardized approach to address the challenge of drug accessibility, the implementation of this standard treatment regimen is feasible in China, providing a valuable reference for the clinical management of similar rare diseases.