摘要
Genetic syndromes that mimic congenital infection are important to recognize b ecause of the associated risk of recurrence. We describe two brothers born to consanguineous parents with clini cal features suggestive of intrauterine infection but with negative serologic in vestigations. Our observations suggest that Aicardi-Goutiéres syndrome (AGS) a nd pseudo-TORCH syndrome likely represent the same disorder.
Genetic syndromes that mimic congenital infection are important to recognize b ecause of the associated risk of recurrence. We describe two brothers born to consanguineous parents with clini cal features suggestive of intrauterine infection but with negative serologic in vestigations. Our observations suggest that Aicardi-Goutiéres syndrome (AGS) a nd pseudo-TORCH syndrome likely represent the same disorder.
