In what researchers are calling a milestone moment for Indian paediatrics, doctors at Bengaluru's Indira Gandhi Institute of Child Health (IGICH) have identified the country's first known case of Pseudo-TORCH syndrome associated with the USP18 gene (an ultra-rare genetic disorder with only 11 documented cases worldwide before this one).

The discovery, published in a Wolters Kluwer peer-reviewed journal, places India on the global map of a condition so uncommon that most clinicians will never encounter it in their careers. With this new case, the worldwide tally rises to 12.

What Is Pseudo-TORCH Syndrome?

Pseudo-TORCH syndrome type 2 is an autosomal recessive disorder caused by biallelic mutations in the USP18 gene, a key regulator of the body's antiviral response. The peculiarity of the disorder is that when this gene malfunctions, even if you don't have a viral infection, the immune system acts as if you do. As a result, the patient shows symptoms that mimic congenital TORCH infections such as toxoplasmosis, rubella, CMV, herpes, syphilis. Doctors describe it as a "clinical mirage" that can easily mislead even experienced specialists.