NEW DELHI: Indian researchers have identified a rare USP18 gene mutation linked to recurrent neurological decline in children.

The rare USP18 gene mutation offers crucial insights into a neurological disorder previously documented in only 11 cases worldwide and now reported for the first time in India.

According to the team from Indira Gandhi Institute of Child Health, who conducted the research in collaboration with Ramjas College, University of Delhi, and Redcliffe Labs, pseudo-TORCH syndrome type 2 is a very complicated rare inherited condition that affects how a child's brain grows and functions.

Children with this disorder often show severe neurological symptoms that resemble congenital infections, but without any actual infection.

The USP18 gene usually helps regulate the body's immune response, preventing excessive inflammation. When this gene does not work correctly, the body's defense system becomes overactive and begins to harm the brain.

The research, published in Clinical Dysmorphology, said that the study adds valuable information to the small number of known cases worldwide and introduces a new genetic variant to medical literature.

The researchers findings came from the case of an 11-year-old girl who began experiencing symptoms from infancy, including repeated episodes of febrile encephalopathy - fever-linked unconsciousness, seizures, delayed development, and a small head size.

Over the years, her scans also showed increasing calcium deposits in different parts of the brain.

With only 11 cases reported worldwide, this study adds a meaningful contribution to global medical knowledge.

To understand the underlying cause of these recurring neurological problems, advanced genetic testing was recommended.