Series of Two Indian Infants with Vici Syndrome
Year: 2025
Type: article
Study design: Case Report
Abstract: Vici syndrome is a rare autosomal recessive disease with <100 cases reported in literature. This presents as multisystemic disorder with no treatment reported so far. Our cases were born to apparently healthy families with clustering of cardinal features. Genetic testing was done in early infancy which confirmed homozygous Ectopic p-granules protein 5 mutation. Both the cases received multiple courses of antibiotics for recurrent respiratory infections. One died during infancy while the other has recently completed infancy on home oxygen and tube feeds. Families with this syndrome should be offered antenatal counseling and diagnostic genetic testing to detect the syndrome, as imaging alone is likely to miss some cases.
Source: Journal of Clinical Neonatology
Institution: Max Super Speciality Hospital
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4411896340