Series of Two Indian Infants with Vici Syndrome

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.