Abstract
Antenatally diagnosed echogenic kidneys have several underlying etiologies such as
aneuploidies, monogenic isolated or syndromic polycystic kidney disease, infections
and rarely with inborn error of metabolism. Even a careful evaluation for additional
abnormalities may not be able to provide a specific diagnosis. However with next generation
sequencing, the diagnostic odyssey can be ended successfully. We report one such case
of carnitine palmitoyltransferase II deficiency (CPT2) deficiency that manifested
as isolated echogenic kidneys with early neonatal demise where successful early prenatal
diagnosis was possible in the subsequent pregnancy.
Keywords
Echogenic kidneys - Carnitine palmitoyltransferase II deficiency - Next generation
sequencing
