Echogenic Kidneys  as an Antenatal Clue to the Metabolic Etiology: A Case Report

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.
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research