Reversed cortico-medullary differentiation in kidneys on fetal magnetic resonance imaging - a case series.
Monika Bekiesinska-Figatowska, Jaroslaw Madzik, Marcin Ring et al.
✦ AI-curated · Sources linked
Case in brief
Three unrelated fetuses had hyperechoic kidneys on ultrasound and reversed signal intensity between the renal cortex and pyramids on fetal MRI sequences. Genetic testing identified the same deletion in the 17q12 region of chromosome 17 in all three, associated with renal cysts and diabetes (RCAD) syndrome. After birth, ultrasound showed multiple tiny kidney cysts in each infant.
What made this case unusual
Reversed cortico-medullary differentiation had been described on fetal ultrasound, but this report documented the finding on fetal MRI and linked it in these cases to a shared 17q12 deletion.
Diagnostic / clinical pearl
In a fetus with hyperechoic kidneys, reversed cortical and pyramidal signal on MRI may be a clue to a 17q12 deletion associated with RCAD syndrome.