Recessive kidney disease

José Luis Bartha Rasero, MD , José Arrabal Velazquez, MD

Cádiz, Spain

This fetus presented a large amount of ascites and the initial diagnosis had been omphalocele with intrabdominal mass. On further examination, the ascites had been confused with amniotic fluid and the mass was a large left kidney with Infantile Polycystic Kidney Disease. The left kidney was larger but at pathology there was bilateral involvement with marked asymmetry of size of both kidneys.

Note:

• The large echogenic left kidney
• The ascites
• The anhydramnios

The cord insertion helps assess where the abdominal wall truly is.

The scaphocephaly resulting from the oligohydramnios.

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