Case summary

The child was the firstborn of a consanguineous Turkish couple (first cousins). Third trimester ultrasound examination revealed a hyper-echogenic colon (Fig. 1). The family history revealed that a paternal uncle had suffered from lithiasis and another was on dialysis in Turkey without an etiology for his end stage renal failure.

Fig. 1
figure 1

Ultrasound examination at third trimester. Hyper-echogenic colon (arrow)

Questions

  1. 1.

    What is your diagnosis for the foetus?

  2. 2.

    Which complementary investigations do you suggest before and after birth?

  3. 3.

    Which treatment and what kind of monitoring do you propose after birth?