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2006-09-26-14 Answer to the case of the week 182 © Cuillier

Answer to the case of the week #182

November 30 - December 14, 2006

Cuillier F*, MD, J. Chouchani**, MD, Abdou M**, MD, Bideault J***, MD, Fossati P****, MD

* Department of Gynecology, Félix Guyon’Hospital *** Department of Radiology, Félix Guyon’Hospital **** Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
** Department of Gynecology, Hopital, 97400 Mamoudzou, Mayotte’s island, France.

A 25-year-old woman G5P4 was referred to our hospital at 32 weeks of pregnancy due to macrosomia, ascites and bilateral nephromegaly. In her previous history there was a fetal demise after birth. The patient did not perform any screening test. There were no signs of maternal-fetal blood incompatibility. The ultrasound findings were:

- Large isolated ascites with no other signs of hydrops
- Bilateral kidney’s enlargement without increased echogenicity. The corticomedullary differentiation seemed normal
- A normal urinary bladder
- Three vessels umbilical cord
- Increased abdominal biometric parameters with subnormal other biometric parameters (around 75th percentile)
- Normal amniotic fluid level

The first suggested diagnosis was Perlmann syndrome. Differential diagnosis was done with Beckwith-Wiedemann syndrome, but the baby hasn’t omphalocele. The patient was counseled and decided not to terminate the pregnancy. An amniocentesis was performed with normal karyotype and with high alpha-fetoprotein levels (5.42 MoM). Orosomucoid was 81 mg/l and transferrin was 615 mg/l. Serological tests were normal.

At 37 week of pregnancy, a cesarean section was performed. Female baby was born weighting 5.1 kg wit the Apgar scores 1/1/1. The baby was referred to intensive care unit. The newborn’s abdomen was distended due to bilateral kidney’s enlargement. Postnatal scans confirmed prenatal findings of bilateral kidney’s enlargement. Renal and hepatic functions were abnormal. A puncture of the ascites was performed (>0.5 l), but anuria appeared after that. Despite of intensive neonatal care, the baby died on the first postnatal day due to circulatory collapse and respiratory distress. Parents refused the postmortem examination, but the kidney biopsy was done with the diagnosis of nephroblastomatosis.

Our final diagnosis was Perlman syndrome.

Fetal ascites


Kidney"s enlargement


MRI images


Postnatal image of the baby


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