Two newborns, male and female, with congenital malformations of the same mother and deceased at 10 and 45 minutes of life respectively, who underwent necropsy examination.
The first of the cadavers, corresponding to the most severe respiratory failure, died with a clinical judgment of severe respiratory failure with suspicion of Potter syndrome with the finding of severe oligohydramnios; was born by emergency cesarean section for presentation.
The external examination revealed a subcyanotic tonality, facies tapered with cleft palate, nasal polyposis, micrognathia, wide root and prominent occipucio.
The abdomen, globuleus, hard and fixed abolished allowed the placement of two large masses occupying both renal fossae and hemiabdomens.
The opening of cavities showed the presence of two large renal masses of 10 x 8 x 5.5 cm and 12 x 8 x 6 cm with weights of 190 and 235 g, respectively.
Although the renal silhouette could be discerned, the surface, by giving rise, showed numerous cystic formations of serous content; at the cut these cysts showed a heterogeneous size being larger those located at the cortical level.
The right and left lungs weighed 17 and 15 gr (usual weight of 49 gr) showing a uniform reddish hue; both were compressed as a result of diaphragmatic elevation conditioned by the large size of the kidneys.
The rest of the organs showed no significant macroscopic alterations except the positional alterations derived from renal compression.
In the second of the cadavers, corresponding to the male, similar morphological changes were observed, although the size of the abdominal viscera was even greater, with weights of 300 and 310 g. The rest of the diaphragms were
In both cases a detailed histological study was performed, focusing especially on the kidneys in which multiple cysts of different sizes with saccular morphology at cortical level were demonstrated.
These cysts occupied most of the corticomedullary parenchyma, although the preserved areas showed no significant alterations except focal immaturity.
These cysts were covered by a simple epithelium that varied from flat to narrow.
Medullary cysts, of smaller size and more rounded, were covered by an epithelium with predominance of layers.
After the kidneys, the most striking alterations were found in the liver where proliferation and dilation, even cystic, of the bile ducts at the level of the portal spaces were observed.
These findings led to the diagnosis of autosomal recessive polycystic kidney disease in children in both cases.
