Perlman syndrome: four additional cases and review

Area of Science:

• Genetics
• Pediatrics
• Oncology

Background:

• Perlman syndrome is a rare genetic disorder characterized by nephromegaly, renal dysplasia, Wilms tumor, macrosomia, cryptorchidism, and facial anomalies.
• First described in 1973, it has been observed in twelve children across six families, with autosomal recessive inheritance suggested.
• The condition carries a severe prognosis, often resulting in neonatal death.

Observation:

• This report details four new cases of Perlman syndrome from three families, with non-consanguineous parents.
• Observed manifestations included cardiac defects, hepatic fibrosis, haemangioma, volvulus, intestinal atresia, agenesis of the corpus callosum, and cleft palate.
• Two premature siblings presented with nephromegaly but lacked hamartomas or nephroblastomatosis.

Findings:

• The study expands the known clinical spectrum of Perlman syndrome with novel and rarely reported features.
• The findings support the hypothesis that dysplastic medullary parenchyma in preterm infants may progress to nephroblastomatosis and Wilms tumor.
• All reported children succumbed within their first year of life.

Implications:

• Early identification of renal abnormalities in preterm infants may aid in predicting the risk of developing Perlman syndrome.
• Further research into the genetic and developmental pathways of Perlman syndrome is warranted.
• Understanding the progression from renal dysplasia to Wilms tumor could inform future therapeutic strategies.