Журнал клинических случаев

Sotos Syndrome with Co-Morbid Polycystic Kidney Disease: A Case Report

Abstract

Vered Shkalim-Zemer, Miriam Davidovits, Osnat Konen and Lina Basel-Vanagaite

Sotos syndrome is a genetic condition characterized by excessive growth both prenatally and postnatally, macrocephaly, distinctive facial gestalt, various degrees of learning difficulty and additional clinical features. We report on a 14-month-old male infant with the clinical diagnosis of Sotos syndrome, who was also found to have polycystic kidneys that were first detected by renal sonography at the age of 4 months. This association has been reported only once previously in a patient with Sotos syndrome where autosomal dominant polycystic kidney disease segregated independently in the family. We discuss the possible urogenital findings in Sotos syndrome as well as the association between this syndrome and polycystic kidney disease.