Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

ABSTRACT:

Background

Cornelia de Lange syndrome is the prototype for cohesinopathy disorders, which are characterized by defects in chromosome segregation. Kidney malformations, including nephrogenic rests, are common in Cornelia de Lange syndrome. Only one post-mortem case report has described an association between Wilms tumor and Cornelia de Lange syndrome. Here, we describe the first case of a living child with both diseases.

Case presentation

Non-anaplastic triphasic nephroblastoma was diagnosed in a patient carrying a not yet reported mutation in NIPBL (c.4920 G > A). The patient had the typical facial appearance and intellectual disability associated with Cornelia de Lange syndrome in absence of limb involvement. The child's kidneys were examined by ultrasound at 2 years of age

SUBMITTER: Santoro C 

PROVIDER: S-EPMC4904356 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature