Is renal and urologic findings associated with costello syndrome?: Case report; [Renal ve ürolojik bulgular costello sendromu ile ilişkili midir?]

Özunan Akil I.; Evrengül H.; Çetin M.; Taneli C.

Is renal and urologic findings associated with costello syndrome?: Case report; [Renal ve ürolojik bulgular costello sendromu ile ilişkili midir?]

Date

2013

Authors

Abstract

Costello syndrome is a rare congenital disorder affecting multiple organ systems which is inherited in a autosomal dominant manner. It is a Ras/mitogen activated protein kinase (MAPK) pathway syndrome resulting from HRAS mutations. HRAS mutations are responsible for cell pro liferation, motility, apopitosis and cell aging in eukaryotes.The phenotypic characteristics of Costello syndrome are atypical signs of face, wide mouth, thick lips loose, soft skin, deep lines on the hands and soles of the feet, kyphoscoliosis, cervical kyphosis, thick curly hair, nasal fibroma, hyperker atosis, hyperpigmentation, and also there are skeletal and orthopedic problems. Which is similar to the findings resulting from this path disregulation. Cardio fascia cutaneous syndrome and Noonan syndrome and the differential diagnosis should be made. Diagnosis is based on genetic testing in 80 90% of the cases whereas lO% are diagnosed clinically. In this report, a case presented who has got phenotypic characteristics of Costello syndrome with coarse facial appearance, eccentricity root of the nose, the palate dome, large lips, large mouth, and hypertrophic cardiomyopathy with the renal and urological anomaly presented.. Copyright © 2013 by Türkiye Klinikleri.