All issues > Volume 45(5); 1999

Case Report

J Korean Pediatr Soc. 1999;45(5):711-715. Published online May 15, 1999.

A Case of 18q-Deletion Syndrome with Hydronephrosis and Anhydrosis

Mun Hee MH Kim¹, Kee Hwan KH Yoo¹, Young Sook YS Hong¹, Soon Kyum SK Kim¹

¹Department of Pediatrics, Korea University Medical College, Seoul, Korea

Correspondence Kee Hwan KH Yoo ,Email: 1

Abstract

The 18q-syndrome is a deletion disorder that occurs in humans. Clinical symptoms are mental retardation, craniofacial anomalies, skeletal deformity, seizure, and hearing loss. 18q- deletion occurs over a broad region, spanning the interval from 18q22.2 to 18qter rather than a single critical region containing 18q. We experienced a case of 18q-syndrome in a male child. It was diagnosed by clinical and chromosomal study. He was a 15month-old infant who was admitted because of prolonged fever and vomiting. And he manifested a depressed midface, esotropia, anhydrosis, and developmental delay. Peripheral blood chromosome studies showed deleted chromosomal material at the distal part of the long arm of chromosome 18. He showed right hydronephroureterosis on IVP. So, he was diagnosed as 18q-syndrome with right hydronephroureterosis and anhydrosis. We report this syndrome with a review and related literature.

Keywords :18q-syndrome, Anhydrosis, Hydronephroureterosis