Prune-belly syndrome in an Egyptian infant with Down syndrome: a case report

IntroductionPrune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare.Case presentationA 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis.

He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care.

On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21.

Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction.

Serum creatinine concentration was 90 mumol/litre, serum sodium was 132mmol/litre and serum potassium was 5.9mmol/litre.

Conclusion: We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown.

Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies.

Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

Author: Kotb A Metwalley, Hekma S Farghalley and Alaa A Abd-Elsayed
Credits/Source: Journal of Medical Case Reports 2008, 2:322

Published on: 2008-10-02

Copyright by the authors listed above - made available via BioMedCentral (Open Access). Please make sure to read our disclaimer prior to contacting 7thSpace Interactive. To contact our editors, visit our online helpdesk. If you wish submit your own press release, click here.

Comments Page 0 of 0

There are currently 0 comments to display.

+ Add New Comment

Custom Search