PRUNE BELLY SYNDROME-CASE REPORT
DOI:
https://doi.org/10.46793/PP181214011CKeywords:
Prune Belly syndrome, rare congenital anomalies, preventionAbstract
Introduction: Prune Belly syndrome is a rare congenital anomaly. The main characteristics of the Belly syndrome are the underdevelopment of the abdominal muscles and the skin of this part is wrinkled ( "dry plum"), urinary tract anomalies and cryptorchism. The first description of the Belly syndrome was given by Frölich in 1839, while 1901 Osler gave the name to the syndrome. The incidence is 1:35 000 to 1:50 000 live births. Over 95% of the diseased are male, and only 3-5% are female. Pulmonary, skeletal, cardiac and digestive malformations may occur in 75% of all cases. However, anomalies of the urinary tract are the most important as prognostic factor. The cause of the disease is not well known. The homozygous mutation on the muscarinic cholinergic receptor 3 genes (CHRM3) on chromosome 1q43 was detected in one family.
Prenatal ultrasound can identify existing anomalies of the urinary tract. When diagnosed, treatment is symptomatic. The surgical corrections of urinary tract abnormalities and chryptorchism are the main surgical goals. The implantation of silicone implants is the possibility for replacement of the lacking muscular abdominal wall.Still, the outcome of such children is bad. Some babies are stillborn, some die at birth or within the first few weeks of life due to severe lung and kidney disorders.
Case report: We present a newborn referred to the Children's Surgery Department due to the "unusual" appearance of the abdominal wall. A clinical examination of the patient revealed highly suspected diagnosed of Sy Prune Belly which was confirmed in Tertiary care Institution. The patient had a typical trias of clinical features. Due to severe kidney failure, fatal outcome happened at the age of a school child.
Conclusion: In the Zaječar municipality for the past 30 years, it is the only one patient with the Prune Belly syndrome, unfortunately with a fatal outcome. This syndrome arouses many medical and ethical issues. Prevention does not exist and obviously surgical treatment depends on technical availability for fetal surgery.
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