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jsmc-10090


HUGE UMBILICAL HERNIA WITH SKIN ULCERATION AND BOWEL PROTRUSION IN A PATIENT WITH MUCOPOLYSACCHARIDOSIS: A CASE REPORT


Sarmad Hiwa Arif *


* Department of Surgery, School of Medicine, Faculty of Medical Sciences, University of Sulaimani.


Submitted: 23/7/2015; Accepted: 11/1/2016


ABSTRACT


Background 

Mucopolysaccharidosis (MPS) is a rare inherited storage disease caused by defect or absence of a lysosomal enzymes that result in systemic deposition of MPS recently called glycosaminoglycans (GAG) with development of a spectrum of diseases of different presentations and severity. Hurler disease is a subtype of (MPS I) caused by α L-iduronidase enzyme deficiency in the lysosomes.
A thirteen-year-old female mentally retarded patient, short stature with multiple congenital abnormalities admitted to Sulaimaniyah emergency hospital in the Kurdistan of Iraq. She had a huge irreducible umbilical hernia with ulceration and protrusion of the omentum and small bowel from the hernia sac diagnosed after
admission as Hurler syndrome. She was treated successfully as an emergency case and the patient discharged well following a challenging operation..

KEYWORDS

Hernia, Hurler disease, Mucopolysaccharidosis, Ulcerated umbilical hernia, Anesthetic risks in mucopolysaccharidosis.