HUGE UMBILICAL HERNIA WITH SKIN ULCERATION AND BOWEL PROTRUSION IN A PATIENT WITH MUCOPOLYSACCHARIDOSIS: A CASE REPORT
DOI:
https://doi.org/10.17656/jsmc.10090Keywords:
Hernia, Hurler disease, Mucopolysaccharidosis, Ulcerated umbilical hernia, Anesthetic risks in mucopolysaccharidosisAbstract
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.
References
Pyeritz RE. Inherited diseases of Connective Tissue In: Goldman L, Schafer AI, editors. Cecil Text Book of Medicine. 25th ed. New York: Saunders, an imprint of Elsevier Inc.; 2016. p. 1733-9.e2.
Arn P, Whitley C, Wraith JE, Webb HW, Underhill L, Rangachari L, et al. High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. Journal of pediatric surgery. 2012;47(3):477-84. DOI: https://doi.org/10.1016/j.jpedsurg.2011.09.042
Barnett C, Langer JC, Hinek A, Bradley TJ, Chitayat D. Looking past the lump: genetic aspects of inguinal hernia in children. Journal of pediatric surgery. 2009;44(7):1423-31. DOI: https://doi.org/10.1016/j.jpedsurg.2008.12.022
Clarke LA, Heppner J. Mucopolysaccharidosis Type I. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews(R). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. All rights reserved.; 1993.
Bonnichsen C, Dearani J, Schaff H, Abel M, Connolly H. Surgical Intervention in Mucopolysaccharidoses–Related Valvular Heart Disease. Journal of the American College of Cardiology. 2013;61(10):E1935. DOI: https://doi.org/10.1016/S0735-1097(13)61935-X
Belk KW, Craver CW. Drivers Of Utilization Among Patients With Mucopolysaccharidosis In The Hospital Setting. Value in Health. 2014;17(3):A62. DOI: https://doi.org/10.1016/j.jval.2014.03.364
Ziyaeifard M, Azarfarin R, Ferasatkish R, Dashti M. Management of difficult airway with laryngeal mask in a child with mucopolysaccharidosis and mitral regurgitation: a case report. Research in cardiovascular medicine. 2014;3(2):e17456. DOI: https://doi.org/10.5812/cardiovascmed.17456
Megens JH, de Wit M, van Hasselt PM, Boelens JJ, van der Werff DB, de Graaff JC. Perioperative complications in patients diagnosed with mucopolysaccharidosis and the impact of enzyme replacement therapy followed by hematopoietic stem cell transplantation at early age. Paediatric anaesthesia. 2014;24(5):521-7. DOI: https://doi.org/10.1111/pan.12370
de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, et al. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet journal of rare diseases. 2011;6:55. DOI: https://doi.org/10.1186/1750-1172-6-55
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