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Year : 2017  |  Volume : 3  |  Issue : 2  |  Page : 45-47

Hernia in Mucopolysaccharidoses Patients: A Surgical Challenge

1 Assistant Professor, Department of Paediatric Surgery, Indira Gandhi Institute of Medical Sciences, Patna, India
2 Professor, Department of Paediatric Surgery, Indira Gandhi Institute of Medical Sciences, Patna, India
3 Additional Professor, Department of Paediatric Surgery, Indira Gandhi Institute of Medical Sciences, Patna, India
4 Senior Resident, Department of Paediatric Surgery, Indira Gandhi Institute of Medical Sciences, Patna, India

Date of Web Publication11-Dec-2020

Correspondence Address:
Sandip Kumar Rahul
Assistant Professor, Department of Paediatric Surgery, Indira Gandhi Institute of Medical Sciences, Sheikhpura, Patna -14, Bihar
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Source of Support: None, Conflict of Interest: None

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Mucopolysaccharidoses patients tend to have large hernia at multiple sites which are prone to recurrences due to tissue weakening. They are difficult cases for surgery and usually need some form of abdominal wall repair as herniotomy alone does not suffice. We present two such cases - one with Hunter syndrome and the other with Hurler syndrome to stress upon the salient clinical features and management.

Keywords: Hernia; Hunter syndrome; Hurler syndrome; Mucopolysaccharidoses.

How to cite this article:
Rahul SK, Yadav R, Kumar V, Thakur VK, Hasan Z, Sweta. Hernia in Mucopolysaccharidoses Patients: A Surgical Challenge. J Indira Gandhi Inst Med Sci 2017;3:45-7

How to cite this URL:
Rahul SK, Yadav R, Kumar V, Thakur VK, Hasan Z, Sweta. Hernia in Mucopolysaccharidoses Patients: A Surgical Challenge. J Indira Gandhi Inst Med Sci [serial online] 2017 [cited 2022 May 28];3:45-7. Available from: http://www.jigims.co.in/text.asp?2017/3/2/45/303147

  Introduction Top

Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by intralysosomal accumulation of glycosaminoglycans (GAGs) in various tissues[1]. Hernias have been reported to be their earliest and coarse facies their commonest manifestation[2],[3],[4]. Hernias occurring in MPS patients have been described to be large, recurrence prone and involving multiple sites[2]. Surgical repair requires posterior wall repair in addition to herniotomy. We recently came across two such cases and describe here their clinical features and management.

CASE 1: A 6-year-old, 15 Kg male child presented with a progressively enlarging swelling in left inguino-scrotal region since 1 year of age and on right side since 3 years of age. He also had a recurrent history of respiratory tract infection and chronic cough which made the swelling instantly re-appear after reduction. On examination, large, complete, reducible indirect inguinal hernia was found with bowel as its content on the left side [Figure 1]. Right side had a comparatively smaller, reducible hernia. Patient had short stature (80 cm), large head, coarse facies with depressed nasal bridge, macroglossia and short neck. No mental retardation was seen; on auscultation, bilateral expiratory rhonchi could be heard. Liver and spleen were enlarged. Routine blood tests and thyroid profile were normal. Opthalmologic evaluation was normal. Skiagrams of the skull, chest, both hands and lumbosacral spine revealed large head, J-shaped Sella-turcica, oar-shaped ribs, bullet shaped phalanges with short metacarpals and loss of lumbar lordosis. Ultrasonogram (USG) of the abdomen revealed hepatosplenomegaly; Echocardiogram (ECHO) was normal. Clinical findings, urinary excretion of GAGs and deficiency of iduronate-2-sulfatase enzyme on enzyme assay confirmed a diagnosis of Hunter syndrome.
Figure 1: B/L hernia in Hunter's disease

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After optimization of the child’s respiratory status, he was operated and a large hernia with small bowel as its contents was seen on the left side; the opposite side showed similar findings but the hernial defect was smaller. He underwent herniotomy with posterior wall repair. Postoperative stay was uneventful and he was discharged.

CASE 2: A 3-year-old, 10 Kg male child presented with bilateral large, painless, irreducible inguinal swelling since 1 month of age and a swelling over the umbilical region since last 2 years. There were no bladder or bowel symptoms. He also had a history of recurrent respiratory infection for which he received treatment near his house. On examination, bilateral, large, irreducible swelling separate from the testes on either side was found; a reducible umbilical hernia of defect size 2.5cm was also found [Figure 2]. On systemic examination, he had short stature (75 cm), coarse facies with bulging forehead and depressed nose with macroglossia and short neck; visual problem needed opthalmological consultation and bilateral corneal clouding was found; auscultation revealed bilateral rhonchi and no murmur. Cardiac evaluation with ECHO was normal; Routine blood tests and thyroid profile were normal; USG showed hepatosplenomegaly with umbilical hernia; Skiagrams of the skull, chest, both hands and lumbosacral spine revealed enlarged skull with j- shaped sella-turcica, proximal bulleting of metacarpals, spatulated ribs and anterior beaking of lumbar vertebrae. Clinical findings, urinary excretion of GAGs and deficiency of alpha-L iduronidase enzyme on enzyme assay confirmed the diagnosis of Hurler syndrome.
Figure 2: B/L massive inguinal hernia with Umbilical hernia

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Child was operated after optimization. Bilateral herniotomy with posterior wall repair was done. Umbilical hernial sac contained omentum which was reduced and anatomical repair of the defect was done. Postoperative period was uneventful.

  Discussion Top

MPS are recessively inherited lysosomal storage disorders. Hunter syndrome (MPS II), an X- linked recessive disease, is due to iduronate-2-sulfatase enzyme deficiency while in Hurler syndrome (MPS I) which has autosomal recessive inheritance, the enzyme alpha-L iduronidase is deficient.

This leads to abnormal accumulation of Dermatan sulphate and heparan sulphate (components of connective tissue) in skin, brain, heart, bone, liver, spleen, blood vessels and tracheo-bronchial airways leading to the different clinical manifestations of the disease[5]. Coarse facies, thick skin, mental retardation, organomegaly, growth abnormalities, skeletal dysplasia, joint stiffness, hernia, cardiac manifestations and respiratory symptoms occur in various combinations in these patients[6]. In Hurler’s syndrome, corneal clouding and retinal degeneration can additionally occur[7]. Deposition of GAGs (acid mucopolysaccharides) in tissues causes cellular enlargement and disruption of structure and function of the involved tissues[5].

Classical clinical features, radiological features, detecting GAGs in urine and enzyme assay of deficient enzyme hold the key to diagnosis[8].

Initial report from the Hunter Outcome Survey in 2008 recognized otitis media (median age - 1.7 years) and hernia (seen in 75% of cases, median age - 1.8 years) to be the earliest and coarse facies (seen in 95% cases) to be the most common manifestation of Hunter syndrome[4]. Our patient with Hunter syndrome also had similar manifestation.

MPS l Registry as of August 2013 had the data of 1046 patients and most common symptom observed was coarse facies and corneal clouding. Hernia was seen in around 58.9%, 50.5% and 69.9% of the three Hurler phenotypes and it was the earliest occurring symptom in all three phenotypes at median ages of 0.8, 3.2 and 4.6 years of age[3]. It has been suggested that in young patients of hernia, MPS should always be kept in the differential diagnosis[3].

Umbilical and Inguinal hernias are frequent in MPS due to ineffective tissue support of the anterior abdominal wall compounded by abdominal protuberance from hepato- splenomegaly and chronic respiratory symptoms. So, multiple sites are prone to hernia due to inherent tissue weakening. If appropriate methods for tissue strengthening or repair are not adopted at the time of surgery, doing simple herniotomy will leave the weakness in the abdominal wall as such and will lead to recurrences. So, proper repair of the abdominal wall is a must.

As early as 1967, Coran et al observed the high incidence of recurrence following herniotomy alone in cases of hernia with MPS and recommended formal herniorrhaphy in such cases[2].

Several other investigators have observed recurrence of hernia and hernia at multiple sites in MPS patients[2],[9],[10].

Anaesthesia during surgery has its own concerns due to recurrent respiratory tract infection, risks of bronchospasm, generalised infiltration and thickening of soft tissues, large tongue with or without tonsillar hypertrophy, narrowed nasal airway, short neck and narrowed and flattened trachea[11],[12].

Also, on several occasions hernia is not clinically evident on the opposite side as the sac is very small and can be detected by the silk sign by an expert clinician. In cases of MPS, if any doubt exists regarding the presence of inguinal hernia on the contra-lateral side, it is wise to explore it and repair all the hernia defects at one time avoiding repeated anaesthetic exposure in such high risk patients.

  Conclusion Top

Occurrence of hernia at a young age and associated coarse facies should raise a suspicion of MPS. MPS presents with significant weakening of the abdominal wall and so associated hernia are usually large necessitating abdominal wall repair procedures at the time of hernia surgery. Due to the possibility of multiple hernias and high risk of anaesthesia, proper examination and repair of all hernias at the same time is important.

  References Top

Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004; 144:S27-34.  Back to cited text no. 1
Coran AG, Eraklis AJ. Inguinal hernia in the Hurler-Hunter syndrome. Surgery. 1967; 61:302-4.  Back to cited text no. 2
Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S. The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med. 2014; 16:759-65.  Back to cited text no. 3
Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J; HOS Investigators. Initial report from the Hunter Outcome Survey. Genet Med. 2008 ; 10:508-16.  Back to cited text no. 4
Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, et al. Enzyme eplacement therapy in mucopolysaccharidosis I. N Engl J Med 2001; 344:182-8.  Back to cited text no. 5
Wraith JE, Jones S. Mucopolysaccharidosis type I. Pediatr Endocrinol Rev. 2014; 12:102-6.  Back to cited text no. 6
Sugar J. Corneal manifestations of the systemic mucopolysaccharidoses. Ann Ophthalmol. 1979; 11:531-5.  Back to cited text no. 7
Kleigman RM, Muenzer JL. Mucopolysaccharidosis. In: Behrman RE, Kleigman RM, Jenson HB editors. Philadelphia, Saunders Elsevier: Nelson’s Textbook of Paediatrics; 2004. p. 482-6.  Back to cited text no. 8
Rayamajhi A, Pokharel PJ, Chapagain R, Rayamajhi AK. Mucopolysaccharidosis type II with inguinal hernia. J Nepal Health Res Counc. 2013; 11:293-5.  Back to cited text no. 9
Hulsebos RG, Zeebregts CJ, de Langen ZJ. Perforation of a congenital umbilical hernia in a patient with Hurler’s syndrome. J Pediatr Surg. 2004; 39:1426-7.  Back to cited text no. 10
Belani KG, Krivit W, Carpenter BLM, Braunlin E, Buckley JJ, Liao JC, et al. Children with mucopolysaccharidoses: Perioperative care, moridity, mortality and new findings. J Pediatr Surg 1993; 28:403-10.  Back to cited text no. 11
Baum VC, O’flaherly JE editors. In: Anaesthesia for Genetic, Metabolic and Dysmorphic Syndromes of Childhood. New York: Lippincot William & Wilkins; 1999. p. 145-7.  Back to cited text no. 12


  [Figure 1], [Figure 2]


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