Saudi Journal of Gastroenterology
Home About us Instructions Submission Subscribe Advertise Contact Login    Print this page  Email this page Small font sizeDefault font sizeIncrease font size 
Users Online: 2635 


 
CASE REPORT Table of Contents   
Year : 2001  |  Volume : 7  |  Issue : 3  |  Page : 119-121
Ulcerative colitis and chronic granulomatous disease: A case report and review of the literature


Department of Pediatrics, College of Medicine and King Khalid University Hospital, Riyadh, Saudi Arabia

Click here for correspondence address and email

Date of Submission22-Jan-2001
Date of Acceptance23-Apr-2001
 

How to cite this article:
Al-Mobaireek KF. Ulcerative colitis and chronic granulomatous disease: A case report and review of the literature. Saudi J Gastroenterol 2001;7:119-21

How to cite this URL:
Al-Mobaireek KF. Ulcerative colitis and chronic granulomatous disease: A case report and review of the literature. Saudi J Gastroenterol [serial online] 2001 [cited 2020 Nov 29];7:119-21. Available from: https://www.saudijgastro.com/text.asp?2001/7/3/119/33424


Chronic graucomatous disease (CGD) is a genetically-determined primary immunodeficiency disease in which phagocytic cells are unable to reduce molecular oxygen and create the reactive oxygen metabolites and thus are unable to kill ingested catalase-positive microorganisms [1] . The ingested organisms will remain viable within the phagocytes where they are protected from antibiotics. This results in marked inflammation, abscess and granuloma formation. The disease is usually inherited as x-linked recessive. A less common mode of inheritance is by autosomal recessive pattern. In this form of inheritance the disease is less severe and tends to occur at an older age [2] . Affected children usually present with infections of skin, lungs, bones, nasal sinuses and middle ear. Lesions of the gastrointestinal tract are common in x-linked recessive form of CGD. These lesions include gastric and esophageal outlet obstruction. Inflammatory bowel disease is less common in CGD. The involvement of both the small and the large bowel, the findings of luminal narrowing and the presence of granuloma can make this clinical entity indistinguishable from Crohn disease [3],[4],[5],[6],[7] . Ulcerative colitis complicating CGD however, is rare. Only two cases of CGD associated with ulcerative colitis are documented in the English medical literature [8],[9] . Our case illustrates this form of colitis in a 10-year-old Saudi boy with CGD.


   Case Report Top


A 10-year-old Saudi boy known to have CGD presented with abdominal pain, recurrent headaches, bloody diarrhea, pallor and fatigability for two months. Chronic glaucomatous disease had been diagnosed at the age of five years by flow cytometric analysis which revealed markedly reduced neutrophil respiratory burst when stimulated with both phorbol myristate acetate (PMA) and -opsonized zymosan (OpZ) [10],[11] . He had recurrent skin, lymph nodes and chest infections for which he received several courses of antibiotics. He was on cotrimoxazole (septrin) prophylaxis with no other antibiotics given in the last six months prior to his presentation. At the age of eight years, he developed right kidney hydronephrosis due to right ureteric obstruction by granuloma formation. Nephrostomy followed by ureterolysis were done and the hydronephrosis improved. Two of his three brothers were also diagnosed to have CGD but none of his four sisters. On examination his height and weight were below the 5 th percentile. He was pale with generalized lymphadenopathy and mild finger clubbing. Abdominal examination revealed generalized tenderness with no palpable masses. Rectal examination revealed bloody stool. No anal fissure or hemorrhoids were seen. Hemoglobin was 62 g/l. Platelets and coagulation studies were normal. Several stool cultures were negative.  Clostridium difficile Scientific Name Search in was not detected in the stool. Colonoscopy revealed erythematous and friable mucosa with multiple ulcers and areas of bleeding involving the whole mucosa of the colon and rectum. Biopsies from lower sigmoid and colon [Figure - 1]A and B showed prominent infiltrate of the lamina propria by lymphocytes and plasma cells intermixed with eosinophils and neutrophils, there was goblet cells depletion, occasional cryptitis and early abscess formation. No granulomata were seen. The inflammation was diffuse and largely confined to the mucosa. These findings are consistent with ulcerative colitis. The child received several blood transfusions and was started on sulphasalasine, prednisolone enemas, folic acid and iron supplementation. Despite this he continued to have abdominal pain, anorexia, loss of weight, bloody diarrhea. Systemic steroids were then added. His weight and diarrhea and hemoglobin improved markedly. Unfortunately his symptoms relapsed after tapering the systemic steroids over a period of six weeks. This necessitated a second course of systemic steroids with slow tapering over a period of six months. He responded very well and remained thereafter reasonably controlled on sulphasalasine therapy over a one-year period.


   Discussion Top


Manifestations of CGD include recurrent infections of the lungs, lymph nodes and skin. Bones, liver and gastrointestinal tract are less commonly involved. The great majority of the infective episodes are caused by S aureus followed by aspergillus [2],[12] . Obstructive lesions of the gastrointestinal and urinary tract occur in CGD especially in the x-linked form. Our case is most likely the x-linked form of CGD as two of his brothers but none of his four sisters are affected. He developed right kidney hydronephrosis secondary to ureteric obstruction by granuloma formation. Several histological reports of enteritis and colitis in CGD describe granulomatous lesions resembling Crohn disease [3],[4],[5],[6],[7] . Only two cases of colitis and CGD were reported to have a histological appearance similar to ulcerative colitis [8],[9] . Fisher et al [8] reported a 10-year old with ulcerative colitis complicating CGD. Sloan et al [9] reported a similar lesion in a 20-year old lady with CGD. In our case, the inflammation was diffuse and restricted to the mucosa involving the whole colon and rectum, and-no granulomata were seen. This description is suggestive of ulcerative colitis rather than Crohn disease. Sloan et al [9] described the presence of light pigmented macrophages in the lamina propria adjacent to the muscularis mucosa and the increased amount of lymphoid tissue in that region as a distinctive feature of colitis in CGD. These light pigmented macrophages are also present in various organs in CGD including lungs, liver and lymph nodes. By electron microscopy these cells contain lipofuchsin granules throughout the cytoplasm together with lipid droplets and fragmented bacteria within the cytoplasm of the degranulated polymorphs. Some of the bacteria appeared viable due to the inability of the phagocyte to kill the ingested microorganism. They concluded that the presence of light brown pigmented macrophages in colonic mucosa adjacent to the muscularis mucosa in a young patient should raise the possibility of a diagnosis of CGD affecting the bowel especially if there is a history of recurrent infections.

The etiology of colitis in CGD is uncertain. However, the bacteria cell wall products may act as stimulatory factor in inflammatory bowel disease. In CGD the persistence of viable bacteria within the phagocyte in the colonic mucosa may cause excessive stimulation of the inflammatory process and subsequent mucosa damage [9],[13]. Colitis associated with CGD can be intractable to treatment. In the two cases of ulcerative like colitis previously reported total colectomy was necessary [8],[9]. One 12-year old boy with CGD and colitis resembling Crohn's disease responded to treatment with cyclosporine after failure to control the colitis with high doses of corticosteroids [7]. our case responded to treatment with prolonged course of corticosteroid. In conclusion, we report a case of a rare association between CGD in colitis resembling ulcerative colitis. This colitis was responsive to treatment with corticosteroids.


   Acknowledgement Top


The author likes to thank Prof. Mohammed Al­Sohaibani for his assistance in the preparation and comments on the pathology photographs.

 
   References Top

1.Tauber Al, Borregaard N, Simon E, Wright J: Chronic granulomatous disease: A syndrome of phagocyte oxidase deficiencies. Medicine 1963 (62): 286.  Back to cited text no. 1    
2.Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Cumutte J, Gallin JI, Malech HL, Holland SM, Ochs H, Quie P, Buckley RH, Foster CB, Chanock SJ, Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine 2000 (79): 155-69.  Back to cited text no. 2    
3.Ament ME, Ochs HD. Gastrointestinal manifestations of chronic granulomatous disease. N Engl J Med, 1973 (288): 382-7.  Back to cited text no. 3    
4.Yogman MW, Touloukian RJ, Gallagher R. Intestinal granulomatosis in chronic granulomatous disease. N Engl J Med, 1974 (289): 228.  Back to cited text no. 4    
5.Werlin SL, Chusid MJ, Caya J, Oechler HW. Colitis in chronic granulomatous disease. Gastroenterology, 1982 (82): 328-31.  Back to cited text no. 5    
6.Isaacs D, Wright VM, Shaw DG, Raafat F, Walker-Smith JA. Chronic granulomatous disease mimicking Crohn's Disease. J Pediatr gastroenterol Nutr.1985 (4): 498-501. Chronic granulomatous disease  Back to cited text no. 6    
7.Rosh JR, Tang HB, Mayer L, Groisman G, Abraham SK, Prince A. Treatment of intractable gastrointestinal manifestations of Chronic granulomatous disease with cyclosporine. J Pediatr. 1995 (126): 143-5.  Back to cited text no. 7    
8.Fisher JE; Khan AR; Heitlinger L; Allen JE; Afshani E: Chronic granulomatous disease of childhood with acute ulcerative colitis. Pediatr Pathol 1987 (7): 91-6.  Back to cited text no. 8    
9.Sloan JM; Cameron CH; Maxwell RJ, McCluskey DR, Collins JS. Colitis complicating chronic granulomatous disease. A clinicopathological case report. Gut 1996 (38): 619-22.  Back to cited text no. 9    
10.Quie PG, Mills EL: Bactericidal and metabolic function of polymorphonuclear leukocytes. Pediatrics 64(Supl.) 1979: 719-21.  Back to cited text no. 10    
11.Chusid MJ, Shea ML, Sarff LD. Determination of posttransfusion granulocyte kinetics by chemiluminescence in chronic granulomatous disease. J Lab Clin Med 1980 (95):168-74  Back to cited text no. 11  [PUBMED]  
12.Gallin JI. Recent advances in chronic glaucomatous disease. Ann Intern Med, 1983 (99): 657-74.  Back to cited text no. 12    
13.McDermott RP. Inflammatory bowel disease. Current opinion in Gastroenterology 1994 (10): 355-7.  Back to cited text no. 13    

Top
Correspondence Address:
Khalid F Al-Mobaireek
Department of Pediatrics, College of Medicine and King Khalid University Hospital, P. 0. Box 2925, Riyadh 11461
Saudi Arabia
Login to access the Email id

Source of Support: None, Conflict of Interest: None


PMID: 19861781

Rights and PermissionsRights and Permissions


    Figures

  [Figure - 1]



 

Top
 
  Search
 
  
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Email Alert *
    Add to My List *
* Registration required (free)  


    Case Report
    Discussion
    Acknowledgement
    References
    Article Figures

 Article Access Statistics
    Viewed4288    
    Printed96    
    Emailed1    
    PDF Downloaded1    
    Comments [Add]    

Recommend this journal