Chronic granulomatous disease mimicking early-onset Crohn’s disease with cutaneous manifestations

BMC Pediatrics

Marzia Duse¹  Salvatore Cucchiara²  Taulant Melengu¹  Metello Iacobini³  Giovanni Di Nardo²  Adriana Marcheggiano⁴  Fortunata Civitelli²  Giovanni Ragusa¹  Maria Barbato² 

[1] Pediatric Immunology Unit, Sapienza University of Rome, Viale Regina Elena, 324-00161 Rome, Italy;Pediatric Gastroenterology, Endoscopy and Liver Unit Sapienza University of Rome, Rome, Italy;Pediatric Hematology Unit, Sapienza University of Rome, Rome, Italy;Department of Clinical Sciences – Gastroenterology Unit, Sapienza University of Rome, Rome, Italy

关键词: Pigment laden histiocytes;    Nitroblue tetrazolium test;    Skin infection;    Celiac disease;    Serratia marcescens;    Crohn’s disease;    Chronic granulomatous disease;   

Others  :  1138766
DOI  :  10.1186/1471-2431-14-156

 received in 2013-06-09, accepted in 2014-05-29,  发布年份 2014

【 摘 要 】

Background

Chronic granulomatous disease is a rare inherited disorder of the innate immune system. In patients with a clinical history of recurrent or persistent infections, especially infections caused by uncommon species, chronic granulomatous disease should be considered.

Case presentation

We report the case of a 5-year-old boy with a presumptive diagnosis of Crohn’s disease with extraintestinal manifestations. Chronic granulomatous disease was suspected in this case after Serratia marcescens was isolated from a skin ulcer culture. Granulomas were confirmed on histology and chronic granulomatous disease was diagnosed.

Conclusion

This case emphasizes the importance of high clinical suspicion of an alternative diagnosis of immune deficiency in patients with presumed inflammatory bowel disease and opportunistic infections, especially when disease occurs in early life.

【 授权许可】

   
2014 Barbato et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

Figure 3.

Figure 4.

【 参考文献 】

• [1]Stasia MJ, Li XJ: Genetics and immunopahology of chronic granulomatous disease. Semin Immunopathol 2008, 30:209-235.
• [2]Lekstrom-Himes JA, Gallin JI: Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med 2000, 343:1703-1714.
• [3]Friend JC, Hilligoss DM, Marquesen M, Ulrick J, Estwick T, Turner ML, Cowen EW, Anderson V, Holland SM, Malech HL: Skin ulcers and disseminated abscesses are characteristic of Serratia marcescens infection in older patients with chronic granulomatous disease. J Allergy Clin Immunol 2009, 124:164-166.
• [4]Damen GM, van Krieken JH, Hoppenreijs E, van Os E, Tolboom JJ, Warris A, Yntema JB, Nieuwenhuis EE, Escher JC: Overlap, common features, and essential differences in pediatric granulomatous inflammatory bowel disease. J Pediatr Gastroenterol Nutr 2010, 51:690-697.
• [5]Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, Avcin T, de Boer M, Bustamante J, Condino-Neto A, Di Matteo G, He J, Hill HR, Holland SM, Kannengiesser C, Köker MY, Kondratenko I, van Leeuwen K, Malech HL, Marodi L, Nunoi H, Stasia MJ, Ventura AM, Witwer CT, Wolach B, Gallin JI: Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis 2010, 45:246-265.
• [6]van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH, Bernatowska E, Corbeel L, Español T, Fischer A, Kurenko-Deptuch M, Mouy R, Petropoulou T, Roesler J, Seger R, Stasia MJ, Valerius NH, Weening RS, Wolach B, Roos D, Kuijpers TW: Chronic granulomatous disease: the European experience. PLoS One 2009, 4(4):e5234. doi: 10.1371
• [7]Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O’Brien S, Hilligoss DM, Malech HL, Gallin JI, Holland SM: Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 2004, 114:462-468.
• [8]Yu JE, De Ravin SS, Uzel G, Landers C, Targan S, Malech HL, Holland SM, Cao W, Harpaz N, Mayer L, Cunningham-Rundles C: High levels of Crohn’s disease associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease. Clin Immunol 2011, 138:14-22.
• [9]Martire B, Rondelli R, Soresina A, Pignata C, Broccoletti T, Finocchi A, Rossi P, Gattorno M, Rabusin M, Azzari C, Dellepiane RM, Pietrogrande MC, Trizzino A, Di Bartolomeo P, Martino S, Carpino L, Cossu F, Locatelli F, Maccario R, Pierani P, Putti MC, Stabile A, Notarangelo LD, Ugazio AG, Plebani A, De Mattia D, IPINET: Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol 2008, 126(2):155-164.
• [10]Freudenberg F, Wintergerst U, Roesen-Wolff A, Albert MH, Prell C, Strahm B, Koletzko S, Ehl S, Roos D, Tommasini A, Ventura A, Belohradsky BH, Seger R, Roesler J, Güngör T: Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease. J Allergy Clin Immunol 2010, 125:943-946.