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. 2007 Dec 8:1:176.
doi: 10.1186/1752-1947-1-176.

Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature

George Kouklakis  1 , Eleni I Efremidou, Michael S Papageorgiou, Evdoxia Pavlidou, Konstantinos J Manolas, Nikolaos Liratzopoulos
Affiliations

Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature

George Kouklakis et al. J Med Case Rep. .

Abstract

Introduction: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive inherited disorder consisting of a triad of albinism, increased bleeding tendency secondary to platelet dysfunction, and systemic complications associated with ceroid depositions within the reticuloendothelial system. HPS has been associated with gastrointestinal (GI) complications related to chronic granulomatous colitis with pathologic features suggestive of Crohn's disease. This colitis can be severe and has been reported to be poorly responsive to medical therapies including antibiotics, corticosteroids, sulfasalazine, mesalamine and azathioprine.

Case presentation: We report a patient with HPS which was complicated by inflammatory bowel disease with clinical and pathologic features of Crohn's disease, refractory to antibiotics, corticosteroids and azathioprine. A trial of infliximab was attempted and repeated infusions produced a complete response.

Conclusion: The occurrence of ileitis and perianal lesions and also the histopathological findings in our case suggest that HPS and Crohn's disease may truly be associated. Given this similarity and the failure of the standard medical therapy of corticosteroids and azathioprine, our patient received infliximab with marked clinical improvement.

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Figures

Figure 1
Figure 1
Colonoscopy of the sigmoid colon: colitis with edema, erythema and multiple ulcers.
Figure 2
Figure 2
Colonoscopy of the terminal ileum: ileitis with multiple aphthoid ulcers.
Figure 3
Figure 3
Improvement of ileitis, healing of ulcers (after 8 wk of the initial dose of infliximab).
Figure 4
Figure 4
Improvement of edema and healing of linear ulcers in sigmoid colon (8 weeks after the initial dose of infliximab).
See this image and copyright information in PMC

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