Abstract:

Objective: To investigate the clinical features, endoscopic manifestations, and genetic characteristics of a child with Wiskott-Aldrich syndrome(WAS) and Crohn′s disease, so as to provide reference for clinical diagnosis. Methods: The clinical manifestations, biological indicators, endoscopic characters, therapy, and follow-up of a child with Crohn′s disease combined with WAS were analyzed retrospectively. And literature was searched from PubMed, Wanfang Data, and CNKI. Results: A 6-year-old boy had recurrent abdominal pain, hematochezia for one month, and had perianal abscess for about half a month. He also had thrombocytopenia since infancy. Complete blood cell count showed moderate anemia (Hb 70 g/L) and decreased platelets (77×10⁹/L). The boy had elevated erythrocyte sedimentation rate (71 mm/h) and fecal calprotectin (>1 800 μg/g). Colonoscopy showed multiple ulcers in colon and the pathological examination revealed chronic inflammation in mucosa of the terminal ileum and colon, some of which were accompanied by microabscess and crypt abscesses. The child was diagnosed with Crohn's disease. A splicing mutation (c.777+3_777+6 del GAGT) was identified in the exon 8 of WAS gene by next-generation sequencing. Consequently, the child was definitely diagnosed as WAS combined with Crohn′s disease. There were 9 relevant articles, showing that all 16 patients had childhood-onset inflammatory bowel disease (IBD) (1 day to 14.9 years old), and 10 of them were accompanied by thrombocytopenia. Various treatments, including drugs, surgery, and bone marrow transplantation were required. Seven patients were followed up, and three of them died. Conclusions: For children with IBD, particularly those with very early-onset inflammatory bowel disease, the possibility of monogenic diseases should be taken into account. If a male child with IBD have thrombocytopenia since childhood, the WAS gene should be detected.

Key words: Very early-onset inflammatory bowel disease, Crohn's disease, Wiskott-Aldrich syndrome, Primary immunodificiency, Thrombocytopenia