Case report of a pair of siblings with cryptogenic multifocal ulcerating stenosing enteritis

Abstract

Rationale:The rare disease cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) is characterized by multiple and recurring small intestinal ulcers with stenosis of unknown causes. In clinic, it is difficult to be differentiated from the inflammatory bowel disease, especially the Crohn disease.Patient concerns:Here we report a pair of siblings who suffered from long-time anemia and abdominal pain and misdiagnosed with inflammatory bowel disease (IBD) for many years.Diagnoses:They were finally diagnosed with CMUSE with intestinal obstruction.Interventions and outcomes:They both accepted surgical treatment and recovered well. No abdominal symptom appeared in the two-year follow-up.Lessons:This report underscores that CMUSE patients may have a long course of suffering from anemia and abdominal pain, normal inflammatory markers and normal colon, and sometimes have a family history of CMUSE. Surgery of segmental bowel resection is a good way to solve intractable intestinal obstruction in CMUSE.

Case report of cryptogenic multifocal ulcerous stenosing enteritis (CMUSE): a rare disease may contribute to endoscopy-capsule retention in the small intestine

“…Diagnosis of this disease remains difficult due to the lack of specific characteristics and the lesion mainly located in the small bowel. Differential diagnosis of CMUSE includes Crohn’s disease (CD) [14, 15], NSAIDs-induced enteropathy [16], tuberculous enteritis and other chronic infections of the small intestine [17–19].…”

“…After reviewing pieces of literature of CMUSE and some cases in China, 22 patients with CMUSE were performed CE and the presence of capsule retention is also clearly described. Surprisingly, 13 patients underwent capsule retention [3, 5, 10, 14, 17, 23–30]. It means that nearly 60% of patients with CMUSE who receives CE will contribute to retention in the small intestine.…”

A case report of intestinal obstruction caused by cryptogenic multifocal ulcerous stenosing enteritis

“…Yu Zhang et al [ 5 ] summarized the diagnostic criteria for CMUSE: (1) Medical history: long course; persistent and occult blood loss from the gastrointestinal tract with severe anemia. (2) Clinical features: chronic and relapsing subileus episodes; chronic iron-deficiency anemia with fatigue, edema, or growth retardation, rarely with diarrhea; with normal inflammatory makers or other biological signs of systemic inflammation; normal colon and stomach; no extrointestinal manifestations.…”

A male Korean who was diagnosed with chronic enteropathy associated withSLCO2A1(CEAS): case report with literature review

“… 5 8 Zhang et al had discovered PLA2G4A gene mutations in a pair of Chinese siblings who were both diagnosed with CMUSE. 9 Unfortunately, no patients with CMUSE from Korea and European countries have received a test for SLCO2A1 gene mutation.…”