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Case report of a pair of siblings with cryptogenic multifocal ulcerating stenosing enteritis: A rare disease easily to be misdiagnosed as Crohn disease.

ABSTRACT: 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.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.They were finally diagnosed with CMUSE with intestinal obstruction.They both accepted surgical treatment and recovered well. No abdominal symptom appeared in the two-year follow-up.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.

SUBMITTER: Zhang Y

PROVIDER: S-EPMC5556202 | biostudies-other | 2017 Aug

REPOSITORIES: biostudies-other

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

Project description:BACKGROUND:Cryptogenic multifocal ulcer stenosing enteritis (CMUSE) is a rare disease characterized by multiple superficial ulcers, stenosis, and obstruction of the small intestine of unknown origin, and the course can recur. CASE PRESENTATION:We encountered a 62-year-old male patient with intestinal obstruction. The patient was admitted to the hospital for surgical treatment due to intestinal obstruction, and was diagnosed with cryptogenic multifocal ulcer stenosis enteritis due to comprehensive surgery and postoperative pathological considerations. CONCLUSION:In the future, we will continue to follow up the patient. The present study aims to remind clinicians of this disease, and reduce the incidence of misdiagnosis.

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Retrospective study of the differential diagnosis between cryptogenic multifocal ulcerous stenosing enteritis and small bowel Crohn's disease.

Project description:BACKGROUND:Being a rare disease, cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) is easily misdiagnosed as small bowel Crohn's disease (SBCD). AIMS:This study was aimed to compare clinical features of CMUSE to SBCD. METHODS:Fourteen patients with CMUSE and 61 patients with SBCD were retrospectively analyzed. RESULTS:Hematochezia was more frequent in CMUSE patients (10, 71.4% vs 23, 37.7%, P?=?0.022), while diarrhea was more common in SBCD patients (23, 37.7% vs 0, 0.0%, P?=?0.015). More patients with CMUSE developed intestinal stenosis than with SBCD (14, 100% vs 37, 60.7%, P?=?0.011). 30 (50.0%) SBCD patients and none CMUSE patients had an elevated erythrocyte sedimentation rate level (P?=?0.001). Extra-enteric findings found by computed tomography enterography were significantly more prevalent in SBCD patients than in CMUSE patients (25,71.4% vs 3,25%, P?=?0.013). Longitudinal ulcers found by endoscopy were more common in SBCD patients (16, 37.2% vs 0, 0.0%, P?=?0.041), while circumferential ulcers were more common in CMUSE patients (6, 54.6% vs 8, 18.6%, P?=?0.041). All ulcers observed in CMUSE patients were within mucosal and submucosal layers, but 8 (44.4%) SBCD patients had deep ulcers that reached beyond submucosal layers (P?=?0.003). Ulcers were located at strictures in 9 (90.0%) CMUSE patients but only in 1 (5.6%) SBCD patient (P?=?0.000). CONCLUSIONS:Gastrointestinal symptoms, erythrocyte sedimentation rate levels, radiologic, endoscopic and pathologic features help to distinguish CMUSE from SBCD.

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Ancient transcriptional regulators can easily evolve new pair-wise cooperativity

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Lessons from a pair of siblings with BPAN.

Project description:Neurodegeneration with brain iron accumulation (NBIA) encompasses a heterogeneous group of inherited progressive neurological diseases. Beta-propeller protein-associated neurodegeneration (BPAN) has been estimated to account for ~7% of all cases of NBIA and has distinctive clinical and brain imaging findings. Heterozygous variants in the WDR45 gene located in Xp11.23 are responsible for BPAN. A clear female predominance supports an X-linked dominant pattern of inheritance with proposed lethality for germline variants in hemizygous males. By whole-exome sequencing, we identified an in-frame deletion in the WDR45 gene (c.161_163delTGG) in the hemizygous state in a 20-year-old man with a history of profound neurocognitive impairment and seizures. His higher functioning 14-year-old sister, also with a history of intellectual disability, was found to carry the same variant in the heterozygous state. Their asymptomatic mother was mosaic for the alteration. From this pair of siblings with BPAN we conclude that: (1) inherited WDR45 variants are possible, albeit rare; (2) hemizygous germline variants in males can be viable, but likely result in a more severe phenotype; (3) for siblings with germline variants, males should be more significantly affected than females; and (4) because gonadal and germline mosaicism are possible and healthy female carriers can be found, parental testing for variants in WDR45 should be considered.

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