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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:BackgroundBeing a rare disease, cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) is easily misdiagnosed as small bowel Crohn's disease (SBCD).AimsThis study was aimed to compare clinical features of CMUSE to SBCD.MethodsFourteen patients with CMUSE and 61 patients with SBCD were retrospectively analyzed.ResultsHematochezia 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).ConclusionsGastrointestinal symptoms, erythrocyte sedimentation rate levels, radiologic, endoscopic and pathologic features help to distinguish CMUSE from SBCD.

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Neuronal intranuclear inclusion disease misdiagnosed as Parkinson's disease: a case report.

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A rare case report of multifocal para-aortic and para-vesical paragangliomas.

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Ancient transcriptional regulators can easily evolve new pair-wise cooperativity

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Molecular characteristics of multifocal invasive mucinous adenocarcinoma of the lung: Report of a rare case.

Project description:Invasive mucinous adenocarcinoma (IMA) is an uncommon entity in the lung, with a poor prognosis. Multifocal IMA of the lung is even more unusual, and there is little experience with effective treatments. Herein, we present a case of multifocal IMA diagnosed in a 36 year-old man by video-assisted thoracoscopic surgery. A right middle lobe and a nodule in the right upper lobe were resected, as were mediastinal lymph nodes, leaving behind an autonomous right lower lobe nodule. To explore the feasibility of molecular treatment, next-generation sequencing of genetic mutations was performed after four cycles of chemotherapy (pemetrexed + cisplatin). Ultimately, a KIAA1468-RET fusion gene was detected at a disproportionate level (~67.3%), indicating that targeted therapy may be efficacious in treating this disease.

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Heterotopic pregnancy with natural conception; a rare event that is still being misdiagnosed: a case report.

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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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Left main coronary artery vasospasm: A case report of misdiagnosed severe coronary artery disease.

Project description:Introduction and importanceLeft main coronary artery (LMCA) vasospasm is rare and can cause demand-supply mismatch that can mimic coronary artery disease (CAD). This could lead to misdiagnosis and inappropriate referral for surgical intervention.Case presentationA 55-year-old woman with no cardiac risk factors presented with anginal chest pain. Vital signs were stable and physical exam was unremarkable. Chest x-ray was normal and electrocardiography (ECG) revealed sinus bradycardia with nonspecific ST-segment and T-wave changes in the inferolateral leads present on prior ECGs. Echocardiography revealed a left ventricular ejection fraction of 60-65% without regional wall motion abnormalities and cardiac troponin was within normal limits. Nuclear stress test was unsuccessful due to severe reaction to regadenoson. Subsequent invasive coronary angiography revealed an isolated 70% stenosis of the LMCA. Patient was referred for surgery, however, coronary computed tomography angiography (CCTA) prior to surgery unmasked spasm and prevented unnecessary surgery.Clinical discussionCoronary spasm is diagnosed clinically based on typical symptoms, transient ECG changes, and a negative stress test with no regional wall motion abnormalities on echocardiography. During episodes of spasm, coronary angiography would reveal an area of stenosis in the affected coronary segment. This could lead to a misdiagnosis of CAD and, in cases of LMCA stenosis, inappropriate referral for surgical intervention.ConclusionLMCA spasm is rare but can mimic CAD leading to misdiagnosis and unnecessary surgery. Physicians should have a high suspicion for spasm especially in patients with anginal chest pain who lack CAD risk factors. CCTA can unmask spasm and prevent unnecessary interventions.

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