Early onset inflammatory bowel disease – What the radiologist needs to know

Barber, Joy L.; Shah, Neil; Watson, Tom

doi:10.1016/j.ejrad.2018.07.001

Cited by 9 publications

(6 citation statements)

References 60 publications

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“…Imaging studies of VEOIBD were relatively rare. Hepatosplenomegaly, mildly dilated large and small bowel, significant bowel wall thickening under ultrasonography were reported in neonatal IBD [28]. In our patient, abdominal X-ray revealed stiffness in the intestines and decreased intestinal gas.…”

Section: Discussionsupporting

confidence: 53%

Phenotype and genotype characteristics of neonatal onset inflammatory bowel disease with combined immunodeficiency of TTC7A deficiency in mainland China

Chen¹,

Chen²,

Guo³

et al. 2021

Preprint

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Objective: To explore the characteristics of genotype and phenotype of neonatal onset inflammatory bowel disease with combined immunodeficiency caused by a novel TTC7A mutant. Methods: We summarized the clinical manifestations, imagings, endoscopic and histological findings, biochemical analyses,whole exon sequencing(WES), in silico and intervention of the patient. Results: The boy showed severe diarrhea, malnutrition, electrolyte disturbance, dehydration and recurrent infections after birth. X-ray and ultrasonic images displayed no specific changes. Endoscopic and histological findings showed chronic inflammation. Immune functions indicated combined immunodeficiency. WES identified compound heterozygote TTC7A mutations c.2355+4A>G/c.643G>T in the infant. No abnormal splicing sequence by c.2355+4A>G mutation was found in TTC7A expression analysis, but the mRNA expression decreased. There was no improvement after treatment with methylprednisolone and leflunomide. The infant died when he was given up at 5 months 19 days old. Conclusion: The compound heterozygote mutations (c.2355+4A>G, c.643G>T) in TTC7A gene were firstly described and confirmed. Our report expands the phenotypic spectrum of TTC7A mutaions and genotypic spectrum of very early onset inflammatory bowel disease with combined immunodeficiency.

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Section: Discussionsupporting

confidence: 53%

Phenotype and genotype characteristics of neonatal onset inflammatory bowel disease with combined immunodeficiency of TTC7A deficiency in mainland China

Chen¹,

Chen²,

Guo³

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…In this study, the SBFT sensitivity and specificity were 76% and 67%, respectively, whereas MRI demonstrated greater sensitivity and specificity of 83% and 95%, respectively [22]. Fluoroscopy SBFT, however, does remain an option if problem solving is necessary, such as cutaneous fistula evaluation [21]. Fluoroscopy SBFT may also serve as an alternative to MRI and CT to avoid sedation, particularly in younger children.…”

Section: Discussion Of Procedures By Variantmentioning

confidence: 66%

“…An institutional study confirmed this decline in which the average number of contrast enema per Crohn disease patients per year dropped from 0.05 in 2001 to 0.01 in 2010 [20]. Fluoroscopy contrast enema, however, may remain an option if selected problem solving is necessary, such as stricture assessment during contrast injection [21].…”

Section: Discussion Of Procedures By Variantmentioning

confidence: 94%

“…Ultrasound (US) abdomen can be used for imaging Crohn disease during initial diagnosis. US may be a suitable alternative for evaluation of the terminal ileum in younger children who would otherwise require sedation for MRE or CTE examinations [21]. Sonographic technique requires a systematic assessment of the entire bowel including terminal ileum, colon, and more proximal small bowel.…”

Section: Discussion Of Procedures By Variantmentioning

confidence: 99%

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ACR Appropriateness Criteria® Crohn Disease-Child

Moore

Gee

Iyer

et al. 2022

Journal of the American College of Radiology

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“…Imaging studies of VEOIBD are relatively rare. Hepatosplenomegaly, significant intestinal wall thickening, and mildly dilated bowels are reported in neonatal IBD ( Barber et al, 2018 ). In our proband, abdominal radiography revealed stiffness of the intestines and decreased intestinal gas volume.…”

Section: Discussionmentioning

confidence: 99%

Clinical Characteristics, In Silico Analysis, and Intervention of Neonatal-Onset Inflammatory Bowel Disease With Combined Immunodeficiency Caused by Novel TTC7A Variants

Chen

Guo

et al. 2022

Front. Genet.

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We aimed to explore the genotypic and phenotypic characteristics of neonatal-onset inflammatory bowel disease (IBD) with combined immunodeficiency due to TTC7A mutation. We examined the clinical manifestations, imaging results, endoscopic and histological findings, interventions, and prognosis of a proband with neonatal-onset IBD and performed biochemical analyses, whole-exome sequencing (WES), and in silico analysis. Our proband developed severe early-onset diarrhea, malnutrition, electrolyte imbalance, dehydration, and recurrent infections after birth. Radiographic and ultrasonic images showed no specific manifestations. Endoscopic and histological examination revealed chronic inflammation. Immune function examination indicated immunodeficiency. WES identified compound heterozygous TTC7A mutations (c.2355+4A>G, c.643G>T) in the proband. In the expression analysis, no abnormal splicing in the TTC7A sequence was observed due to the c.2355+4A>G mutation; however, the mRNA expression was reduced. The proband’s condition did not improve after treatment with methylprednisolone or leflunomide. The proband died when treatment was stopped at the age of 5 months and 19 days. Compound heterozygous mutations (c.2355+4A>G, c.643G>T) in the TTC7A gene are described and verified for the first time. Our report expands the phenotypic spectrum of TTC7A mutations and the genotypic spectrum of very early-onset IBD with combined immunodeficiency.

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Early onset inflammatory bowel disease – What the radiologist needs to know

Cited by 9 publications

References 60 publications

Phenotype and genotype characteristics of neonatal onset inflammatory bowel disease with combined immunodeficiency of TTC7A deficiency in mainland China

Phenotype and genotype characteristics of neonatal onset inflammatory bowel disease with combined immunodeficiency of TTC7A deficiency in mainland China

ACR Appropriateness Criteria® Crohn Disease-Child

Clinical Characteristics, In Silico Analysis, and Intervention of Neonatal-Onset Inflammatory Bowel Disease With Combined Immunodeficiency Caused by Novel TTC7A Variants

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