Crohn's disease in a child with Down syndrome

Yamamoto, Masaki; Abo, Wataru; Hori, Tsukasa; Nakada, Toshimasa; Tachibana, Naoki; Hatada, Yasumasa; Kaimori, Mitsuomi

doi:10.1046/j.1442-200x.2002.01598.x

Cited by 4 publications

(4 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Ten articles reported cases of IBD in subjects with DS, adding up to a total of 18 cases, including our cases (12 with CD, 5 with UC, and 1 case reported as IBD) ( 34 – 43 ). Five (28%) were pediatric cases ( 36 , 38 , 39 , 43 ). The three observational studies indicated a prevalence of IBD in cohorts of adults with DS ranging from 0.2 to 1.57% ( 35 , 40 , 41 ).…”

Section: Resultsmentioning

confidence: 99%

“…Detailed clinical descriptions were available for nine cases only ( 36 – 39 , 42 , 43 ). Table 4 shows the clinical characteristics of the reported cases (including the case presented by our group).…”

Section: Resultsmentioning

confidence: 99%

“…Ten articles reported cases of IBD in subjects with DS, adding up to a total of 18 cases, including our cases (12 with CD, 5 with UC, and 1 case reported as IBD) (34)(35)(36)(37)(38)(39)(40)(41)(42)(43). Five (28%) were pediatric cases (36,38,39,43).…”

Section: Clinical Features and Prevalence Of Ibd In Down Syndromementioning

confidence: 94%

See 2 more Smart Citations

The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review

et al. 2021

View full text Add to dashboard Cite

Background and Aims: Inflammatory bowel disease (IBD) is a typical polygenic disorder and less frequently shows a monogenic origin. Furthermore, IBD can originate in the context of specific genetic syndromes associated with a risk of autoimmune disorders. We aimed to systematically evaluate the prevalence of IBD in specific genetic syndromes and to review the clinical characteristics of the published cases.Methods: According to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, studies describing patients with IBD and a genetic syndrome and/or studies indicating the prevalence or incidence of IBD in subjects with a genetic syndrome were included.Results: Forty-six studies describing a total of 67 cases of IBD in six genetic syndromes and two personally assessed unpublished cases were included in the review. The majority of cases were associated with Turner syndrome (TS) (38 cases), Down syndrome (DS) (18 cases) and neurofibromatosis type 1 (NF1) (8 cases). Sporadic cases were described in DiGeorge syndrome (2), Kabuki syndrome (2), and Williams syndrome (1). The prevalence of IBD ranged from 0.67 to 4% in TS and from 0.2 to 1.57% in DS. The incidence of IBD was increased in TS and DS compared to the general population. Eight cases of IBD in TS had a severe/lethal course, many of which described before the year 2000. Two IBD cases in DS were particularly severe.Conclusion: Evidence of a greater prevalence of IBD is accumulating in TS, DS, and NF1. Management of IBD in patients with these genetic conditions should consider the presence of comorbidities and possible drug toxicities.Systematic Review Registration: PROSPERO, identifier: CRD42021249820

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review

et al. 2021

View full text Add to dashboard Cite

show abstract

“…In addition to other congenital defects [ 7 ], individuals with DS are also more likely to have structural and functional disorders of the gastrointestinal tract [ 8 ]. Associations between CD and DS have been reported, though very rarely [ 9 , 10 , 11 , 12 , 13 ]. In our search of the literature, we did not find any reported case of DS with pulmonary CD to date.…”

Section: Introductionmentioning

confidence: 99%

Pulmonary Crohn's Disease in Down Syndrome: A Link or Linkage Problem

Thaver

Beg

2016

Case Rep Gastroenterol

View full text Add to dashboard Cite

Crohn’s disease (CD) is an autoimmune inflammatory disorder that primarily affects the gastrointestinal tract. It may have pulmonary involvement, which has been rarely reported in pediatric patients. Down syndrome (DS) has been associated with increased frequency of autoimmune diseases. However, associations between CD and DS have been rarely reported. We present the case of a 5-year-old girl with known DS and a history of chronic intermittent abdominal pain who presented with persistent pneumonia. Her workup included a chest computed tomography (CT) scan that showed multiple noncalcified pulmonary nodules. An extensive infectious workup was done that was negative. CT-guided needle biopsy of the lung nodules showed necrotizing granulomas. This raised concern for primary CD with extraintestinal pulmonary manifestation. An esophagogastroduodenoscopy and colonoscopy were performed, and colon biopsies showed scattered epithelioid granulomas. Based on this information, there was consensus that her lung nodules were secondary to CD. She was started on standard therapy for CD, and her abdominal and respiratory symptoms gradually improved. However, she continues to have mild residual lung calcification and fibrosis. To our knowledge, this is the first reported case of pulmonary CD in a child with DS. The natural history of pulmonary CD in the pediatric population is not very well studied. Furthermore, since DS has been well known to be associated with increased frequency of malignancies and autoimmune conditions due to immune dysregulation, it is difficult to predict the severity and possible complications in this patient.

show abstract