Autoinflammatory diseases in childhood, part 1: monogenic syndromes

“…Less specific but frequent manifestations are fatigue and symptoms of inflammation in different regions of the body, such as the musculoskeletal system, gastrointestinal tract, and serosal membranes. Abdominal pain is a consistent feature which can be related to peritonitis or inflammation of the abdominal wall muscles [ 12 , 13 ]. Inflammation of the bowel wall with ulceration has been reported in the literature on endoscopic evaluation [ 12 , 13 ].…”

Section: Genetic Classification With Clinical and Imaging Findingsmentioning

confidence: 99%

“…Abdominal pain is a consistent feature which can be related to peritonitis or inflammation of the abdominal wall muscles [ 12 , 13 ]. Inflammation of the bowel wall with ulceration has been reported in the literature on endoscopic evaluation [ 12 , 13 ]. Arthralgia and myalgia are common.…”

Section: Genetic Classification With Clinical and Imaging Findingsmentioning

confidence: 99%

“…The author argues that TRAPS myalgia is caused by fasciitis rather by myositis. CT and MRI of the abdomen may show circumferential wall thickening of the small bowel with surrounding inflammatory changes and lymphadenopathy [ 12 ].…”

Section: Genetic Classification With Clinical and Imaging Findingsmentioning

confidence: 99%

“…Radiographs of the painful joint are usually negative, or may reveal non-destructive polyarthritis or oligoarthritis affecting large joints [ 12 , 27 ].…”

Section: Genetic Classification With Clinical and Imaging Findingsmentioning

confidence: 99%

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Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

Alsharief

Laxer

Wang³

et al. 2020

Insights Imaging

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Purpose 1. To review the contemporary literature and present a list of the imaging findings for patients with autoinflammatory diseases from our hospital. All these patients are found to have a genetic mutation that is responsible for their disease. 2. To present follow-up imaging findings, when available, and correlate those with symptoms and type of treatment administered in approximately 40 patients with autoinflammatory diseases of a single tertiary pediatric health care center including familial Mediterranean fever, Cryopyrin-associated autoinflammatory syndrome, PAPA (pyogenic arthritis, pyoderma gangrenousum, and acne) syndrome, and more. These findings are related to disease progression, treatment response, or treatment-induced changes. Conclusion Autoinflammatory diseases are relatively rare entities that can affect any system of the body. Given the many nonspecific imaging features, awareness of these diseases and good communication with clinicians aid in reaching an accurate diagnosis.

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Evaluation of acute terminal ileitis in children before and during the COVID‐19 pandemic

Koyuncu,

Bükülmez,

Güngör

et al. 2023

J. pediatr. gastroenterol. nutr.

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ObjectivesThe aim of this study was to examine the clinical features of acute terminal ileitis in children and evaluate its rate before and during the COVID‐19 pandemic.MethodsThis retrospective study was performed in our pediatric emergency department between 2018 and 2022. The records of 5363 patients who required abdominal imaging due to acute abdomen were analyzed, and 143 patients with terminal ileitis were included. The rate and etiological causes were compared during and before the COVID‐19 pandemic.ResultsThe rate of acute terminal ileitis has increased over the years. The fastest increase was in 2021, when the COVID‐19 pandemic was experienced. While 59 (41.2%) patients showed acute nonspecific ileitis, the most common etiologic cause that could be identified was acute gastroenteritis. It was determined that multisystem inflammatory syndrome in children was among the causes of ileitis after the COVID‐19 pandemic and was one of the top three causes.ConclusionsAcute terminal ileitis, which has many etiologies, is one of the rare radiological findings in acute abdominal pain. Examination and laboratory findings are not specific. Guidelines are needed for the investigation of the underlying etiology of acute terminal ileitis in children. The incidence of acute terminal ileitis is increasing, and the increase has been found to be faster after the COVID‐19 pandemic.

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Autoinflammatory diseases in childhood, part 1: monogenic syndromes

Cited by 25 publications

References 60 publications

Recomendaciones para el diagnóstico y tratamiento de la urticaria en pediatría Comité Nacional de Alergia

Recomendaciones para el diagnóstico y tratamiento de la urticaria en pediatría Comité Nacional de Alergia

Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

Evaluation of acute terminal ileitis in children before and during the COVID‐19 pandemic

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