Abdominal Manifestations of Cystic Fibrosis in Children: Report of 50 cases
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1 Abdominal Manifestations of Cystic Fibrosis in Children: Report of 50 cases Poster No.: C-2070 Congress: ECR 2013 Type: Scientific Exhibit Authors: B. Iturre Salinas 1, A. Gozalo García 2, N. Martinez Ezquerra 1, D. Gorostiza Laborda 1, I. Terreros Bejo 1, J. Barredo Parra 1 ; 1 Barakaldo/ES, 2 Bilbao/ES Keywords: DOI: Epidemiology, Genetic defects, Outcomes analysis, Ultrasound, Conventional radiography, Pediatric, Pancreas, Abdomen /ecr2013/C-2070 Any information contained in this pdf file is automatically generated from digital material submitted to EPOS by third parties in the form of scientific presentations. References to any names, marks, products, or services of third parties or hypertext links to thirdparty sites or information are provided solely as a convenience to you and do not in any way constitute or imply ECR's endorsement, sponsorship or recommendation of the third party, information, product or service. ECR is not responsible for the content of these pages and does not make any representations regarding the content or accuracy of material in this file. As per copyright regulations, any unauthorised use of the material or parts thereof as well as commercial reproduction or multiple distribution by any traditional or electronically based reproduction/publication method ist strictly prohibited. You agree to defend, indemnify, and hold ECR harmless from and against any and all claims, damages, costs, and expenses, including attorneys' fees, arising from or related to your use of these pages. Please note: Links to movies, ppt slideshows and any other multimedia files are not available in the pdf version of presentations. Page 1 of 27
2 Purpose Introduction Cystic fibrosis (CF) is the most common inherited fatal disease in whites, and it is estimated that the incidence of CF in Spain is one case in every 3500 children born while one in 30 people are carriers of the disease. Inheritance is autosomal recessive and individuals with CF have mutations in the gene encoding the "protein transmembrane conductance regulator of Cystic fibrosis" (CFTR) on the long arm of chromosome 7. There are more than 1500 CFTR mutations, but two thirds of CF cases worldwide are caused by a single mutation: the DF508. The CFTR protein acts as a chloride channel and also controls the regulation of other transport pathways electrolytes. This adjustment is necessary for the functioning of many organs (upper respiratory tract, lung, gastrointestinal tract, pancreas, liver, sweat glands and urogenital tract). Patients with CF produce abnormally thick secretions, which affects multiple organ system. Objectives: 1. To explain the protocol for the diagnosis and follow-up of CF patients used in our hospital 2. To describe abdominal imaging findings on radiographics exams (abdomen plain film, barium enema and ultrasound) Methods and Materials The diagnosis and monitoring protocols in these patients at the Cruces Hospital (Reference Unit of the Autonomous Community of the Basque Country) is as follows: 1. DIAGNOSIS PROTOCOL Page 2 of 27
3 - Since February 2010, in the Basque Country, a screening test is performed in all newborns, which checks for a chemical is called immunoreactive trypsinogen or IRT. It is normally found in small amounts in the body. When the pancreas is stressed before a baby is born, more IRT is released into the baby's blood. The IRT can be high if a baby is premature or had a stressful delivery, or for other reasons. The IRT tends to be high in people who have CF. When a newborn has a high IRT, in our institution then checks for changes in the gene that causes cystic fibrosis. If positive, it takes sweat test, which is still the main diagnosis of CF. - The diagnosis out of the screening is based on clinical suspicion of the disease (metabolic alkalosis, chronic diarrhea, weight loss, chronic pulmonary infection or repeat, constant breathing problems in the neonate for meconium ileus...). Imaging studies play a key role in suspected disease because they help the diagnosis, such as infants with clinically suspected meconium ileus, who underwent a plain abdominal film and barium enema to confirm. 2. MONITORING PROTOCOL - Once diagnosed the disease, imaging studies are still essential in monitoring these patients, so that on the annual checks are routinely performed abdominal ultrasound and plain chest film. In our study, we have performed a retrospective review of radiological findings found with abdominal ultrasound, abdomen plain film and barium enema in 50 children with Cystic Fibrosis in our institution between January 1997 and December Using frequency tables, the sex and age, and the presence of pancreatic, hepatobiliary, bowel, kidney and spleen manifestations were analyzed. Results 50 children were included in the study, 29 (58%) boys and 21 (42%) girls, whose ages ranged from 1 to 14 years, with a mean age of 8.3 years Page 3 of 27
4 1. Pancreatic manifestations The pancreas was affected with ultrasound in 40 patients (80%), and the findings were fatty replacement in 27 patients (67%) atrophy of the gland in 10 ichildren (25%) and in 3 patients (8%) were visualized pancreatic cysts. ( Fig. 1: Abdominal ultrasound shows pancreatic gland was affected in 40 patients (80%) and in 10 children (20%) was normal. Page 4 of 27
5 Fig. 2: The most common findings were fatty replacement in 27 patients (67%) atrophy of the gland in 10 children (25%) and in 3 patients (8%) were visualized pancreatic cysts., Page 5 of 27
6 Fig. 3: Ultrasound reveals fatty replacement of the pancreas in a seven-year-old children with CF. Page 6 of 27
7 Fig. 4: Ultrasound identifies fatty replacement and atrophy (arrow) of the pancreas in a six-year-old children with CF. Page 7 of 27
8 Fig. 5: Figure A and B show complete replacement of the pancreatic parenchyma by innumerable cysts (pancreatic cystosis) in a 13-year-old girl with CF. 20% (10) of patients showed no pancreas abnormality on US. 2.Hepatic impairment The liver was affected in 13 (26%) children: 6 of them (46%) showed steatosis, 3 (23%) steatosis and hepatic enlargement and 4 (31%) patients chronic liver disease. In any case data from portal hypertension were visualized. Page 8 of 27
9 Fig. 6: Abdominal ultrasound shows liver was affected in 13 patients (26%) while in 37 children (74%) was normal. Page 9 of 27
10 Fig. 7: The most common finding were steatosis in 6 patients(46%), steatosis and hepatic enlargement in 3(23%) children and 4 (31%) patients had chronic liver disease. Page 10 of 27
11 Fig. 8: Figure A and B. Steatosis in a 12-year-old children with identifies diffusely increased hepatic echogenicity compared with renal cortex(arrow). Page 11 of 27
12 Fig. 9: 14 year- old- boy with CF. Ultrasound reveals a heterogeneous liver parenchyma with hyperechoic areas (areas of steatosis) and hypoechoic areas (** parenchyma preserved), compatible with patchy fat infitration. Page 12 of 27
13 Fig. 10: Longitudinal US image of the right upper quadrant shows a multinodular cirrhosis in a 14-year-old children with CF. Page 13 of 27
14 Fig. 11: Iltrasound reveals a left hepatic lobe with lobulated surface and with marked heterogeneity of the liver parenchyma related to chronic liver disease. We did not observe portal hypertension. 74% ( 37) of patients showed no hepatic abnormality on US. 3.Biliary involvement The gallbladder was affected in 13 (26%) patients: 7 of them (54%) showed microgallbladder, 4 (31%) biliary sludge and 2 patients (15%) gallstones. Page 14 of 27
15 Fig. 12: Abdominal ultrasound shows gallbladder was affected in 13 patients (26%) and in 37 children (74%) was normal. Page 15 of 27
16 Fig. 13: The most common findings were: 7 patients(54%) showed microgallbladder, 4 (31%) biliary sludge and 2 patients (15%) gallstones. Page 16 of 27
17 Fig. 14: 14 year- old- boy with CF. Abdominal ultrasound(longitudinal) shows a microgallbladder. Page 17 of 27
18 Fig. 15: Figure A. Longitudinal US image shows biliary sludge in a 11-year-old children with CF. Figure B. Oblique US image of the right upper quadrant in a 13-year-old children with CF shows a shadowing calculi without thickening of the gallbladder wall. 74% (37) of patients showed no gallbladder-biliary tract abnormality on US. 4.Bowel imanifestations The bowel was affected on radiographics exams (abdominal plain film, barium enema and ultrasound) in 26 children (65%). 8 (31%) of them showed meconium ileus, 7 (27%) children bowel wall thickening, 4 (15%) mucoid appendix, 4 (15%) patients appendix and bowel wall thickening, 2 (8%) of them ileocolic intussusception and 1 patient (4%) meconuim ileus and microcolon. Page 18 of 27
19 Fig. 16: Abdominal ultrasound shows the bowel was affected in 26 patients (65%) and in 14 children (35%) was normal. Page 19 of 27
20 Fig. 17: The most common findings were meconium ileus in 8 (31%), bowel wall thickening in 7 (27%)children, mucoid appendix in 4 (15%),appendix and bowel wall thickening in 4 (15%) patients, 2 (8%) of them ileocolic intussusception and 1 (4%) meconium ileus and microcolon. Page 20 of 27
21 Fig. 18: Newborn presents with abdominal distention, bilious emesis, and failure to pass meconium within 48 hours. Supinde frontal plain film shows dilated bowel loops without distal air:intestinal obstruction. Image from the first attempt at a contrast material enema shows a typical microcolon involving the entire large bowel. In the surgical procedure,a meconium ileus was confirmed. Page 21 of 27
22 Fig. 19: Newborn with symptoms of a meconium plug syndrome A. Supine, frontal, abdominal radiograph shows intestinal dilatation, which is especially severe in the left upper quadrant where a soap bubble pattern is evident (arrow). B.Image from the first attempt at a contrast material enema shows a typical microcolon. Multiple filling defects representing meconium are present in the descending colon and transverse colon. In the surgical procedure,a meconium ileus was confirmed. Page 22 of 27
23 Fig. 20: A. 12-year-old girl with cystic fibrosis.transverse sonogram through abdomen reveals cecal wall thickening (arrow. B.8-year-old boy with CF.Transverse ultrasound identifies ileum wall thickenig up to 5mm. Page 23 of 27
24 Fig. 21: 8-year-old girl with cystic fibrosis. Ultrasound shows enlarged appendix with mucous inspissation.the appendix of CF patients is routinely enlarged(> 6 mm) in the absence of appendicitis resulting from mucoid impaction. Using secondary signs to diagnose appendicitis is critical. The prevalence of appendicitis is reportedly lower in CF patients (1-2%) than in the general population (7%). Page 24 of 27
25 Fig. 22: 3-year-old girl with cystic fibrosis. Ultrasound of the right upper quadrant identifies "pseudokidney' and #target" configurations, respectively, characteristic of ileocolic intussusception. 35% of patients showed no bowel abnormality on radiographic exams. 5.Splenic or renal impairment In any patient was showed splenic or renal impairment. Conclusion Abdominal manifestations are important to recognize because of its high incidence and because sometimes (meconium ileus) precede the lung manifestations Page 25 of 27
26 Awareness of these in patients with CF may affect: - Assessment of the extent of the disease - Decisions on treatment requirements - Evaluation of the effectiveness of treatment References References 1. Agrons GA, Corse WR, Markowitz RI, et al. Gastrointestinal manifestations of cystic fibrosis: radiologic-pathologic correlation.radiographics 1996;16: S C Ling, J D Wilkinson, A S Hollman, J McColl, T J Evans, J Y Paton.The evolution of liver disease in cystic fibrosis.arch Dis Child 1999;81: ThomasH,Helbich,GertraudHeinz-Peer,Dominik Fleischmann,Claudia Wojnarowski,Patrick Wunderbaldinger,Sabine Huber,lrmgard Eichler,Christian J. Herold.Evolution of CT Findings in Patients with Cystic Fibrosis.AJR 1999;173: Leonard J. King, Erica D. Scurr,Natarajan Murugan,Simon G. J. Williams,David Westaby,Jeremiah C. Healy,Hepatobiliary and Pancreatic Manifestations of Cystic Fibrosis: MR Imaging Appearances.RadioGraphics 2000;20: Tanya M. Fields,Steven J. Michel,Carina Butler,Vesna M. Kriss,Sheri L. Albers,Fields TM, Michel SJ, Butler. Abdominal Manifestations of Cystic Fibrosis in Older Children and Adults. AJR 2006; 187: Robertson MB, Choe KA, Joseph PM. Review of the abdominal manifestations of cystic fibrosis in the adult patient.radiographics 2006; 26: Hans P. Haber Cystic Fibrosis in Children and Young Adults: Findings on Routine Abdominal Sonography.AJR 2007; 189: Protocolo de cribado neonatal de la Fibrosis Quística y descripción del programa actual de cribado neonatal en la CAPV.Consejo Asesor de Cribado Neonatal de Enfermedades Congénitas de la CAPV.Departamento de Sanidad y Consumo del Gobierno Vasco.4/12/09 Personal Information Page 26 of 27
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