Cholelithiasis and biliary sludge in Down’s syndrome patients

Boechat, M. Ines; Silva, Kátia Silveira da; Llerena, Juan Clinton; Boechat, Paulo Roberto

doi:10.1590/s1516-31802007000600005

Cited by 12 publications

(6 citation statements)

References 20 publications

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“…In our study, the earliest case of lithiasis was detected in an 8 months‐old girl, asymptomatic, with adequate body mass index, breastfeeding, balanced diet, and no history of hospital admission. In another Brazilian study with 547 people with DS aged one to 3 years, 50 (9.1%) presented alterations in the gallbladder on ultrasound (6.9% lithiasis and 2.1% biliary sludge) with spontaneous resolution in 66.7% of patients with biliary sludge and 163 (28.9%) with lithiasis (Boechat, Silva, Llerena Jr., & Boechat, ). Cholecystectomy was performed in 26.3% of patients with gallstones (Boechat et al, ).…”

Section: Discussionmentioning

confidence: 97%

“…In another Brazilian study with 547 people with DS aged one to 3 years, 50 (9.1%) presented alterations in the gallbladder on ultrasound (6.9% lithiasis and 2.1% biliary sludge) with spontaneous resolution in 66.7% of patients with biliary sludge and 163 (28.9%) with lithiasis (Boechat, Silva, Llerena Jr., & Boechat, ). Cholecystectomy was performed in 26.3% of patients with gallstones (Boechat et al, ). People with DS are at an increased risk of developing gallstones and should be monitored throughout the neonatal period, even if there are no known risk factors for it.…”

Section: Discussionmentioning

confidence: 97%

“…In general, these gallbladder abnormalities occur without symptoms and resolve spontaneously in most asymptomatic patients. Serial abdominal ultrasound is recommended and surgery is indicated for symptomatic cases or when cholecystitis is present (Boechat et al, ).…”

Section: Discussionmentioning

confidence: 99%

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Gastrointestinal disorders in Down syndrome

Bermudez

Oliveira

Cat

et al. 2019

American J of Med Genetics Pt A

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Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to determine the prevalence of gastrointestinal disorders at a Down syndrome outpatient clinic during a 10-year follow-up period. Data from medical files were retrospectively reviewed from 1,207 patients. Gastrointestinal changes occurred in 612 (50.7%). The most prevalent disorder was chronic intestinal constipation. Intestinal parasite occurred in 22% (mainly giardiasis), gastroesophageal reflux disease in 14%, digestive tract malformations occurred in 5%: 13 cases of duodenal atresia, 8 of imperforate anus, 4 annular pancreases, 2 congenital megacolon, 2 esophageal atresias, 2 esophageal compression by anomalous subclavian and 1 case of duodenal membrane. We had 38/1,207 (3.1%) patients with difficulty in sucking and only three with dysphagia that resolved before the second year of life. Peptic ulcer disease, celiac disease, and biliary lithiasis were less prevalent with 3% each. Awareness of the high prevalence of gastrointestinal disorders promotes outstanding clinical follow-up as well as adequate development and greater quality of life for patients with Down syndrome and their families. K E Y W O R D S congenital malformation, Down syndrome, gastrointestinal diseases

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 97%

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Gastrointestinal disorders in Down syndrome

Bermudez

Oliveira

Cat

et al. 2019

American J of Med Genetics Pt A

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“…This index was at a similar level to that reported (41.2%) in a small sample of Down syndrome patients (n=9) and markedly lower than reported (75.0%) for healthy control individuals (n=10). 15 In Down syndrome, gallbladder abnormalities have been found in 9.1% (6.9% cholelithiasis and 2.1% biliary sludge), 31 and diagnosed gallstones in 6.9% 9 and 4.7%. 13 Similar to Down syndrome, the immature enteric nervous system in females with RTT might have contributed to the dysfunction in the gastrointestinal tract.…”

Section: Discussionmentioning

confidence: 99%

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

Freilinger

Böhm

Lanator

et al. 2014

Develop Med Child Neuro

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AIM This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease.METHOD The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. Gallbladder function in 25 females (mean age 16y 5mo, SD 20y 7mo, range 3y 5mo-47y 10mo) with Rett syndrome (RTT) was evaluated with clinical assessment and ultrasound of the gallbladder. The Delphi technique was used to develop assessment and treatment recommendations. RESULTSThe incidence rate for cholelithiasis and/or cholecystectomy was 2.3 (95% confidence interval [CI] 1.1-4.2) and 1.8 (95% CI 1.0-3.0) per 1000 person-years in the Australian and International Databases respectively. The mean contractility index of the gallbladder for the clinical sample was 46.5% (SD 38.3%), smaller than for healthy individuals but similar to children with Down syndrome, despite no clinical symptoms. After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic.INTERPRETATION Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in the X-linked methylCpG-binding-protein-2 (MECP2) gene.1 After a period of apparently normal early development, there is a period of regression including loss of purposeful hand use and/or language skills, and the development of distinctive hand stereotypies and impaired gait. There are also supportive criteria including poor growth, respiratory irregularities, and the development of scoliosis.2 Many factors contribute to poor growth in RTT including altered oropharyngeal dysfunction and reduced food intake, 3,4 and problems with gastroesophageal motility such as reflux and constipation. 5Dysmotility may result from absent primary or secondary intestinal waves and the presence of tertiary intestinal waves as observed during videofluoroscopy, with concurrent delayed gastric emptying and atony.3 In a recent questionnaire-based survey in the USA (n=983), feeding problems were reported in 81% and gastrointestinal problems in 92% of individuals with Rett syndrome. 6 Gastrointestinal dysfunction in RTT contributes to clinical severity and affects the daily lives of the females and their caregivers. 6In general, gallstones are rare in childhood and adolescence, with estimated prevalence between 0% and 2% in the small number of studies undertaken. [7][8][9][10][11][12] However, there appears to be a higher prevalence in particular populations of children, such as those with Down syndrome, with reported prevalences up to 25%. 13,14 Clinical studies in Down syndrome indi...

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“…Çal›flmam›z-da hastalar›m›z›n 15'inde (%25) seftriyakson kullan›m› mevcuttu ve izlemde tafllar›n kayboldu¤u görülmüfltü. Down sendromlu hastalarda yap›lan çal›flmalarda, kontrol gruplar›na göre yüksek oranlarda (%4,5 ile %7) safra tafl› saptand›¤› bildirilmifltir (18)(19)(20). Bu çocuklarda intrauterin hiperkolesteroleminin ya da safra kesesi hipomotilitesinin safra tafl› geliflimini kolaylaflt›rabilece¤i belirtilmifltir (21).…”

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Çocukluk çağında safra taşları: 60 olgunun geriye dönük incelenmesi

Fakirullahoğlu¹,

Dinler²,

Kalaycı³

2011

tpa

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Ç Ço oc cu uk kl lu uk k ç ça a¤ ¤› ›n nd da a s sa af fr ra a t ta afl fll la ar r› ›: : 6 60 0 o ol lg gu un nu un n g ge er ri iy ye e d dö ön nü ük k i in nc ce el le en nm me es si i G Ga al ll ls st to on ne es s i in n c ch hi il ld dh ho oo od d: : R Re et tr ro os sp pe ec ct ti iv ve e a an na al ly ys si is s o of f 6 60 0 c ca as se es s F Fa at ti ih h F Fa ak ki ir ru ul ll la ah ho o¤ ¤l lu u, , G Gö ön nü ül l D Di in nl le er r* *, , A Ay yh ha an n G Ga az zi i K Ka al la ay yc c› ›* * S Su um mm ma ar ry yAim: The purpose of this study was to documentation of the characteristics of children with cholelithiasis by means of age, sex, clinical manifestations and risk factors. Material and Method: Sixty cases (aged 0-18 years) with ultrasonographic evidence of cholelithiasis were enrolled in the study. Results: Mean age of the patients was 7.8±5.1 years (range: 0.25-18 years), 38 (63.3%) of them were females. Underlying risk factors were identified in 34 (56.7%) of cases (15 ceftriaxone use, six hemolytic diseases, five Down's syndrome, four obesity, two total parenteral nutrition and sepsis, one inflammatory disease and one chronic cholestatic liver disease). No etiology could be found in 26 (43.3%) patients who were defined as idiopathic. Of 46 patients who were followed at least for three months, eight (17.4%) had cholecystectomy, 16 (34.8%) showed differences in stone size and the stones were resolved in 24 patients (52.2%). When the cases related to ceftriaxone use were excluded, the percentage of the disappaerance of the stones was found to be 28.3%. Ursodeoxycolic acid was effective on resolution of symptoms in 69.2% of patients. The complications of gallstones were recorded in five (8.3%) patients. Conclusions: Cholelithiasis is more common in children than previously thought. The most common risk factors are ceftriaxone use and hemolytic diseases but about half of the cases are still idiopathic. There is a need for close monitoring of patients in especially risk groups because of gallstone development and its complications. (Turk Arch Ped 2010; 45: 119-23)

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Cholelithiasis and biliary sludge in Down’s syndrome patients

Cited by 12 publications

References 20 publications

Gastrointestinal disorders in Down syndrome

Gastrointestinal disorders in Down syndrome

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

Çocukluk çağında safra taşları: 60 olgunun geriye dönük incelenmesi

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