الفهرس 
Robertsonian translocationOnly 14 pages are availabe for public view
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Abstract
Down syndrome is the most common chromosome abnormality among live born infants. It is the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration. Gallstones are uncommon in children, with a prevalence of no more than 0.5%. They are usually asymptomatic. Recently published studies indicate a higher prevalence of gallstones in children with Down syndrome (DS). Various factors have been posited to explain the higher incidence of gallstones in DS children. One theory is based on the hypomotility of the gallbladder in DS patients. The aim of this study was to investigate gallbladder motility in children with Down syndrome by measuring gallbladder volume and contraction index. The study was conducted on 20 Down syndrome patients recruited from the Genetics, Clinic at Tanta University Hospital in the period from May 2015 to November 2016 (group I) and 20 age and sex matched healthy control subjects. Children above 15 years old or with obesity were excluded. All the children included in the study were subjected to: • Complete history taking. • Full clinical examination including anthropometrics. • Laboratory investigations: complete blood picture, serum cholesterol, triglycerides, alanine amine transferase (ALT), aspartate amine transferase (AST), and alkaline phosphatase (ALP). • Radiological investigations: abdominal ultrasound examination while fasting 8–12 hours with special emphasis on gallbladder. Measured parameters of gallbladder included fasting volume (FV), residual volume (RV) (the volume measured 30 minutes after a meal consisting of 100 g chocolate). The contraction index (CI) was calculated by the formula: CI (%)={(FV − RV) / FV}×100 and contraction index (CI). Our results revealed that: 1. There was no significant difference between patient group and control group regarding age, sex and risk factors of gallbladder disease. 2. There was no significant difference between patient group and control group regarding CBC and liver function tests. The mean cholesterol levels of the study group were higher than those of the control group, but the difference was not statistically significant. 3. The CI of the study group was significantly lower than that of the control group. 4. CI showed insignificant difference on comparing patients with no risk factors for gallbladder disease with those who had risk factors. 5. There were statistically significant positive correlations between FV and RV of children with DS and age, weight, height. 6. There was no statistically significant correlation between CI and different clinical and laboratory parameters. Conclusion: Our results showed that CI was lower in patients with DS, suggesting gallbladder hypomotility. Although there was no evidence of gallstones in any of the DS group, this hypomotility may be important to the increased prevalence of gallbladder diseases in DS.