scholarly journals Duodenal Atresia and Hirschsprung Disease in a Patient with Down Syndrome

2011 ◽  
Vol 8 (2) ◽  
Author(s):  
Mustafa Koplay ◽  
Tamer Sekmenli ◽  
Ulas Alabalik ◽  
Ali Sami Kivrak
2020 ◽  
Vol 30 (5) ◽  
pp. 82-84
Author(s):  
Ilja Skalskis

Hirschsprung disease (HD) is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Incidence of total colonic aganglionosis (TCA) is 1 in 500 000 and it accounts for 5-10% of all cases of HD. HD should be suspected in patients with typical clinical symptoms and a high index of suspicion is appropriate for infants with a predisposing condition such as Down Syndrome (DS), or for those with a family history of HD. The treatment of choice for HD is surgical, such as Swenson, Soave, and Duhamel procedures. The goals are to resect the affected segment of the colon, bring the normal ganglionic bowel down close to the anus, and preserve internal anal sphincter function. We present a clinical case report of TCA in a child with Down syndrome (DS) and review of literature.


Author(s):  
Rutika, B. Maske

The purpose of this review is to provide the latest information on Down syndrome. The author conducted a literature search of available sources describing the issue of down syndrome with special focus on syndrome and made a comparison and evaluation of relevant findings.The results of this review indicate that Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer’s disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease.


PEDIATRICS ◽  
2012 ◽  
Vol 130 (5) ◽  
pp. e1382-e1384 ◽  
Author(s):  
K. L. Jones ◽  
E. K. Pivnick ◽  
S. Hines-Dowell ◽  
D. E. Weese-Mayer ◽  
E. M. Berry-Kravis ◽  
...  

2009 ◽  
Vol 30 (5) ◽  
pp. 771-775 ◽  
Author(s):  
Stacey Arnold ◽  
Anna Pelet ◽  
Jeanne Amiel ◽  
Salud Borrego ◽  
Robert Hofstra ◽  
...  

Author(s):  
Syed Ali Raza ◽  
Anna Clebone

Chapter 12 examines radiologic images for common and uncommon pediatric gastrointestinal disorders. These include neonatal high bowel obstructions such as midgut malrotation and volvulus, duodenal atresia, duodenal web, annular pancreas, and pyloric stenosis. The chapter goes on to look at neonatal low bowel obstruction, including ileal disease such as ileal atresia and meconium ileus and colonic disease such as Hirschsprung disease and meconium plug. We then look at causes of pediatric bowel obstruction in older patients, such as intussusception, appendicitis, enteric duplication cysts, and inguinal hernia. Additional neonatal disorders discussed include necrotizing enterocolitis, and meconium peritonitis. Diseases of the pancreas examined include cystic fibrosis and pancreatitis. Liver tumors reviewed are infantile hepatic hemangioma and hepatoblastoma. Diseases of the biliary system looked at include choledochal cysts and biliary cysts, and biliary atresia. Splenic abnormalities examined include polysplenia and asplenia, heterotaxy syndromes, and sickle cell disease.


PLoS ONE ◽  
2013 ◽  
Vol 8 (5) ◽  
pp. e62519 ◽  
Author(s):  
Anne-Sophie Jannot ◽  
Anna Pelet ◽  
Alexandra Henrion-Caude ◽  
Asma Chaoui ◽  
Marine Masse-Morel ◽  
...  

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