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Skip segment Hirschsprung disease and Waardenburg syndrome [PDF]

Journal of Pediatric Surgery Case Reports, 2015
Skip segment Hirschsprung disease describes a segment of ganglionated bowel between two segments of aganglionated bowel. It is a rare phenomenon that is difficult to diagnose.
Erica R. Gross, Gabrielle C. Geddes, Julie A. McCarrier, Jason A. Jarzembowski, Marjorie J. Arca   +4 more
doaj   +2 more sources

Hirschsprung disease and hepatoblastoma: case report of a rare association

São Paulo Medical Journal
CONTEXT: Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births.
Raquel Borges Pinto, Ana Regina Lima Ramos, Ariane Nadia Backes, Beatriz John dos Santos, Valentina Oliveira Provenzi, Mário Rafael Carbonera, Maria Lúcia Roenick, Pedro Paulo Albino dos Santos, Fabrizia Falhauber, Meriene Viquetti de Souza, João Vicente Bassols, Osvaldo Artigalás   +11 more
doaj   +2 more sources

Different Fecal Microbiota in Hirschsprung's Patients With and Without Associated Enterocolitis

Frontiers in Microbiology, 2022
Background and ObjectivesPatients with Hirschsprung's disease are at risk of developing Hirschsprung-associated enterocolitis, especially in the first 2 years of life.
Alexis P. Arnaud, Alexis P. Arnaud, Ianis Cousin, Françoise Schmitt, Thierry Petit, Benoit Parmentier, Guillaume Levard, Guillaume Podevin, Audrey Guinot, Stéphan DeNapoli, Erik Hervieux, Valérie Flaum, Philine De Vries, Gwénaëlle Randuineau, Sandrine David-Le Gall, Sylvie Buffet-Bataillon, Sylvie Buffet-Bataillon, Gaëlle Boudry   +17 more
doaj   +1 more source

Concurrent hirschsprung disease and esophageal atresia with tracheoesophageal fistula in a preterm neonate

Journal of Pediatric Surgery Case Reports, 2018
We describe a preterm neonate with concomitant Hirschsprung disease (HD) and esophageal atresia (EA) with tracheoesophageal fistula (TEF). This is the first report to identify the coexistence of these distinct malformations in a preterm infant. Keywords:
Rashmi Gulati, MD, Om Prakash Jha, MD, Michael M. Zayek, MD   +2 more
doaj   +1 more source

THE MANAGEMENT OF CHRONIC CONSTIPATION IN PEDIATRIC PATIENTS [PDF]

Romanian Journal of Pediatrics, 2021
Introduction. Chronic constipation is a common reason for a pediatric patient to visit a doctor and we think that the number of cases is increasing but only a few patients are diagnosed with Hirschsprung disease. Aim.
Simona-Gabriela Tudorache, Daniela Dobrițoiu, Silvia Răgălie, Alin Stoica, Laura-Mihaela Ion   +4 more
doaj   +1 more source

Hirschsprung disease in an adult with intestinal malrotation and volvulus: an exceptional association

Journal of Medical Case Reports, 2019
Background Hirschsprung disease is a neonatal discovery in almost all cases, and the association of Hirschsprung disease in adults with symptomatic intestinal malrotation is unusual.
Elise Lupon, François Labbe, Emile Nini, Sixte Sondji   +3 more
doaj   +1 more source

Transcriptomics of Hirschsprung disease patient-derived enteric neural crest cells reveals a role for oxidative phosphorylation

Nature Communications, 2023
Hirschsprung disease is characterized by the absence of enteric neurons caused by the defects of enteric neural crest cells, leading to intestinal obstruction.
Zhixin Li, Kathy Nga-Chu Lui, Sin-Ting Lau, Frank Pui-Ling Lai, Peng Li, Patrick Ho-Yu Chung, Kenneth Kak-Yuen Wong, Paul Kwong-Hing Tam, Maria-Mercedes Garica-Barcelo, Chi-Chung Hui, Pak Chung Sham, Elly Sau-Wai Ngan   +11 more
doaj   +1 more source

Desmosis coli as an extremely rare cause of constipation in children – case report and mini-review

Pediatria Polska, 2023
Desmosis coli (DC) is an extremely rare condition of unknown pathogenesis. Only a few cases have been reported in the literature. It is characterised by the absence of connective tissue between muscle layers in the colon. Chronic constipation is the main
Jakub Kucharski, Aldona Ząber, Brygida Zapała, Barbara Skowrońska, Magdalena Dobrowolska, Justyna Konys, Dariusz Piotrowski, Aleksandra Banaszkiewicz, Marcin Banasiuk   +8 more
doaj   +1 more source

Chronic partial colonic obstruction from a congenital web

Journal of Pediatric Surgery Case Reports, 2020
Congenital colonic stenosis is a rare anomaly that mostly presents in the neonatal period with colonic obstruction. The similarity of presentation with Hirschsprung diseases prompts discussion on suspicion, detection and management.
Timothy Jumbi, Peter Mwika
doaj   +1 more source

Experiências de mães de filhos com doença de hirschsprung: subsídios para o cuidado de enfermagem Experiencias de madres en la atención de los hijos con Enfermedad de Hirschsprung: contribución para la atención de enfermería Experiences of mothers in care to children with Hirschsprung Disease: supports for nursing care

Escola Anna Nery, 2009
O estudo tem por objetivo conhecer as experiências de mães de filhos com doenças de Hirschsprung atendidos em um hospital escola, em um município no interior do estado de São Paulo. Trata-se de um estudo descritivo e exploratório, com análise qualitativa
Maria José Gilbert, Débora Falleiros de Mello, Regina Aparecida Garcia de Lima   +2 more
doaj   +1 more source