Hirschsprung’s Disease & Genetic Syndromes: Rare Case Series Explained скачать в хорошем качестве

Hirschsprung’s Disease & Genetic Syndromes: Rare Case Series Explained

In this video, we explore a rare case series involving syndromic and malformative associations in Hirschsprung’s disease, based on research conducted from January 2017 to January 2020 at a tertiary care hospital. Hirschsprung’s disease, characterized by the absence of ganglion cells in the colon, is commonly seen as an isolated congenital condition. However, in this study, several patients exhibited associated syndromes such as Down syndrome and Shah-Waardenburg syndrome, and even associated neoplasms. ✅ What You’ll Learn: The genetic basis of Hirschsprung’s disease (RET pathway) Syndromic associations like Down syndrome & Waardenburg syndrome Role of chromosomal and somatic mutations Clinical signs, diagnostic process, and biopsy findings Importance of genetic counseling for families 🔬 Case Series Includes: 4 patients with syndromic Hirschsprung’s disease Malformation and neoplasm association Total colonic aganglionosis in Waardenburg syndrome 🔔 Subscribe for more rare pediatric case discussions and genetic disorder insights. \\\\\\\\\\\\\\\\\\\\\\ Syndromic and Malformation Association in Hirschsprung’s Disease: A Case Series Layman’s Abstract: Hirschsprung’s disease is a genetic condition where certain nerve cells (called ganglion cells) are missing from parts of the intestine, which leads to problems with passing stool, especially in newborn babies. It’s one of the main causes of intestinal blockage in infants. This condition happens in about 1 in every 5,000 to 10,000 births, and it's slightly more common in Asian populations. Hirschsprung’s disease usually happens on its own, but in some cases, it can occur along with other birth defects or genetic syndromes. The disease is linked to changes in certain genes, especially ones affecting how nerve signals work in the intestine. This report discusses four cases treated at a hospital between 2017 and 2020 where children had Hirschsprung’s disease along with rare genetic syndromes. Tests on intestinal tissue helped confirm the diagnosis. Two of the children had known genetic syndromes—Down syndrome and Shah-Waardenburg syndrome. Children with Down syndrome are at much higher risk for Hirschsprung’s disease. One child had both a birth defect and a tumor. Because these conditions are linked to genetic changes, testing the patient and their parents can help doctors understand the cause and guide future care. Early diagnosis through awareness of related syndromes and genetic counseling is important for managing this rare but serious condition. #HirschsprungsDisease #GeneticDisorders #PediatricHealth #DownSyndromeAwareness #ShahWaardenburgSyndrome #CongenitalDisorders #NeonatalCare #RareDisease #GeneticCounseling #IntestinalObstruction Related queries Hirschsprung’s Disease Syndromic Hirschsprung’s Disease Down Syndrome and Hirschsprung’s Waardenburg Syndrome Pediatric surgery case study Rare genetic disorders Intestinal obstruction in neonates RET gene mutation Colonic aganglionosis Genetic counseling in pediatrics Neonatal intestinal diseases To read other sections of this article please visit: https://bookstore.bookpi.org