Talk:BGDB Gastrointestinal - Activity 4

2. Common Abnormalities

What is the most common gastrointestinal abnormality of the newborn?

Gastrointestinal malformations, associated congenital abnormalities, and intrauterine growth

Tárnok A & Méhes K. (2002). Gastrointestinal malformations, associated congenital abnormalities, and intrauterine growth. J. Pediatr. Gastroenterol. Nutr. , 34, 406-9. PMID: 11930098

Tárnok A1, Méhes K.

Abstract BACKGROUND: In contrast with other malformations, congenital anomalies of the gastrointestinal tract have been scarcely investigated. METHODS: The prevalence of gastrointestinal malformations with special reference to associated disorders and intrauterine growth was retrospectively analyzed in the newborn infants admitted to the Neonatal Intensive Care Unit of the Department of Pediatrics, University of Pécs, Hungary, in the 14-year period between 1987 and 2000. RESULTS: Of 4,241 neonates with gastrointestinal malformations, 241 (5.68%) had a total of 304 malformations (excluding Hirschsprung disease). In 133 patients, the gastrointestinal anomalies were observed as one of multiple malformations; a specific syndrome or association was diagnosed in 36 cases. Skeletal disorders were the most frequently associated anomalies. Intrauterine growth retardation was found in a large number of patients with both isolated and multiple gastrointestinal malformations (38.9% and 30.8%, respectively). CONCLUSIONS: Gastrointestinal malformations often are complicated by skeletal anomalies and intrauterine growth retardation. The association among these disorders requires further investigation. However, from a practical point of view, this association should be considered in treating affected patients.

Malformations, choristomas, and hamartomas of the gastrointestinal tract and pancreas

Johncilla M & Yantiss RK. (2018). Malformations, choristomas, and hamartomas of the gastrointestinal tract and pancreas. Semin Diagn Pathol , , . PMID: 30482417 DOI.

Johncilla M1, Yantiss RK1. Author information Abstract Congenital and hamartomatous lesions of the gastrointestinal tract cause diagnostic challenges for surgical pathologists. Many of these are merely histologic curiosities, whereas others have substantial clinical implications because they herald cancer syndromes or associated anomalies. Although a comprehensive discussion of all developmental abnormalities that can occur in the gastrointestinal tract is beyond the scope of a single manuscript, some entities are more likely to be encountered by surgical pathologists, have important clinical consequences, or pose diagnostic difficulties. The purpose of this review is to discuss the more common malformations and choristomas, as well as hamartomatous lesions that may be clinically important due to their risk for cancer development, frequent associations with heritable cancer syndromes and other anomalies, or potential to simulate other entities. Copyright © 2018. Published by Elsevier Inc. PMID: 30482417 DOI: 10.1053/j.semdp.2018.11.004

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

Slavikova T, Zabojnikova L, Babala J & Varga I. (2015). An embryological point of view on associated congenital anomalies of children with Hirschsprung disease. Bratisl Lek Listy , 116, 640-7. PMID: 26621159

Slavikova T, Zabojnikova L, Babala J, Varga I. Abstract

The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological deficit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary deficiency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75). KEYWORDS: Down syndrome.; Hirschsprung disease; cardiac abnormalities; genitourinary abnormalities; hypothyroidism; impaired cellular immunity; neurological deficiency PMID: 26621159

Gastrointestinal disorders can affect neonates and infants:

Gastroesophageal reflux

Hypertrophic pyloric stenosis

Intussusception

Meconium ileus

Meconium plug syndrome

Necrotizing enterocolitis

Neonatal cholestasis