Talk:BGDB Gastrointestinal - Activity 4

2. Common Abnormalities

What is the most common gastrointestinal abnormality of the newborn?

Associated anomalies in cases with esophageal atresia

Stoll C, Alembik Y, Dott B & Roth MP. (2017). Associated anomalies in cases with esophageal atresia. Am. J. Med. Genet. A , 173, 2139-2157. PMID: 28577344 DOI.

Stoll C1, Alembik Y1, Dott B1, Roth MP1. Author information Abstract Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 116 cases with esophageal atresia, representing a prevalence of 2.99 per 10,000, 54 (46.6%) had associated anomalies. There were 9 (7.8%) cases with chromosomal abnormalities including 6 trisomies 18, and 20 (17.2%) nonchromosomal recognized dysmorphic conditions including 12 cases with VACTERL association and 2 cases with CHARGE syndrome. Twenty five (21.6%) of the cases had multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the digestive, the urogenital, the musculoskeletal, and the central nervous systems were the most common other anomalies. The anomalies associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 29 out of 54 cases (53.7%). This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was close to one in two cases, emphasizes the need for a thorough investigation of cases with EA. A routine screening for other anomalies may be considered in infants and in fetuses with EA. © 2017 Wiley Periodicals, Inc. KEYWORDS: VACTERL association; congenital anomalies; congenital malformations; esophageal atresia; tracheooesophageal fistula PMID: 28577344 DOI: 10.1002/ajmg.a.38303

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