Chapter 17-Congenital Abnormalities Flashcards
What is the esophageal atresia
Incomplete development of the esophagus, leading to a thin, noncanalized cord that causes obstruction
Where is esophageal atresia most commonly occurring
At the tracheal bifurcation
What is esophageal atresia normally associated with
-fistula connecting the upper and lower esophageal pouches to the bronchus or the trachea
What can the presence of the fistula lead to
Aspiration, suffocation,pneumonia, fluid and electrolyte imbalance
What conditions are developmental abnormalities of the esophagus associated with
- Congenital heart defects
- genitalurinary malformations
- Neurological disease
What is the most common form of congenital intestinal atresia and what is the cause
Imperforate anus, which is due to the failure of the cloacal diaphragm to involat
What is the process of stenosis
Incomplete atresia due to the reduction in lumen size as a result of fibrosis
What is a diaphragmatic hernia
Incomplete formation of the diaphragm allows the abdominal viscera to herniate into the thoracic cavity
What complications is associated with diaphragmatic herniation
Pulmonary hypoplasia incompatible with life
When does an omphaloceole occur
Closure of the abdominal musculature is incomplete and the abdominal viscera herniate into a ventral membranous sac
When does a gastroschisis occur
Similar to an omphaceole, except every layer is involved, including the skins and peritoneum
What is normally associated with omphalocele formation
Other birth defects (40%)
What is the most commone site of ectopic gastric mucosa and what is it referred to as
Upper third of the esophagus, where it is known as an inlet patch
How is gastric heterotrophs present as
Small patches of gastric mucosa in the small bowl or colon will present with occult blood loss due to peptic ulceration
What is the most common diverticulum and where does it commonly occur
Meckels diveriticulum, and occurs in the ileum
Which embryo structure leads to formation of Meckel’s diverticulum
Viteline duct (connects the gut to the yolk sac)
What are the rule of 2s, with Meckels diverticulum
- 2% of population
- within 2 feet of illeocecal valve
- 2 inches long
- 2x more likely in male
- symptomatic by age 2
What is the most common location of acquired diverticula
Sigmoid colon
What is the location of the blind pouch commonly seen in Meckels
Antimesenteric side of the small bowel
What is the gender that is more common for Congentical hypertrophic pyloric stenosis
3-5x more likely in males
Which conditions increases the risk of Congentical hypertrophic pyloric stenosis
- Turner syndrome
- Trisomy 18
- erythromycin or azithromycin in first two weeks of life
When does congenital hypertrophic pyloric stenosis commonly present
Between third and sixth week of life
What are the symptoms that will normally present for congenital hypertrophic pyloric stenosis
New onset of regurgitation
Projectile, nonbilious vomiting after feeding
Demands for refeeding
What are the physical exam findings in a patient with congenital hypertropic pyloric stenosis
Firm, ovoid mass in the abdominal wall
-Left to right hyperperistalsis during feeding and before vomiting
What is the cause of acquired hypertropic pyloric stenosis
Natural gastritis or peptic ulcers
Which conditions are associated with Hirshprung
Down syndrome
What is the condition of genital aganlionic megacolon
Hurshprungs
Which component of the GI is missing in Hirschsprung disease
-Meissner submucoasal and Auerbach myenteric plexus
Loss or mutation in which gene results in Hirschsprung disease
Receptor tyrosine kinase RET
What is the stain that can be used to look for aganlionic conditions in Hirschsprung
H and E stain looking for ascetylcholinesterase
What is an identifiying feature of Hirschsprung in newborns
Unable to pass meconium
What are the major life threading conditions associated with Hirschsprung disease
Enterocolitis
Fluid and electrolyte imbalance
Perforation
Peritonitis
