Some types of congenital abnormalities GIT.pptx

Detailed notes on some types of congenital abnormalities

1. Congenital anomalies of GIT

2. By the end of this session the students should be able to Outline possible congenital abnormalities outline the possible presentation of the Various abnormalities and treatment options objectives

3. Many gastrointestinal malformations manifest with symptoms at birth e.g. TEF some may first become symptomatic at any time in life (e.g., small bowel malrotation or Meckel diverticulum). introduction

4. GIT malformations that become symptomatic generally require surgical correction.  Anomalies associated with compromised blood flow to the bowel (e.g., midgut volvulus) are surgical emergencies

5. Clefts of the lip and palate are distinct entities closely related embryologically, functionally, and genetically CL is a congenital fissure in the upper lip CP is a midline fissure of the palate that results from failure of the two sides to fuse. Cleft Lip and Palate

6. The incidence of cleft lip with or without cleft palate is about 1 in 750 white births the incidence of cleft palate alone is about 1 in 2,500 white births. Clefts of the lip are more common in males. Cp may involve the soft and hard palate One or both sides Incidence and Epidemiology Unilateral clefts are nine times more common than bilateral clefts 60% to 80% of children born with cleft lip and palate are male.

7. Possible causes include maternal drug exposure, a syndrome-malformation complex genetic factors. There are families in which a cleft lip or palate, or both, is inherited in a dominant fashion (van der Woude syndrome recurrence risk is 50%. may occur sporadically Ethnic factors Clefts are highest among Asians and lowest among blacks. Etiology

8. The incidence of associated congenital malformations and impairment in development is increased in children with cleft defects, especially in those with cleft palate alone.

9. Cleft lip may vary from a small notch in the vermilion border to a complete separation extending into the floor of the nose. Clefts may be unilateral (more often on the left side) or bilateral and may involve the alveolar ridge. Deformed, supernumerary, or absent teeth are associated findings. Clinical Manifestations

10. Supportive The immediate problem in an infant born with a cleft lip or palate is feeding. the use of soft artificial nipples with large openings, a squeezable bottle proper instruction Specific -surgical treatment

11. Esophageal atresia (EA) is the most frequent congenital anomaly of the esophagus It affects about 1 in 4,000 neonates. more than 90% have an associated tracheoesophageal fistula (TEF). In the most common form of EA, the upper esophagus ends in a blind pouch and the TEF is connected to the distal esophagus. Esophageal atresia

12. This defect now has survival rates of greater than 90% Infants weighing less than 1,500 g at birth have the highest risk for mortality.

13. Fifty per cent of infants have associated anomalies, most often associated with the VATER/VACTERL V ertebral Anomalies A norectal-Anal atresia C ardiac Anomalies(VSD,TOF) T rachea-TEF E sophagus-Atresia R enal( horseshoe,Pelvic kidney) and /or R adial anomalies(Aplasia) L imb syndrome. Oesophageal atresia ctd ……..

14. (CHARGE association) Coloboma, heart, choanal atresia, mental retardation, genital, and ear anomalies Duodenal atresia and intestinal malrotation It has a slight male preponderance.

15. Diagnosis. early-onset respiratory distress the inability to pass a nasogastric or orogastric tube in the newborn is suggestive of esophageal atresia.

16. Given their inability to swallow, affected babies tend to “froth” saliva from their mouths and have episodes of coughing, choking, and cyanosis, especially with feeding. Prenatally, maternal polyhydramnios may alert the physician to Esophageal Atresia.

17. Plain radiography in the evaluation of respiratory distress may reveal a coiled feeding tube in the esophageal pouch and /or air- distended stomach indicating the presence of a coexisting TEF

18. P ure EA may present as an airless, scaphoid abdomen. In isolated TEF, an esophagogram with contrast medium injected under pressure may demonstrate the defect.

19. orifice may be detected at bronchoscopy or when methylene blue dye injected into the endotracheal tube during endoscopy is observed in the esophagus during forced inspiration

20. Initially, maintaining a patent airway and preventing aspiration of secretions is paramount. Prone positioning minimizes movement of gastric secretions into a distal fistula, and esophageal suctioning minimizes aspiration from a blind pouch. Management

21. Endotracheal intubation is avoided because it may worsen distention of abdominal viscera. Surgical ligation of the TEF and primary end-to-end anastomosis of the esophagus are performed when feasible.

22. In the premature or otherwise complicated infant, a primary closure may be delayed by temporizing with fistula ligation and gastrostomy tube placement.

23. The majority of infants grow up to lead normal lives complications are frequently challenging, particularly during infancy. Complications of surgery include anastomotic leak, re- fistulization , anastomotic stricture. . prognosis

24. Gastroesophageal reflux disease (GERD), resulting from intrinsic abnormalities of esophageal function, often combined with delayed gastric emptying may occur

25. GERD contributes significantly to the respiratory disease (reactive airway disease) that often complicates EA and TEF and also worsens the frequent anastomotic strictures after repair of EA

26. Esophageal stenosis occurs in 1 in 25,000 to 50,000 live births It has associated anomalies include esophageal atresia tracheoesophageal fistula duodenal atresia anorectal anomalies Down syndrome. Esophageal Stenosis

27. The causes of esophageal stenosis include the presence of ectopic tracheobronchial remnants a membranous diaphragm fibromuscular stenosis. Clinical features Dysphagia, especially with solid food vomiting dribbling of saliva respiratory distress failure to thrive

28. The incidence of pyloric atresia is low (less than 1% of cases of intestinal atresia). It may be associated with multiple atresias of the small and large bowel or with epidermolysis bullosa lethalis . Pyloric Atresia

29. Persistent nonbilious vomiting occurs from birth. When associated with multiple atresias of the small and large bowel or with epidermolysis bullosa lethalis (blister) the outcome is usually fatal Presentation of pyloric atresia

30. The incidence of a gastric antral diaphragm or web is less than 1 in 100,000. The gastric antrum (or pylorus) may be completely or partially obstructed by a circumferential membrane consisting of redundant mucosa and submucosa. Children may have failure to thrive and recurrent non bilious vomiting from birth or may first present later in life. Gastric Antral Diaphragm or Web

31. Hypertrophic pyloric stenosis occurs in approximately 3 in 1,000 infants in the United States It is more common in whites of northern European ancestry, less common in blacks, and rare in Asians. Pyloric stenosis

32. Males (especially firstborns) are affected approximately four times as often as females. The offspring of a mother and to a lesser extent the father who had pyloric stenosis are at higher risk for pyloric stenosis.

33. Pyloric stenosis develops in approximately 20% of the male and 10% of the female descendants of a mother who had pyloric stenosis.

34. The incidence of pyloric stenosis is increased in infants with type B and O blood groups. Pyloric stenosis is associated with other congenital defects, including tracheoesophageal fistula.

35. The cause of pyloric stenosis is unknown, Genetic more in monozygotic than dizygotic twins. Pyloric stenosis has been associated with eosinophilic gastroenterits Apert syndrome Zellweger syndrome trisomy 18, Smith- Lemli - Opitz syndrome, Cornelia de Lange syndrome.

36. There is an association between the use of erythromycin in neonates, which is administered for pertussis post exposure prophylaxis and pyloric stenosis. Erythromycin is a motilin agonist and at doses used as an antibiotic can result in strong, nonpropagated contractions that may lead to hypertrophy of the pylorus. Intravenous prostaglandins may be associated with the development of pyloric obstruction

37. Clinical Manifestations. Nonbilious vomiting is the initial symptom of pyloric stenosis. The vomiting may or may not be projectile initially but is usually progressive, occurring immediately after a feeding. Emesis may follow each feeding, or it may be intermittent.

38. The vomiting usually starts after 3 wk of age, but symptoms may develop as early as the 1st wk of life and as late as the 5th mo. After vomiting, the infant is hungry and wants to feed again.

39. As vomiting continues, a progressive loss of fluid, hydrogen ion, and chloride leads to hypochloremic metabolic alkalosis. Serum potassium levels are usually maintained, but there may be a total body potassium deficit..

40. Jaundice associated with a decreased level of glucuronyl transferase is seen in proximately 5% of affected infants. The indirect hyperbilirubinemia usually resolves promptly after relief of the obstruction

41. diagnosis by palpating the pyloric mass. The mass is firm, movable, approximately 2 cm in length, olive shaped, hard, best palpated from the left side, and located above and to the right of the umbilicus in the mid epigastrium beneath the liver edge.

42. In healthy infants, feeding can be an aid to the diagnosis. After feeding, there may be a visible gastric peristaltic wave that progresses across the abdomen After the infant vomits, the abdominal musculature is more relaxed and the "olive" easier to palpate. The diagnosis can be established clinically 60-80% of the time by an experienced examiner.

43. Ultrasound examination confirms the diagnosis ,Criteria for diagnosis include pyloric thickness greater than 4 mm or an overall pyloric length greater than 14 mm Ultrasonography has a sensitivity of approximately 95%.

44. When barium studies are performed, they demonstrate an elongated pyloric channel, a bulge of the pyloric muscle into the antrum (shoulder sign), and parallel streaks of barium seen in the narrowed channel, producing a "double tract sign”

45. summary

46. Jejunal or ileal atresia occurs in 1 in 300 to 5000 live births (higher in certain familial cases), no sex preponderance. Associated anomalies may include Down syndrome, gastroschisis, malrotation, cystic fibrosis. Jejunal and Ileal Atresia

47. Jejunal atresia and ileal atresia are thought to be the result of ischemic necrosis caused by a focal mesenteric vascular accident, which may be initiated by a variety of events including volvulus and intussusception

48. Multiple atresias are seen in 6% to 21% of cases. Microcolon may accompany ileal atresias . Signs and symptoms of intestinal obstruction result and may be associated with significant proximal small bowel dilation and perforation

49. The duodenum is a common site for atresia or stenosis (occurring in approximately 1 in 10,000 to 30,000 live births). Most occur distal to the ampulla . Duodenal Atresia and Stenosis

50. Associated anomalies may include Down syndrome (up to 40%); esophageal atresia midgut malrotation annular pancreas anorectal cardiac genitourinary defects intrauterine growth retardation.

51. Children with this anomaly may have signs of obstruction, an increased incidence of jaundice, and a classic “double bubble” sign on radiography. Pyloric stenosis results in partial obstruction

52. The incidence of colonic atresia is 1 in 40,000 live births associated anomalies may include Hirschsprung disease small bowel atresia gastroschisis. Colonic Atresia

53. Colonic atresia commonly involves obstruction of the lumen with a membrane or disconnected blind ends to the right of the splenic flexure. It produces signs of progressive distal intestinal obstruction

54. Anorectal malformations are a complex group of malformations of rectum and anus. They range from anal stenosis to complete agenesis of anus and rectum. Anorectal Malformations

55. Low anomalies are usually treated in the newborn period and generally do well. Anterior displacement of the anus often appears later and only rarely requires surgical correction. Anal stenosis is managed with dilations. An anal membrane(imperforate anus) is treated by perforation

56. Malrotation and Midgut Volvulus Malrotation with midgut volvulus occurs in 1 in 6000 live births slightly more common in boys.

57. Associated anomalies may include congenital diaphragmatic hernia omphalocele gastroschisis mesenteric cysts Hirschsprung disease intussusception intestinal atresia. Malrotation presents most commonly in the neonatal period

58. The abdominal wall does not fully develop and remains open. Diagnosis • There may be exposed bowel (gastroschisis) or a thin layer covering the bowel ( omphalocoele ) Abdominal Wall Defects

59. Ultrasonography has enabled prenatal diagnosis of abdominal wall defects and should allow delivery at a specialized center. These defects occur in approximately 4 per 10,000 pregnancies.

60. Gastroschisis is a small defect in the abdominal wall, lateral and usually to the right of the umbilical cord that allows a variable amount of intestine and other abdominal organs to herniate out. Gastroschisis

61. The bowel is malrotated , not fixed, and uncovered (compare with omphalocele). It is typically inflamed, matted, and shortened. The bowel is covered with a thick “peel,” which regresses over 2 to 4 weeks after repair.

62. Intestinal atresia occurs in 5% to 25% of infants with gastroschisis, but it may be difficult to identify initially because of the peel. Associated anomalies are uncommon. Neonatal care has significantly improved the survival of children with gastroschisis.

63. An omphalocele is a central umbilical ring defect through which abdominal contents herniate. In contrast to gastroschisis, a membrane composed of peritoneum and amnion covers the herniated viscera. Omphalocele

64. Defects range from small umbilical cord hernias to the presence of the entire intestine and liver in the sac secondary to huge abdominal wall defects. Rupture of the contents out of the sac can occur.

65. Omphaloceles are commonly associated with chromosomal abnormalities ( trisomy 13, 18, and 21) cardiac, musculoskeletal, gastrointestinal, and genitourinary anomalies. It has been associated with Beckwith- Wiedemann syndrome neural tube defects pentalogy of Cantrell (omphalocele, short sternum, defect of the diaphragm and pericardium, and intracardiac

66. Treatment for both omphalocele and gastrochisis Apply a sterile dressing, and cover with a plastic bag or cling film (to prevent fluid loss). An exposed bowel can lead to rapid fluid loss and hypothermia. Give nothing orally. Pass a nasogastric tube for free drainage.

67. Give IV fluids: normal saline plus 5% glucose (dextrose) or half-strength Darrow solution – Then give maintenance fluid requirements plus the same volume that comes out of the nasogastric tube.

68. Antibiotic therapy Give ampicillin (25–50 mg/kg IV four times a day) plus gentamicin (7.5 mg/kg IV once a day) plus metronidazole (15 mg/kg as a single loading dose followed by 7.5 mg/kg every 12 h starting 24 h after loading dose

69. is a relatively uncommon cause of chronic constipation, especially outside of infancy.   Toddlers and children with fecal retention, stool withholding, and chronic fecal soiling rarely have Hirschsprung disease.   .   Hirschsprung disease

70. Hirschsprung disease always begins distally; therefore the distal rectum is always involved. the length of the aganglionic segment varies significantly from patient to patient

71. Absence of myenteric parasympathetic nerve ganglia results in absence of peristalsis in the aganglionic segment and dilated colon to the involved area. Because parasympathetic nerves also supply the dextrusor muscle of the bladder, Hirschsprung disease may also be associated with defects in bladder function.   The disorder may be definitively diagnosed by rectal suction biopsy or by anorectal manometry .

72. Hirschsprung disease, or congenital aganglionic megacolon , first described in 1888 is one of the rare causes of chronic constipation beginning in infancy.

73. Incidence is estimated at 1 in 5000 live births higher occurrence in Asians. Males predominate in short segment disease a familial association for total colonic Hirschsprung disease has been observed.

74. There is an association between Hirschsprung disease and other congenital anomalies including Down syndrome and central nervous system disorders. cases.

75. Genetic studies suggest that total intestinal aganglionosis is associated with identified gene mutations etiology

76. Hirschsprung disease is caused by absence or agenesis of myenteric parasympathetic nerve ganglia in the colon. This results in impeded transmission of peristaltic waves and failure of relaxation of the internal anal sphincter, resulting in obstructed passage of fecal material.

77. Clinical presentation chronic constipation enterocolitis. Delayed defecation results in proximal dilation of the colon, with ischemia and bacterial invasion, resulting in severe enterocolitis, a manifestation of the disease that requires immediate medical and surgical intervention and carries with it a high risk of mortality.

78. The disorder typically manifests during the neonatal period with the late passage of meconium and constipation from birth. If meconium is not passed within the first 48 hours, the likelihood of the child's having Hirschsprung disease is markedly increased.

79.   Delayed meconium passage (>48 hr).     Small, ribbon-like or pencil-like stools.     Tight anal tone, digital exam reveals no stool in the rectal vault and a “spurt” of stool upon removal of the finger.     

80. Poor growth, vomiting, and abdominal distention if extensive aganglionosis.    Diarrhea and bloody stools if enterocolitis is present.

81. Surgical resection of aganglionic portion Supportive care treatment

82. Many GIT malformations manifest with symptoms at birth and are likely to be identified by the midwife or the doctors dealing with children some may become symptomatic at any time in life (e.g., small bowel malrotation or Meckel diverticulum). Treatment is mainly surgical Early diagnosis is essential conclusion

83. Current Pediatric Therapy, 18th ed. , Copyright © 2006 Saunders Nelsons textbook of paediatrics, 19 th edition references