The document discusses several congenital gastrointestinal and hepatobiliary conditions including esophageal atresia, biliary atresia, anorectal malformations, Meckel's diverticulum, and Hirschsprung disease. It covers the epidemiology, clinical findings, diagnostic evaluations, differential diagnoses, management, and complications for each condition. The goal for many of these conditions is early surgical intervention to restore organ continuity or drainage.

1. Congenital Malformation of
Gastrointestinal and
hepatobiliar
Nailul Huda

2. Atresia esofagus
• Insidence: 1 : 3000 – 4500 life birth
• Etiology has been attributed to genetic
factors, infections, and teratogens, but in most
instances, no cause is identifiable

3. Classification
(A) pure atresia of the esophagus, (B) esophageal atresia with proximal TE
fistula, (C) esophageal atresia with distal TE fistula, (D) esophageal atresia with
double fistula, and (E) H-type fistula.

4. Diagnosis and clinical findings
• During gestation: fetal ultrasound. Almost all patients with
esophageal atresia (and up to 60% of patients with atresia
and TE fistula) have polyhydramnios.
• Neonate:
– Excessive drooling  the first symptom
– feedings are attempted  chokes, regurgitates, and cyanotic.
– Overflow of pharyngeal secretions into the trachea  noisy
breathing
– Respiratory distress is progressive
• Diagnosis is confirmed by inability to pass a firm oral or
nasal tube into the stomach.
• Radiograph to confirm the position of the tube
• seek other congenital anomalies.

5. Management
• The goal of treatment is to surgically restore
esophageal continuity
• Primary repair is treatment of choice for esophageal
atresia and TE fistula
• If respiratory status is inadequate, or require further
investigation, surgery may be delayed for a few days
• In premature infants with respiratory distress
syndrome, gastrostomy and fistula division 
decompresses the abdomen and allows adequate lung
ventilation  stable  definitive procedure to restore
esophageal continuity

6. Complication
Common long-term problems after esophageal atresia
repair:
• Dysphagia (50.3%)
• Gastroesophageal reflux disease without esophagitis (56.5%)
• Gastroesophageal reflux disease with esophagitis (40.2%)
• Wheeze (34.7%)
• Recurrent respiratory tract infections (24.1%)
• Physician-diagnosed asthma (22.3%)
• Persistent cough (14.6%)
• Barrett esophagus (6.4%)  4x adult populatin, 26x children
population

7. Esophageal Atresia Without Fistula
• Insidence: 5-8% of esophageal anomalies
• Diagnosis and clinical findings
– During intrauterine life,: polyhydramnios, the absence of a
stomach bubble.
– Neonatal period: excessive drooling and a scaphoid abdomen.
– Radiologic findings pathognomonic of pure esophageal atresia
include a dilated upper pouch and absence of air below the
diaphragm.
• Treatment
– Initial treatment: continuous suction of the upper pouch and a
feeding gastrostomy constitute initial treatment.
– Primary esophagus repair can be performed, usually at an age of
2-3 months

8. Biliary atresia
• Biliary atresia  characterized by obliteration or
discontinuity of the extrahepatic biliary system,
resulting in obstruction to bile flow
• The pathogenesis of this disorder remains poorly
understood.
• Problems of hepatobiliary ontogenesis  atresia
 with another congenital anomalies.
• The more common neonatal type is characterized
by a progressive inflammatory lesion  a role for
infectious and/or toxic agents causing bile duct
obliteration.

9. Epidemiology
• Frequency
– 1 per 10,000-15,000 live births.
• Mortality/Morbidity
– Long-term survival rate for infants with biliary atresia
following portoenterostomy was 47-60% at 5 years and 25-
35% at 10 years.
– 1/3 patients, bile flow is inadequate following surgery 
biliary cirrhosis  liver transplantation
– Post portoenterostomy, complications : cholangitis (50%)
and portal hypertension (>60%).
• Sex
– females > males.

10. Diagnosis and Clinical finding
• Jaundice, dark urine, and light stools
• full-term infant, although a higher incidence
of low birthweight may be observed.
• In most cases, acholic stools are not noted at
birth but develop over the first few weeks of
life. Appetite, growth, and weight gain may be
normal.

11. • Typically full term infant and may have normal growth and
weight gain during the first few weeks of life.
• Hepatomegaly
• Splenomegaly progressive cirrhosis with portal
hypertension.
• Direct hyperbilirubinemia is increase
• Physiologic jaundice frequently merges into conjugated
hyperbilirubinemia. Physiologic unconjugated
hyperbilirubinemia rarely persists beyond 2 weeks. Infants
with prolonged physiologic jaundice must be evaluated for
other causes.
• A high index of suspicion is key to making a diagnosis 
surgical treatment before 2 months  better outcome

12. Differential Diagnoses
• Alagille Syndrome
• Alpha1-Antitrypsin Deficiency
• Byler disease
• Choledochal Cysts
• Cholestasis
• Galactose-1-Phosphate
Uridyltransferase Deficiency
(Galactosemia)
• Idiopathic neonatal hepatitis
• Inborn errors of bile acid synthesis
• Lipid Storage Disorders
• Neonatal Hemochromatosis
• Nonsyndromic intrahepatic bile duct
hypoplasia
• Pediatric Caroli Disease
• Pediatric Cytomegalovirus Infection
• Pediatric Herpes Simplex Virus
Infection
• Pediatric Rubella
• Sinonasal Manifestations of Cystic
Fibrosis
• Syphilis
• Total parenteral nutrition–associated
(TPN) cholestasis
• Toxoplasmosis
• Viral infections (eg, toxoplasmosis,
other infections, rubella,
cytomegalovirus infection, and
herpes simplex [TORCH])

13. Laboratory study
• Serum bilirubin (total and direct): Conjugated
hyperbilirubinemia, defined as any level exceeding
either 2 mg/dL or 20% of total bilirubin, is always
abnormal.
• Direct hyperbilirubinemia (a universal finding in
neonatal cholestasis), enzyme abnormalities include
elevated AP levels.
• GGTP is elevated
• Aminotransferase levels are not particularly helpful
in establishing a diagnosis

14. Imaging study
• Ultrasonography
– To exclude specific anomalies of the extrahepatic
biliary system, particularly choledochal cysts.
Today, a diagnosis of choledochal cyst should be
made in utero using fetal ultrasonography.
– absence of the gallbladder and no dilatation of the
biliary tree  the sensitivity and specificity of
these findings < 80%

15. Other test
• Endoscopic retrograde cholangiopancreatography (ERCP)
– unavailable for infant
• Percutaneous liver biopsy
– The most valuable study for evaluating neonatal cholestasis
– Morbidity is low in patients without coagulopathy.
– It can differentiate between obstructive and hepatocellular
causes of cholestasis, with 90% sensitivity and specificity for
biliary atresia.
• Intraoperative cholangiography
– definitively demonstrates anatomy and patency of the
extrahepatic biliary tract
– when liver biopsy findings suggest an obstructive etiology

16. Management
• Medical Care
– No primary medical treatment is relevant.
– The objective is to confirm the diagnosis.
• Surgical
– Once biliary atresia is suspected surgical
intervention for a definitive diagnosis (intraoperative
cholangiogram) and therapy (Kasai
portoenterostomy).
– dissection into the porta hepatis and creation of a
Roux-en-Y anastomosis with a 35-cm to 40-cm
retrocolic jejunal segment

17. Complication
• In the early postoperative phase, an unsuccessful
anastomosis with failure to achieve adequate bile
drainage  biliary cirrhosis
• Progressive liver disease and portal hypertension (60%)
of infants who achieved initial surgical success.
• Cholangitis (50%)
• Hepatocellular carcinoma
• Progressive fibrosis and biliary cirrhosis develop in
children who do not drain bile, and liver
transplantation is the only option for long-term
survival.

18. Prognosis
• The initial success rate of Kasai portoenterostomy (is 60-80%.
• Less likely to require early liver transplantation if the
portoenterostomy is performed when they are < 10 weeks.
• The transplant-free survival rate Kasai is 53.7% (1year) and 46.7%
(2years)
• Factors that predict improved long-term outcome after Kasai:
– Younger than 10 weeks (in some reports, 2 mo) at operation
– Preoperative histology and ductal remnant size
– Presence of bile in hepatic lobular zone 1
– Absence of portal hypertension, cirrhosis, and associated anomalies
– Experience of the surgical team
– Postoperative clearing of jaundice

19. Anorectal Malformation
• Wide spectrum of defects in the development of
the lowest portion of the intestinal and urogenital
tracts
– imperforate anus
– When a malformation of the anus is present, the
muscles and nerves associated with the anus often
have a similar degree of malformation
– The spine and urogenital tract may also be involved.
– Interference with anorectal structure development at
varying stages leads to various anomalies

20. Epidemiology
Frequency
– 1 per 5000 live births.
– Race and sex: No known race and sex predilection
Mortality/Morbidity
– rarely fatal
– some associated anomalies (cardiac, renal) can be
life threatening
– Intestinal perforation or postoperative septic
complications

21. Morbidity
• Malformation-related morbidity
– Constipation.  mild malformations  rectal dilation.
– Severe forms : fecal and urinary incontinence.
• Surgery-related morbidity
– line infections and pneumonia.
– Wound infections or anastomotic breakdowns can
occur in any intestinal surgery.
• injury to surrounding pelvic organs because these
organs (such as vagina or urethra and seminal
vesicles)

22. Clinical Finding
• Prenatal ultrasonography are often normal
• Most children with an anorectal malformation are
identified upon routine newborn physical examination
• Delayed presentation is often the result of incomplete
initial examination.
• Subtle malformations, such as those in some children
with perineal fistula that may look normal to the casual
glance
• Often discovered within 24 hours when the newborn is
observed to have distention and has failed to pass
meconium and a more thorough examination is
performed.

23. Investigation
• Urinalysis : Recto-orinaria fistule
• Lateral pelvic radiography at 24 hours,
– holding the baby upside down and using lateral
radiography to observe the level of gas in the distal
rectum.
– Wait 24 hours after birth  maximal pelvic pouch
distension  cross-table lateral pelvic radiography with a
radio-opaque marker on the anal dimple with the child in
the prone position and the hips slightly raised
– If the pouch is observed within 1 cm of the marker, some
surgeons offer primary repair without colostomy. For
pouches farther than 1 cm, colostomy is performed.

24. Management
• Treat life threatening comorbid condition first
• Do not give enteral feeding  intravenous hydration
• Urinary fistula is suspected  broad spectrum
antibiotic
• Investigate other congenital anomaly
• Surgery:
– Cut back incission
– Primary neonatal pull-through without colostomy
– Neonatal colostomy  pull-through colostomy clossure

25. Meckel’s Diverticulum
• The most common congenital abnormality of the small
intestine (2% population)
• caused by the failure of the omphalomesenteric duct
to completely obliterate at 5-7 weeks' gestation.
• Despite the availability of modern imaging techniques,
diagnosis is challenging
• Usually asymptomatic
– Complications can require clinical attention
– One type involves ectopic mucosal tissue and most often
leads to GI bleeding in younger children.
– In the second type, an obstruction, inflammation, or,
rarely, perforation of the bowel is present.

26. Clinical Finding
• History
– Most patients are asymptomatic incidental finding when a barium
study or laparotomy is performed
– Symptomatic Meckel diverticulum is virtually synonymous with a
complication  obstruction, ectopic tissue, or inflammation
– bowel obstruction (35%), hemorrhage (32%), diverticulitis (22%),
umbilical fistula (10%), and other umbilical lesions (1%).
– In children, hematochezia is the most common presenting sign 
painless rectal bleeding
– Pain often delays the correct diagnosis.
– The clinical presentation includes abdominal pain in the periumbilical
area that radiates to the right lower quadrant.

27. • Intestinal obstruction  abdominal pain, bilious vomiting,
abdominal tenderness, distension, and hyperactive bowel
sounds upon examination.
• Palpable abdominal mass.
• intestinal ischemia or infarction  acute peritoneal signs and
lower GI bleeding.
• Diverticulitis:
– focal or diffuse abdominal tenderness, rebound
tenderness
– Late finding: Abdominal distention and hypoactive bowel
sounds
– Suppurative : abdominal pain and periumbilical cellulitis

28. Differential diagnoses
• Colitis, Colonic Vascular
Malformations
• Emergent Treatment of
Gastroenteritis
• Gastrointestinal Duplications
• Henoch-Schonlein Purpura
• Intestinal Polyposis Syndromes
• Intestinal duplication
• Intussusception
• Juvenile Polyps
• Necrotizing Enterocolitis
• Pediatric Appendicitis
• Pediatric Constipation
• Pediatric Crohn Disease
• Pediatric Hirschsprung Disease
• Pediatric Urolithiasis
• Peptic Ulcer Disease
• Peutz-Jeghers Syndrome
• Postoperative Adhesions
• Ulcerative Colitis in Children
• Volvulus

29. Laboratory Study
• Routine laboratory findings are not helpful in
establishing the diagnosis but are necessary to
manage a patient with GI bleeding along with a
type and cross.
• Hemoglobin and hematocrit levels are low in the
setting of anemia or bleeding.
• Ongoing bleeding from a Meckel diverticulum 
iron deficiency anemia.
• Low albumin and low ferritin levels may lead to a
diagnosis of inflammatory bowel disease.

30. Imaging study
• Meckel’s Scanning
• Barium studies
• USG

31. Treatment and Management
• Medical care
– depends on the clinical presentation
– Acutely ill  establish an iv line immediately, start crystalloid fluids,
and keep the patient on nothing by mouth (NPO) status.
– Obtain the blood investigations suggested above with a type and cross
match  transfusion if indicated
– Intestinal obstruction: nasogastric decompression  plain
radiography of the abdomen.
– Bleeding, specifically a dark tarry stool gastric lavage to rule out
upper GI bleeding. If the gastric lavage is negative for bleeding,
consider an upper endoscopy and flexible sigmoidoscopy.
– The surgery team should be consulted to discuss the possible need for
laparoscopy and/or laparotomy
• Surgical : resection of the diverticle

32. • antibiotics whenever acute Meckel
diverticulitis, strangulation, perforation, or
signs of small bowel obstruction or sepsis are
present.

33. Hirschsprung disease
• developmental disorder  absence
of ganglia in the distal colon,
resulting in a functional obstruction
• Most cases are diagnosed in the
newborn period  considered in
any newborn that fails to pass
meconium within 24-48 hours of
birth.
• Contrast enema is useful in the
diagnosis, full-thickness rectal
biopsy remains the criterion
standard.

34. • Hirschsprung disease is strongly associated with
Down syndrome; 5-15% of patients with
Hirschsprung disease also have trisomy 21.
• Other associations include Waardenburg
syndrome, congenital deafness, malrotation,
gastric diverticulum, and intestinal atresia.
• definitive treatment: remove aganglionic bowel
and restore continuity of the healthy bowel with
the distal rectum, with or without an initial
intestinal diversion.

35. Pathophysiology
• The absence of enteric neurons within the myenteric
and submucosal plexus of the rectum and/or colon.
• Enteric neurons are derived from the neural crest and
migrate caudally with the vagal nerve fibers along the
intestine.
• These ganglion cells arrive in the proximal colon by 8
weeks' gestation and in the rectum by 12 weeks'
gestation.
• Arrest in migration leads to an aganglionic segment.
This results in clinical Hirschsprung disease.

36. Epidemiology
• Prevalence :1 per 5000
• Mortality/Morbidity
– The overall mortality of Hirschsprung enterocolitis is 25-30%, which
accounts for almost all of the mortality from Hirschsprung disease.
• Sex
– Hirschsprung disease is approximately 4 times more common in males
than females.
• Age
– Nearly all children with Hirschsprung disease are diagnosed during the
first 2 years of life.
– Approximately one half of children affected with this disease are
diagnosed before they are aged 1 year.
– A small number of children with Hirschsprung disease are not
recognized until much later in childhood or adulthood

37. Clinical Finding
• History
– Newborn: abdominal distention, failure of passage of meconium
within the first 48 hours of life, and repeated vomiting.
– A family history of a similar condition is present in about 30% of
cases.
– Rarely experience soiling and overflow incontinence.
– Malnourished  early satiety, abdominal discomfort, and
distention associated with chronic constipation.
– Older infants and children: chronic constipation, refractory to
usual treatment protocols and may require daily enema therapy.
– Hirschsprung enterocolitis, a fatal complication, typically
presents with abdominal pain, fever, foul-smelling and/or
bloody diarrhea, as well as vomiting. If not recognized early,
enterocolitis may progress to sepsis, transmural intestinal
necrosis, and perforation.

38. Phisical finding
• Infants
– tympanitic abdominal distention and symptoms of intestinal
obstruction.
– acute enterocolitis or with neonatal meconium plug syndrome.
• Children:
– usually diagnosed by age 2 years.
– chronic constipation
– marked abdominal distention with palpable dilated loops of colon.
– Rectal examination: empty rectal vault and may result in the forceful
expulsion of fecal material upon completion of examination.
• Less commonly, older children with Hirschsprung disease may be
chronically malnourished and/or present with Hirschsprung
enterocolitis.

39. Imaging
• Sign of obstruction, colon dilatation, enterocolitis
• Unprepared single-contrast barium enema: If
perforation and enterocolitis are not suspected
– identify a transition zone between a narrowed
aganglionic segment and a dilated and normally
innervated segment.
– reveal a nondistensible rectum, which is a classic sign
of Hirschsprung disease.
– A transition zone may not be apparent in neonates,
because of insufficient time to develop colonic
dilation, or in infants who have undergone rectal
washouts, examinations, or enemas.

40. Other test
• Rectal manometry: In older children who present
with chronic constipation and an atypical history
for either Hirschsprung disease or functional
constipation
• Children with Hirschsprung disease fail to
demonstrate reflex relaxation of the internal anal
sphincter in response to inflation of a rectal
balloon.
• Suction biopsy or resection absence of
ganglion cells and hypertrophic extrinsic nerve
fibers.

41. Treatment and Management
• Medical care
– high-grade intestinal obstruction: intravenous hydration,
withholding of enteral intake, and intestinal and gastric
decompression.
– digital rectal examination or normal saline rectal irrigations
3-4 times daily.
– Administer broad-spectrum antibiotics to patients with
enterocolitis.
– Immediately request surgical consultation for biopsy
confirmation and treatment plan.
– While awaiting surgical intervention in the event of a
planned single-stage pull-through procedure, the baby
should receive scheduled vaccinations.

42. • Surgical care
– Patient's age, mental status, ability to perform
activities of daily living, length of the aganglionic
segment, degree of colonic dilation, and presence of
enterocolitis.
– leveling colostomy, which is a colostomy at the level of
normal bowel; a staged procedure with placement of
a leveled colostomy followed by a pull-through
procedure; or a single-stage pull-through procedure.
– The single-stage pull-through procedure may be
performed with laparoscopic, open, or transanal
techniques.

43. Prognosis
• The outcome is generally quite good.
• Most children obtain fecal continence and
control.
• Children with other significant comorbidities,
such as major genetic abnormalities, may
have lower rates of continence.

44. Abdominal Wall Defects
(Omphalocele and Gastroschisis)
• Ventral abdominal body wall defects that
includes gastroschisis and omphalocele, are
relatively common

45. Epidemiology
• In US:
– Gastroschisis: 1 case in 2,229 births (about 1,871
infants each year)
– Omphalocele: 1 case in 5,386 births (about 775
babies annually)

46. Omphalocele
• The intestines do not return to
the abdominal cavity; rather,
they remain within the extra-
embryonic coelom (amniotic
cavity) bounded by the
umbilical ring
• Omphaloceles
– associated with increased
maternal age.
– occur in twins, consecutive
children, and different
generations of the same family.
– associated with trisomy 13, 18,
and 21 (in 25%-50 % of cases)
and with Beckwith-Wiedemann
syndrome

47. gastroschisis
• There appears to be a weakness in
the body wall (caused by defective
ingrowth of mesoderm, or impaired
midline fusion, or inappropriate
apoptosis) that allows the intestines
to herniate through this defect into
the amniotic cavity
• occurs in young mothers with low
gravida
• associated with prematurity and
small-for-gestational-age (SGA)
infants, and denotes in utero
growth retardation.
• The clustering of cases (number and
severity) suggests a multifactorial
etiology, including environmental
factors acting upon susceptible
hosts.

48. Other abdominal wall defects
• Urachal remnants and omphalomesenteric
duct malformations
• Bladder exstrophy
• Prune-belly syndrome
• Cloacal exstrophy

49. Thank You