41. Congenital anomalies of the GIT, liver and pancreas.

Question 1

What are the congenital anomalies of the GIT

Answer 1

oesophageal atresia - upper esophagus not connected to the lower esophagus

Intestinal atresia
When a segment of intestine is very narrow /disconnected from the rest of the intestine / malrotated - most occur near or in the duodenum

Hirschsprung
ganglia have not formed on the intestines

Omphalocele - congenital herniation Of abdominal viscera through the abdominal wall at the umbilicus
Covered by amniotic membrane and peritoneum

———-

Congenital liver disease-

billary choledochal cyst-
Cystic dilation of biliary tree

Biliary atresia- obliteration or discontinuity of the extra- hepatic bile duct- most commonly the common bile duct

————

Congenital pancreas disease

Agenesis

Divisum - most common pancreatic congenital malformation
failure of ventral and dorsal buds to fuse and drainage of the pancreatic secretions are separate via minor and major duodenal papillae

Question 2

What are the different types of esophageal atresia?

Answer 2

Type A
Without tracheoesophgeal fistula

TYPE b
fistula Connected to proximal esophageal segment

C- most common
Fistula Connected to distal esophageal segment

D
CONNECTED TO PROXIMAL and distal

E
Just fistula

Question 3

What are the clinical features of esophageal atresia?

Answer 3

A
Polyhydroaminos
EXCESSICE SECRETIONS and FOAMING OF THE mouth
Choking
Drooling 
Inability to feed

B/c/D
Polyhydroaminos
Excessive secretions and foaming of the mouth
Choking
Drooling
Inability to feed

Due to tracheoesophageal fistula
Aspiration pneumonia
Coughing
Rales
Cyanotic attacks 

C-E
Gastric distension

E only this
Aspiration pneumonia
Coughing
Rales
Cyanotic attacks 
Gastric distension

Question 4

Diagnosis of esophageal atresia?

Answer 4

Feeding tube cannot pass through

X Ray
A-B- gasless abdomen
Esophageal pouch

C- D
large gastric bubble
Esophageal pouch

E
Large gastric bubble

Question 5

Treatment for esophageal atresia

Answer 5

Nasoesophageal tube for continuous suction - prevent aspiration abs facilitate breathing

Left lateral decubitus position

Prophylactic antibiotics- case aspiration pneumonia

————

Surgery in first 24 hours for anastomosis

If long gap between both ends of the esophagus then gastrotomy tube is necessary for enteral feeding
And promote elongation Of esophagus (Foker technique) and Colon interposition

———

Transition to normal diet after 2 days
Post operative ventilation for five days
X-ray with contrast every l week for assessment for complications such as esophageal stricture or anastomotic leak
4 weeks after procedure gastroscopy and dilation of the anastomosis

Question 6

Complication of esophageal atresia

Answer 6

Dysphagia l
GERD
Anastomotic stenosis

Question 7

What are the characteristics of intestinal atresia

Answer 7

Usually is seen with babies small for gestational age

Down syndrome!!!

Vascular incident in utero- non duodenal - (SMA occluded)

Can be familial

Question 8

Clinical features of intestinal atresia?

Answer 8

Duodenal and esophageal atresia - polyhydramnios

Usually when the jejunal gets stenotic - bilious vomiting

Failure to pass meconium- duodenal / jejunal

Abdominal distension- prominent in ileal atresia

Occasionally jaundice

Abdominal tenderness as a late complication of meconium peritonitis

Question 9

Diagnosis of intestinal atresia

Answer 9

Seen usually before birth - ultrasound- dilated intestinal segment due to blockage and polyhydroaminos

Infants
Xray
Ultrasound

Question 10

Treatment of intestinal atresia

Answer 10

IV fluid and nutrition

Nasogastric tube aspiration of the stomach

Laparotomy after birth
If the area affected is too small we can remove it and do anastomosis

If the narrowing is longer or area or the area is damaged and can’t be used for periods of time - stoma placed

Question 11

Complication of intestinal atresia

Answer 11

Pseudo- obstruction at surgery site due to Pre-existing intestinal dysmotility

If atresia not treated - perforation/ ischemia- abdominal tenderness and meconium peritonitis

Question 12

Etiology Of hirschsprung disease

Answer 12

Genetic
RET gene mutation - MEN(multiple endocrine neoplasia)2
Endothelin receptor B gene mutations - waardenburg syndrome (patchy depigmentation of skin and hair, broad nasal root, congenital deafness client lip and palate)

Trisomy 21- down

Neuroblastoma

Question 13

Where due hirschsprung disease most commonly affect?

Answer 13

Rectum - meisnner plexus (uncoordinated peristalsis, spa motility, spastic contractions and stenosis and functional obstruction) and Auerbach plexus

= megacolon

Ultrra short- limited to distal rectum below pelvic floor and anus

ShOrt segment- limited to rectosegmoid (80%).

Long segment- limited to distal colon to the splenic flexure

Total colonic

Question 14

Clinical features of hirschsprung disease

Answer 14

Delayed passage of meconium more than 48h

Intestinal obstruction- abdominal distension and bilious vomiting

Later Presentation - chronic constipation!
Inability to pass gas
Failure to thrive
Poor feeding

Question 15

Diagnosis for hirshprung disease

Answer 15

Digital rectal exam - right Amal sphincter
Empty rectum
Squirt sign - explosive release of air and stop when releasing the finge

X-ray -
Decrease or absent Air in rectum
Dilated colon immediately before the aganglionic region
Distal intestinal obstruction

Barium enema
Localise and determine they aganglionic segment

Anorectal manometry
Relaxation pressure off internal anal sphincter after distension with balloon (difficult with newborns - more in older children)

Rental biopsy- sometimes necessary because no change found in imaging and recap biopsy
There is absence of ganglion , elevated acetylcholinesterase activity

Question 16

Treatment of hirschsprung disease?

Answer 16

Surgical correction-
Transanal endorectal pull- through - preferred
Abdominoperineal pull through (diverting colostomy, then resection , anastomosis, preserve internal anal sphincter v important )

Maintain fluid and electrolyte valves - through IV fluid
Nasogastric decompression
Colonic irrigation may be required

Question 17

What are the complications of hirschsprung disease

Answer 17

Hirschsprung-associated enterocolitis

Symptoms of toxic megacolon
- abdominal pain, fever, foul smelling and bloody diarrhoea

If not treated - transmural intestinal Necrosis and perforation possibly

• give IV FLUID, broad spectrum IV antibiotics, rental irrigation with possible colostomy
  ——

Fecal incontinence
Urinary dysfunction
Erectile dysfunction
Peritonitis due to perforation

Question 18

Etiology Of omphalocele?

Answer 18

Trisomy 21

Trisomy 18- Edward’s syndrome (prominent occiput, low set ears, micrognathia, clenched fists with flexing , contractors with fingers, rocker bottom feet, organ malformation (horse spa kidney, congenital heart defects)

Trisomy 13 - patau syndrome (microcephaly , cleft lip and palate, microphthalmia, polydactyly, congenital heart defects)

Beckwith - weidemann syndrome (infants larger than normal- macro glossies, omphalocele, recurrent neonatal hypoglycaemia, increased risk of wilms tumour and hepatoblastoma

Question 19

Diagnosis of omphalocele?

Answer 19

Can be detected prenatal - with ultrasound
Polyhydraminos
Maternal serum alpha fetoprotein high

Clinical diagnosis at birth. - germination of abdominal organ with sealed by peritoneal membrane and the umbilical cured is attached to (unlike gastrochisis)

Question 20

Treatment of omphalocele?

Answer 20

C section to prevent rupture of sac

Wrap the hernia sac in sterile saline dressing covered with plastic wrap and the baby is kept warm

Nasogastric suction given

IV fluid

Surgery within first 24 hours

Question 21

Symptoms of choledochal cysts

Answer 21

Jaundice
Alcoholic stools / dark urine / pruritis
Hepatomegaly
Abdominal pain
If obstruction not relieved - permanent damage with scarring and cirrhosis

Older-
Abdominal pain which is intermittent

intermittent biliary obstruction - intermittent jaundice

Occasional cholangitis- Asia’s of bacteria from intestine into the bile duct

recurrent pancreatitis

Question 22

Diagnosis of choledochal cysts

Answer 22

Ultrasound
CT
ERCP(in older)
MRI

Question 23

Types of choledochal cyst

Answer 23

Type 1 - most common - saccular or fusiform dilation of a person or entire common bile duct but normal intrahepatic bile duct

Type 2 - protruding from common bile duct

Type 3- arise from duodenal portion of common bile duct or where pancreatic duct meets

Type 4a - multiple dilation involving of extra- hepatic duct and intra hepatic
B- multiple dilation extra hepatic duct

Type 5- cystic dilation of intake of intrahepatic bile ducts

Question 24

Treatment of choledochal cysts

Answer 24

Laparoscopic Surgical excision of cyst and anastomosis of hepaticojejunostomy
Choledochojejunostomy to the biliary duct

Question 25

Complications of choledochal cyst

Answer 25

Cholangitis

Malignancy

Question 26

What is the clinical manifestation of biliary atresia

Answer 26

Cholestasis- secondary biliary cirrhosis and portal hypertension

Prolonged neonatal jaundice for more than 2 weeks of life

Alcoholic stools pale or clay stools

Dark urine

Hepatomegaly

Pruritis

Question 27

Diagnosis of biliary atresia?

Answer 27

Increase in conjugated serum bilirubin

Liver enzymes increase
ALT/AST- high
Biliary Enzymes - ALP and GGT high

Bilirubin in urine when urine
analysis
Decrease urobilinogen in urine

Us

Liver biopsy- active inflammation of the bile duct degeneration and fibrosis

Hepatobiliary scintscanning - failed excretion of tracer into bowl

Intraoperative or percutaneous cholangiography with contrast

Question 28

Treatment for biliary atresia

Answer 28

Kasai procedure - connection created between the liver and small intestines
If Liver cirrhosis - liver transplant

Question 29

Complication for biliary atresia

Answer 29

Early biliary cirrhosis secondary sclerosis cholangitis

Post operative - cholangitis
Portal hypertension

Question 30

Clinical features Of Pancreas divisum -

Answer 30

Usually asymptomatic

Acute pancreatitis
- Constant, severe epigastric pain
Classically radiating towards the back 
Worse after meals and when supine
Improves on leaning forwards

Vomiting

Signs of shock: tachycardia, hypotension, oliguria/anuria
Possibly jaundice in patients with biliary pancreatitis
Abdominal examination
Abdominal tenderness, distention, guarding
Ileus with reduced bowel sounds and tympany on percussion
Ascites

Skin changes (rare) 
Cullen's sign: periumbilical ecchymosis and discoloration (bluish-red)  

Because the minor papilla dose notallow the normal flow of pancreatic secretions- this causes inflammation

Question 31

Diagnosis of pancreas divisum?

Answer 31

ERCP-

MRI - golden standard

_

Acute pancreatitis

↑ Serum pancreatic enzymes
Lipase: if ≥ 3 x the upper reference range → highly indicative of acute pancreatitis

Amylase (nonspecific)

Tests to assess severity
Hematocrit (Hct)
Should be conducted at presentation as well as 12 and 24 hours after admissions
↑ Hct (due to hemoconcentration) indicates third space fluid loss and inadequate fluid resuscitation
↓ Hct indicates the rarer acute hemorrhagic pancreatitis
WBC count
Blood urea nitrogen
↑ CRP andprocalcitonin levels - indicates if bacterial or not

↑ ALT

Alkaline phosphatase, bilirubin levels (

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Ultrasound
Main purpose: detection of gallstones and/or dilatation of the biliary tract (indicating biliary origin)

Signs of pancreatitis
Indistinct pancreatic margins (edematous swelling)
Peripancreatic build-up of fluid ; evidence of ascites in some cases
Evidence of necrosis, abscesses, pancreatic pseudocysts

CT scan: not routinely

MRCP and ERCP
Indications: suspected biliary or pancreatic duct obstructions

MRCP is noninvasive but less sensitive than ERCP
ERCP can be combined with sphincterotomy and stone extraction; but may worsen pancreatitis. with free air

Question 32

What is the treatment for pancreatic divisum

Answer 32

Non operative - pancreatic enzyme supplements
Low fat

Minor papillectomy
Minor papilla stenting
Balloon dilation of any strictures

Question 33

Meckel diverticulum

Answer 33

Usually asymptomatic
Symptoms
Abdominal pain
Painless gastrointestinal bleeding
Hematochezia- bright red fresh blood
Tarry stool- slow hermitage
Current Jelly - intussusception
Nausea

Surgical resection