41. Congenital anomalies of the GIT, liver and pancreas. Flashcards
What are the congenital anomalies of the GIT
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
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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
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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
What are the different types of esophageal atresia?
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
What are the clinical features of esophageal atresia?
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
Diagnosis of esophageal atresia?
Feeding tube cannot pass through
X Ray
A-B- gasless abdomen
Esophageal pouch
C- D
large gastric bubble
Esophageal pouch
E
Large gastric bubble
Treatment for esophageal atresia
Nasoesophageal tube for continuous suction - prevent aspiration abs facilitate breathing
Left lateral decubitus position
Prophylactic antibiotics- case aspiration pneumonia
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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
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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
Complication of esophageal atresia
Dysphagia l
GERD
Anastomotic stenosis
What are the characteristics of intestinal atresia
Usually is seen with babies small for gestational age
Down syndrome!!!
Vascular incident in utero- non duodenal - (SMA occluded)
Can be familial
Clinical features of intestinal atresia?
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
Diagnosis of intestinal atresia
Seen usually before birth - ultrasound- dilated intestinal segment due to blockage and polyhydroaminos
Infants
Xray
Ultrasound
Treatment of intestinal atresia
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
Complication of intestinal atresia
Pseudo- obstruction at surgery site due to Pre-existing intestinal dysmotility
If atresia not treated - perforation/ ischemia- abdominal tenderness and meconium peritonitis
Etiology Of hirschsprung disease
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
Where due hirschsprung disease most commonly affect?
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
Clinical features of hirschsprung disease
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
Diagnosis for hirshprung disease
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
Treatment of hirschsprung disease?
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
What are the complications of hirschsprung disease
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
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Fecal incontinence
Urinary dysfunction
Erectile dysfunction
Peritonitis due to perforation
Etiology Of omphalocele?
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
Diagnosis of omphalocele?
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)
Treatment of omphalocele?
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
Symptoms of choledochal cysts
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
Diagnosis of choledochal cysts
Ultrasound
CT
ERCP(in older)
MRI
Types of choledochal cyst
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
Treatment of choledochal cysts
Laparoscopic Surgical excision of cyst and anastomosis of hepaticojejunostomy
Choledochojejunostomy to the biliary duct
Complications of choledochal cyst
Cholangitis
Malignancy
What is the clinical manifestation of biliary atresia
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
Diagnosis of biliary atresia?
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
Treatment for biliary atresia
Kasai procedure - connection created between the liver and small intestines
If Liver cirrhosis - liver transplant
Complication for biliary atresia
Early biliary cirrhosis secondary sclerosis cholangitis
Post operative - cholangitis
Portal hypertension
Clinical features Of Pancreas divisum -
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
Diagnosis of pancreas divisum?
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
What is the treatment for pancreatic divisum
Non operative - pancreatic enzyme supplements
Low fat
Minor papillectomy
Minor papilla stenting
Balloon dilation of any strictures
Meckel diverticulum
Usually asymptomatic Symptoms Abdominal pain Painless gastrointestinal bleeding Hematochezia- bright red fresh blood Tarry stool- slow hermitage Current Jelly - intussusception Nausea
Surgical resection
