Gastrointestinal TractGastrointestinal Tract

Dr.CSBR.Prasad, M.D.,

Painful ulcers – what is your Dx?

What is your diagnosis?

What is your diagnosis?

Congenital anomaliesCongenital anomalies

Case

• New born with regurgitation during feeding or • New born with cough and regurgitation during

feeding• Happens every time when the mother tries to

feed the child

Diagnosis

• Congenital esophageal atresia

• Absence or agenesis of esophagus is very rare• Atresia is more common• There are different types

Esophageal atresia

Esophageal atresia

Case

• New born baby - not passed meconium since two days

• Bloating of the abdomen

Diagnosis

• Imperforate anus

Imperforate anus

Imperforate anus

• Most common form of congential intestinal atresia

• Due to failure of cloacal diaphragm to involute

Case

• 4yo male child with complains of on/off pain abdomen since 2years

• Pain located around the umbilicus• Not associated with vomiting / diarrhea• No tenderness at Mc Burney’s point• Diagnosed as appendicitis and was operated

without much relief

Diagnosis

• Meckel’s diverticulitis

Meckel's Diverticulum• Due to failed involution of vitelline duct, which

connects the lumen of the developing gut to the yolk sac

• Number: Solitary• Location: Antimesenteric border of the ielum• Ectopic tissue: Gastric mucosa / Pancreatic tissue• Have all the layers of the small intestine – may

resemble small intestine histologically• May be the site for peptic ulceration and bleeding

Meckel's Diverticulum

Rule of ‘2s’

• 2% of population• 2 inches in length• With in 2 feet from the ileocecal valve• 2x more common in males• Symptomatic by the age of 2 years

Same Case – with a twist

• 4yo male child with complains of on/off pain abdomen since 2years

• Pain located around the umbilicus• Not associated with vomiting / diarrhea• Food intake precipitates pain• Lost weight because of anticipation of pain• No tenderness at Mc Burney’s point• Diagnosed as appendicitis and was operated

without much relief Meckel’s diverticulum peptic ulcer due to ectopic

gastric mucosa

Another Case

• 25yo male patient complains of passing fresh blood in stool (Hematochezia)

• H/O on / off pain abdomen since 5years• Not associated with vomiting / diarrhea• Food intake precipitates pain• He has no hemorrhoides / no h/o constipation

Meckel’s diverticulum with bleeding peptic ulcer due to ectopic gastric mucosa

What are the causes for hematochezia?

• Zollinger-Ellison syndrome (Ulcers in jejunum, ileum)

• Angiodysplasia of colon• Hemorrhoides• Anal fissure / Constipation• Meckel’s divericulum

Case

• 3 week old Child with history of vomitings• Child was well for two weeks• Vomiting – Projectile• Mother noticed moving swelling in the upper

abdomen which passes from right to left• Loss of weight

CONGENITAL HYPERTROPHIC PYLORIC STENOSIS

Projectile vomiting

Visible gastric hyperperistalsis

• 300-900 live births• Genetic basis: – High concordance in monozygotic twins– Turner’s syndrome– Trisomy 18

• Presents 2-3week of life• Persistant projectile / nonbilious vomting• O/E freely mobile ovoid abdominal mass

Pathophysiology

• Progressive hypertrophy of the circular muscles in the pyloric sphincter

• Duodenum is normal• Not present at birth but occurs over 3 to 5

weeks

Causes for pyloric stenosis in adults?

• Antral gastritis• Peptic ulcer close to pylorus• Carcinoma of distal stomach• Carcinoma of head of pancreas• Rarely annular pancreas (encircling the

duodenum)

Ventral wall defects

• Omphalocele • Gastroschisis

Omphalocele

Omphalocele

• Abdominal musculature is incomplete• Abdominal viscera herniate into ventral

membranous sac

Gastroschisis

Gastroschisis

• Similar to omphalocele except that it involves all the layers of the abdominal wall – from the peritoneum to the skin

Case

• Home delivered baby with a h/o passage of meconium on the third day

• Mother noticed progressive distension of the abdomen and

• Baby recently started vomiting

Air fluid levels

What is your diagnosis?

• Hirschsprung’s disease

• Occasionally presents with chronic constipation in infancy

• Accounts for 10% of neonatal intestinal obstruction

• Child is at increased risk of enterocolitis and perforation

• 1 in 5000 live births• May occur:– In isolation or – In combination with:

• Down’s syndrome (10% of all cases)• Other serious neurological abnormalities (5% of all cases)

• Clinical presentations:– Failure to pass meconium in 48hours– Chronic constipation

Abdominal distension, one of the common clinical

presentations of Hirschsprung's disease

Failure to pass meconium in the

first 48 hours of life or

chronic constipation is one of the

common clinical presentations of Hirschsprung's

disease

Pathogenesis:During normal development:During normal development:•Neural crest cells migrate in the intestine from ceacum to rectum•They form Aurbach (Myentric plexus) and Meissner’s plexus (Submocosal)In Hirschsprung’s disease:In Hirschsprung’s disease:•This migration gets arrested prematurely• This produces aganglionic segment distally• Coordinated peristaltic contractions are absent• Functional abstraction• Dilatation of proximal normal segment

Why this defect in migration:• Loss of heterozygosity in Receptor tyrosine kinase RET• Most of the familial cases• 15% of sporadic cases

• Mutations of genes of the protein involved in enteric neurodevelopment: (30% of cases)• Neurotrophic factor derived from RET• Endothelin• Endothelin receptor

• Modifying genes and other environmental factors• Sex: males are mostly affected, however, disease is

more extensive in females

Diagnosis:• By demonstrating the absence of ganglion cells in the

affected segment• Suction rectal biopsy to demonstrate absence of

submucosal Meissner’s plexus• IHC for AcetylcholinestraseSite of biopsy:• Rectum is always affected (hence preferred and also

easily accessible)• Length of involved segment varies widely• Intraoperative frozen section to identify the proximal

uninvolved level

Transition zone

Barium enema showed contracted diseased segment (thick arrow), dilatation of normal bowel segment (thin arrow) and the

transitional zone (TZ)

IHC - Acetylcholinesterase

Complications:

• Megacolon (upto 20cms in diameter)• Rupture (most common: ceacum)• Mucosal ulcers• Enterocolitis (Major threat to life)• Fluid and electrolyte disturbances

Toxic megacolon

Enterocolitis:

Acquired causes for megacolon:

• Chaga’s disease (of all the following, only this disease is associated with loss of ganglion cells)

• Obstruction by neoplasm• Inflammatory strictures• Toxic megacolon– Ulcerative colitis– Visceral myopathy– Psychosomatic disorders

END