DEVELOPMENT AND

CONGENITAL ANOMALIES OF GIT

- Dr.Apoorva.E

PG,DCMS

DEVELOPMENT OF GIT

Liver

Urorectal septum

CONGENITAL ANOMALIES OF GIT

CLEFT LIP

• Hypoplasia of mesenchyme -> failure of fusion of medial nasal and maxillary processes

• Incidence - 1 in 750

• M>F

• Sporadic/genetic

• Maternal smoking/alcohol/anticonvulsants/antihypertensives

• Small notch in the vermilion border to complete separation involving skin,muscle,mucosa.

• Unilateral/bilateral

CLEFT PALATE

• Failure of palatal shelves to fuse

• Incidence – 1 in 2500

• Isolated or in addition to cleft lip

• Involving only uvula/soft and hard palates

• Unilateral / bilateral

• Recurrent otitis media,subsequent hearing loss,misarticulated speech

Cleft lip Mx :

• Problem with feeding

• Treatment – by team approach

• Surgical closure by 3mths of age,when infant has achieved sufficient weight gain,and is free of oral/respiratory/systemic infection

• Modified Millard rotation advancement technique

• Revised repair may be required at 4-5yrs of age

Cleft palate Mx :

• Correction depends on degree of deformity,adequacy of existing palatal segments

• Surgery - with a goal of uniting cleft segments,comprehensible speech,reduction of nasal regurgitation

• Usually performed before 1 yr of age

• Associated missing/malformed teeth replaced by prostheses

CLEFT PALATE

CLEFT LIP

ESOPHAGEAL ATRESIA and TEF

• Esophageal atresia is the M/C congenital anomaly of esophagus

• >90 % have associated TEF

• Most common type – upper esophagus ending in a blind pouch and TEF connected to distal esophagus

• TYPES :

• Advanced maternal age,smoking,lowsocioeconomic status

• Sporadic/genetic

• 50 % are a part of syndromes

( VACTERL/CHARGE/VEINGOLD)

• Present with frothing and bubbling at mouth and nose

• Recurrent pneumonias due to regurgitation and aspiration

• Dx by inability to pass an NG tube (coiled tube on XRAY)

• Plain Xray showing airless scaphoid abdomen if no TEF / air distended stomach if TEF +

• Orifice seen on bronchoscopy / endoscopy

• Mx : prone positioning, esophageal suctioning

to prevent aspiration of secretions

• Definitive Rx by surgical ligation of TEF and end to end anastomosis of esophagus

• If gap between ends

>3-4cms,gastric/jejunal/colonic segment as neoesophagus

• If LBW, gastrostomy tube placement

HYPERTROPHIC PYLORIC STENOSIS

• Incidence of 1-3/1000

• First born males ++

• Blood groups O and B

• >> risk if maternal h/o pyloric stenosis and maternal intake of macrolides

• Asso with apert / zellweger syndromes

• At around 3 weeks of age,present with non bilious vomiting following feeding

• Loss of fluid,H+ ions and Cl- ions

Hypochloremic metabolic alkalosis

Severe dehydration,chronic malnutrition

• Ictero-pyloric syndrome -> associated with unconjugated hyperbilirubinemia

• Dx : palpable olive shaped,firm,movablemass,located above and to right of umbilicus(mid epigastrium),after vomiting

• Visible gastric peristaltic wave across abdomen

• Confirmed by USG (>> length,>>thickness of wall,<< luminal diameter)

• Contrast shows string sign,shoulder sign,doubletract sign

• Rx : Correct fluid electrolyte acidbase imbalance

Ramstedt ‘s pyloromyotomy

Endoscopic balloon dilatation

Atropine

HIATAL HERNIA

• Herniation of upper part of stomach through esophageal hiatus

• C/F : early satiety,upper abdominal pain

• Dx : by contrast studies,endoscopy

• Mx : Medical treatment of gastro esophageal reflux

Nissen’s fundoplication

DUODENAL ATRESIA

• Most common cause of congenital duodenal obstruction

• Most common among all intestinal atresias

• Incidence of 1 in 10000 live births

• Failure of recanalization of intestinal lumen

• Asso with preterm delivery and polyhydramnios

• Trisomy 21 in 1/3rd of patients

• TYPES :

Membrane near ampulla of Vater

• 30 % have concomitant anomalies like CHD,malrotation,annular pancreas etc

• Present on 1st day of life with bilious vomiting

• Peristaltic wave may be seen

• Jaundice in 1/3rd

• Plain X Ray abdomen shows ‘double bubble sign’

• Prenatal diagnosis by fetal sonographic double bubble

• Mx : Nasogastric decompression

Correct fluid and electrolyte imbalance

Definitive Rx by duodenoduodenostomy

MECKEL DIVERTICULUM• Most common congenital GI anomaly

• Remnant of omphalomesenteric duct

• Initially connects the yolksac with the intestine

• Attenuates and separates by 7th week POG

• Rule of 2 –

2% of all infants

2nd year of life presentation

2% of those are symptomatic

2 inches long

2 feet proximal to ileocaecal valve (along the antimesenteric border)

• Majority have an ectopic mucosa

(acid secreting gastric mucosa M/C)

-> ulceration -> painless rectal bleeding (malena / brick colored stool)

• Other complications : Intussusception,volvulus,obstruction,diverticulitis, perforation, peritonitis

• Dx : Technetium-99m pertechnate scan,USG,CT

• Rx : surgical excision

HIRSCHSPRUNG DISEASE

• Congenital aganglionic megacolon

• Most common cause of lower GI obstruction in neonates (1 in 5000)

• Developmental disorder of enteric nervous system

• Absence of ganglion cells in the submucosal and myenteric plexus

• Sporadic/genetic,associated with Down etc

• Not seen in preterm infants

• Short segment (80%) or long segment

• Present with failure to pass meconium,distended abdomen,sometimesbilious vomiting

• Older children present with chronic constipation since infancy,not responding to medical Rx

• Cannot propel faeces out -> proximal segment dilated -> stasis -> enterocolitis,sepsis

• Compression leading to urinary retention and hydronephrosis

• Faecal mass palpable in left lower abdomen

• Empty rectum on PR

• Dx by rectal biopsy (gold standard)

• >> acetylcholinesterase on staining

• Anorectal manometry,Contrast studies

• Rx – surgical

1. SWENSON – excise and anastomose

2. DUHAMEL – bringing down normal segment behind aganglionic segment (neorectum)

3. SOAVE – stripping the mucosa of abnormal segment and bypassing the abnormal bowel from within

NONROTATION/MALROTATION

• Failure of bowel to rotate after it returns to the abdominal cavity

• Asso with diaphragmatic hernia,omphalocoele,gastroschisis

• Small intestine (except 1st and 2nd parts of duo) occupies the right side of abdomen,colon on the left side

• M/C is when caecum fails to move to right lower quadrant

• Bands of tissue called LADD BANDS connecting caecum to right upper quadrant ->cross duodenum and cause obstruction,can produce volvulus (around SMA)

• 50 % present within 1st month of life,rest within 1st year

• With bilious vomiting,tender abdomen

• Bacterial overgrowth can later lead to malabsorption

• Contrast studies are diagnostic

• USG shows inversion of SMA and vein (vein on left of artery)

• Rx : surgery- reduction of volvulus,bandsdissected

GERD

• Passage of gastric contents into esophagus with/without regurgitation,vomiting

• Normal physiologic phenomenon- but if causing troublesome symptoms -> GERD

• >> risk : obesity,repaired esophageal atresia,cystic fibrosis,hiatalhernia,preterms,CP and family history +

• Present with :

recurrent regurgitation with/without vomiting

poor weight gain or weight loss

irritability

heart burn in older children

hematemesis,dysphagia and odynophagia(esophagitis)

• Dx :

Detailed history

24hr esophageal ph monitoring

24hr combined intraluminal impedance &pH monitoring

Upper gi endoscopy (esophagitis/barrett’s/strictures)

Contrast studies to rule out other causes of obstruction

Gastric emptying (GE) scintigraphy (milk scan) –

radiolabelled milk ingested and series of images recorded up to 60 minutes after ingestion.Todiagnose and quantiate reflux and gastric emptying time.Images showing isotope in the lungs indicate pulmonary aspiration.

• Mx : Depends on severity of symptoms,responseto pharmacologic therapy

• Left lateral position with head end elevation by 30 deg postprandially

• Formula fed infants given extensively hydrolyzed protein formula

• Add thickening agents like rice cereal to formula

• >> energy density of formula to promote weight gain

• Avoiding caffeine,chocolate,spicy foods

• Pharmacologic therapies : buffer/suppress acid secretion

• H2 receptor blockers – ranitidine

• PPI – omeprazole (0.7-3-3mg/kg/day)

lansoprazole(0.6-1.6mg/kg/day)

esomeprazole(<20kg - 5 to 10mg,

>20kg - 10 to 20 mg od)

2 to 4 weeks

3months if endoscopically diagnosed reflux +

A/E include headache,diarrhoea,nausea,constipation

• ? Prokinetics – metoclopramide,domperidoneetc

• Surgery – Fundoplication (>>LES tone)

ACHALASIA CARDIA

THANK YOU