development of git and congenital anomalies of git
TRANSCRIPT
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