DSA03 - Pediatric GI Anomalies

Cleft Lip

Define Condition:

Abnormal gap at upper lip

-Hx: Present at birth

-Path: When these do not fuse at 5 weeks gestation

> Median nasal processes merge --> Intermaxillary process

> Intermaxillary process merges w/ maxillary prominence & lateral nasal process ==> Upper Lip

-Sx/PE:

> Unilateral or Bilateral Defect

> May be complete (extends up to nostril) OR incomplete (extends only part way to nostril)

-Dx:

> Routine Prenatal Ultrasounds (20 weeks)

> Seen upon birth

-Tx: SURGERY

> Cut tissue near cleft and rearrange to close opening, then realign

-Prog: Can feed and develop normally

Cleft Palate

Define Condition:

Abnormal gap at roof of mouth

-Hx: Present at birth

-Path: When the primary palate (from intermaxillary process) & secondary palate (midline fusion of lateral palatine shelves from maxillary prominences) do not fuse normally by 8-12 weeks gestation

-Sx/PE:

> May be unilateral or bilateral

> May be complete (across whole palate) or incomplete (only part way across palate)

-Dx:

> Detected on first newborn PE after inserting finger into newborn's mouth (less on prenatal ultrasounds)

-Tx: SURGERY

> Cut and rearrange tissue around cleft to close opening

-Prog:

> Prevents from feeding (can't suction)

> Abnormal speech sounds

> Recurrent middle ear infex and effusions ==> HEARING LOSS

Cleft Lip; Cleft Palate

(Cleft Lip/Cleft Palate) is twice as common as (Cleft Lip/Cleft Palate)

Leads to underdeveloped or missing pharynx --> Nasopharyngeal portion of eustachian tube can't open ==> middle ear can't drain

How does a Cleft Palate make a newborn more susceptible to Recurrent middle ear infections?

Infantile Hypertrophic Pyloric Stenosis (IHPS)

Define Condition:

Narrowed opening between stomach and duodenum

-Hx:

> Seen in INFANTS btwn 2 weeks and 6 weeks (MC in Firstborn children)

> MORE in MALES

-Path: D/t hypertrophy of pylorus --> near-complete obstruction of gastric outlet

> Genetics

> MATERNAL SMOKING

> When babies Txed w/ Erythromycin or Azithromycin

-Sx:

> PROJECTILE & FORCEFUL VOMITING

> Want to be fed RIGHT after vomiting (Hungry Vomiters)

> Dehydration & Wt Loss (if Untreated)

-PE:

> "Olive-like" Abdominal Mass in RUQ

> Peristaltic waves from left to right in abdomen (stomach trying to squeeze contents past obstruction)

> Dehydration (Dry mucous membranes, can't cry, diminished pulses)

> Low Wt/Thin

> WON'T Have Abdominal Distension OR High-Pitched Bowel Sounds

-Dx:

> 1st = Abdominal US

> Labs (if later)

>> Hypochloremia

>> Metabolic alkalosis

>> Hypokalemia (from volume depletion, since RAAS activated)

-Tx:

> 1st = CORRECT DEHYDRATION/ELECTROLYTE ABNS w/ IV FLUID

> Pyloromyotomy = Incision made to outer aspect of pylorus muscle --> inner portion bulges outward to relieve obstruction

Small Intestinal Atresia

Define Condition:

Congenital discontinuity occurring in SI (segment of SI is absent/so narrow that nothing can pass through)

-Hx: Prenatal or First 2 days of life

-Path:

> 60% = Duodenum

>> D/t failure of GI tract to "recanalize" (open up) during embryologic development during 8-10 weeks of gestation

> 20% = Jejunum/Ileum

>> D/t interruption of SI's vascular supply during fetal life (something preventing blood from fetus' distal SI)

-Sx/PE: If not seen on US

> BILIOUS EMESIS (obstruction DISTAL to Ampulla of Vater)

> Abdominal Distension

> Inability to pass meconium

-Dx:

> Routine Prenatal US (May also see Polyhydramnios b/c can't swallow amniotic fluid)

> CXR

>> Duodenum = Double Bubble Sign (distension of two anatomic locations proximal to obstruction = stomach & proximal duodenum)

>> Jejunal/Ileal = Dilated loops of small bowel with air-fluid levels

> Contrast Radiography/Fluoroscopy

>> Contrast will cease to flow once it reaches the site

-Tx: SURGERY

> Take two healthy ends of tract and connect them to each other (Duodeno-duodennostomy = duodenum connect to another portion of duodenum)

Annular (Ring-Shaped) Pancreas

Define Condition:

Congenital malformation in which Pancreas wraps circumferentially around descending portion of Duodenum

-Hx: First Few months of life

-Path: When ventral bud fails to rotate around GI tract (remains on OPPOSITE side from dorsal bud) --> fuse together AROUND duodenum

-Sx/PE:

> 2/3 = Asx (ring isn't causing enough narrowing to obstruct)

> 1/3 = DUODENAL OBSTRUCTION

>> NONBILIOUS Vomiting (obstruction is PROXIMAL to Ampulla of Vater)

>> Feeding Intolerance

>> Abdominal Distension

-Dx:

> CXR = Double Bubble Sign (distension of stomach and proximal duodenum)

> Upper GI Series (shows contrast material can't pass beyond duodenum)

> Fluoroscopy

> Abdominal CT or MRI (DEFINITE)

-Tx:

> If SBO = CORRECTIVE SURGERY (Duodeno-Duodenostomy)

>> Cut duodenum in two locations (one above obstruction, one below obstruction)

>> Connect proximal duodenum to distal duodenum in a route that bypasses pancreas

Malrotation

Define Condition:

Congenital anatomic abnormality in which SI and LI are abnormally located in abdominal cavity

-Path: Intestines DO NOT rotate in counterclockwise direction during embryological development

> Duodenum compressed by fibrous attachment tissue

> Minimal attachment of intestines to posterior abdominal wall

> Cecum in RUQ (instead of RLQ)

-Sx/PE:

> Asx

> Abdominal Discomfort

> Vomiting (Bilious or Nonbilious, depending on obstruction location)

> Poor Feeding

> Poor Weight Gain

-Dx:

> Routine Prenatal US

Midgut Volvulus

Define Condition:

When SI wraps around SMA

-Hx:

> MALROTATION (30%) --> babies in first months of life

-Path:

> SI squeezes SMA --> cuts off blood supply to SI and LI

> Coiling of SI (d/t poor attachment to posterior abdominal wall) ==> Bowel Obstruction

-Sx/PE:

> Sx of Malrotation

>> Asx

>> Abdominal Discomfort

>> Vomiting (Bilious or Nonbilious, depending on obstruction location)

>> Poor Feeding

>> Poor Weight Gain

> Ischemia

>> Severe & SUDDEN Pain

>> Bloody Stool

>> CV Issues (tachycardia, hypotension, sepsis)

-Dx:

> Ultrasounds (risk of false negatives)

> Upper GI Series (more accurate)

-Tx:

> Manual Detorsion (Untwist) of SI

> Cut fibrous connection between posterior abdominal wall and duodenum

> Reposition intestines to prevent Volvulus

Intussusception

Define Condition:

One portion of intestine slides inside adjacent part of intestine (telescopes)

-Hx:

> 3 mos to 3 y/o

> ACUTE VIRAL INFEX

-Path:

> Acute Virus = Enlargement of Peyer's patches/lymphatic tissue in intestines

> 90% = ILEOCECAL JUNCTION!!

-Sx:

> EPISODIC severe abdominal pain (inconsolable during, "pull legs towards chest") - last 15 to 20 mins

> BILIOUS VOMITING

> 20% = Bloody stool (red currant jelly stool) = GI blood + sloughed mucosal cells

-PE:

> SAUSAGE (tube)-shaped abdominal mass (90%) d/t being at Ileocecal Junction

> Lead Point (10%) = mass w/n lumen of intestine (like polyp/tumor/diverticulum); may move forward with peristalsis OR will move part of intestine with it if attached

-Dx:

> US = Target Sign/Bull's Eye Sign/Donut Sign/Coiled Spring Sign (one segment of bowel w/n another segment)

> Contrast (Barium) Enema

-Tx:

> Therapeutic Enema

>> Tube in rectum --> Air/Saline/Contrast forced in to "un-telescopes" in intestines

> Abdominal Surgery (if enema fails)

Meckel's Diverticulum

Define Condition:

Congenital outpouching of SI in ILEUM (w/n 2 feet of ileocecal valve)

-Hx:

> MC Congenital Anomaly of GI tract

> More common in Males

> W/n first 2 years of life

-Path: Remnant of vitelline duct (omphalomesenteric duct - connects midgut to yolk sac)

> DOESN'T Obliterate at Week 7 of Gestation

-Sx/PE:

> MOST (95%) as Asx

If contains Ectopic gastric tissue (w/n 1st 2 years of life)

> PAINLESS DARK RED GI BLEEDING (d/t injury of ileal mucosa from gastric acid)

> "Lead Point" of intestines (if found, will see Sx of Intussusception)

-Dx: Meckel Radionuclide Scan

> Radiotracer (99m Technetium pertechnetate) administered via IV

> Tracer taken up by gastric mucosal cells --> Gamma camera used to detect tracer ==> Tracer detected in SI if it contains ectopic gastric tissue

-Tx:

> Asx = None

> Sx = Cut out (Diverticulotomy)

Hirschprung Disease (Congenital Aganglionic Megacolon)

Define Condition:

Congenital GI disorder in which certain nerve cells are missing from distal colon --> Failure of Peristalsis

-Hx:

> From BIRTH

> More in MALES

> 10% = Down Syndrome

-Path:

> Failure of neural crest cells (precursors to enteric ganglion cells) to migrate completely during embryologic intestinal development

> Enteric Ganglion cells ABSENT from distal colon ==> Intestinal Wall can't relax (functional bowel obstruction)

-Sx/PE:

> LIFELONG CONSTIPATION (can't pass meconium w/n first 48 hrs of life)

>> May not be Dxed until 7-1o y/o if length of aganglionic segment of bowel is short (MILD Constipation)

> Abdominal Distension

> Bilious Vomiting

-Dx:

> Contrast Enema

>> Bowel segment just proximal to affected area will be dilated

>> May result in FALSE NEGATIVES

> Anorectal Manometry

>> Pressure sensor inserted into rectum to measure contraction strength --> inability for affected to relax

>> May result in FALSE POSITIVES

> Rectal biopsy

>> GOLD STANDARD, but invasive

>> Instrument inserted into rectum (tip has blade to collect small sample of intestinal wall --> suction force withdraws tissue)

>> No ganglion cells = CONFIRMS

-Tx: CUT OUT AGANGLIONIC SEGMENT --> Proximal segment surgically connected to distal rectum

Gastroschisis

Define Condition:

Congenital defect with hole in abdominal wall LATERAL TO UMBILICUS --> extrusion of abdominal contents to the RIGHT side

-Hx:

> PRENATAL

> No underlying genetic syndrome

-Path: Failure of the two lateral folds at 6 weeks gestation to fuse in the midline may result in an abdominal wall defect

-Sx/PE:

> Malrotation

> Atresia

> Obstruction

> Perforation

-Dx: ROUTINE PRENATAL US @ 20 wks gestation

-Tx: Surgery to push contents back into cavity & close cavity + Treat other issues

Omphalocele

Define Condition:

Congenital defect with hole in abdominal wall AT THE BASE OF THE UMBILICUS --> Umbilical cord inserts at apex of membrane ==> extrusion of MEMBRANE COVERED abdominal contents (but membrane may rupture during fetal life)

-Hx:

> PRENATAL

> Underlying genetic syndrome (Aneuploidy - trisomy 18, trisomy 13, trisomy 21, Turner syndrome)

-Path:

> Failure of developing gut to returns to its cavity after 12 weeks of gestation

> Failure of lateral fold closure

-Sx/PE:

> OTHER anatomic defects in other organ systems (Ex: Cardiac, GU, CNS)

> Malrotation

> Atresia

> Obstruction

> Perforation

-Dx: ROUTINE PRENATAL US @ 20 wks gestation

-Tx: Surgery to push contents back into cavity & close cavity + Treat other issues

Tracheoesophageal Fistula (TEF)

Define Condition:

Congenital anatomic abnormality in which there is a connection between the trachea and the esophagus

-Hx: AFTER BIRTH (first few days of life)

-Path:

> 85% = Esophageal Atresia + Distal TEF

> 4% = Pure TEF (H-Type)

-Sx/PE:

BOTH: (VACTERL) - 50% of pts have one or more of these:

> Vertebral Anomalies

> Anal Atresia

> Cardiac Malformations

> TEF

> Renal Anomalies

> Limb Defects (radius and/or thumb)

Esophageal Atresia (d/t EXTREMELY short GI tract)

> Choking

> Drooling

> Inability to Feed

> Abdominal Distension (stomach & intestines filled with air)

> Gastric Acid Reflux (may cause Aspiration Pneumonia & Respiratory Difficulties)

Pure TEF (H Type)

> Milk/Formula/Gastric Secretions move into Trachea ==> Coughing, Choking, Resp Distress, Aspiration Pneumonia

> BURPING (Gas moves easily through INTACT esophagus)

-Dx:

Esophageal Atresia (d/t EXTREMELY short GI tract)

> Prenatal Ultrasound

>> Esophageal Atresia = POLYHYDRAMNIOS

> CXR & Catheter

>> Coiling = atresia of Esophagus

> Plain CXR

>> Esophageal Atresia + Gas-filled GI Tract = EA-TEF

Pure TEF (H Type)

> Water-soluble contrast study

> Endoscopy/Bronchoscopy

-Tx:

> Pure TEF = Opening in esophagus and trachea sewn closed

> EA-TEF = Esophageal segments surgically connected to each other