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32 Cards in this Set
- Front
- Back
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GI System- Pediatrics with Martin and Ryan
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GI System- Pediatrics with Martin and Ryan
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A congenital defect characterized by incomplete closure of the abdominal wall with protrusion of the viscera
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Gastroschisis
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intact peritoneal sac covering the viscera (absent in gastroschisis)
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Omphalocele
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Duodenal atresia, Hirschprung dz
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Trisomy 21
You note upward slanted palpebral fissures and epicanthal folds, a flattened face, and a single simian crease on each of a newborn’s broad hands. |
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Trisomy 13—Patau syndrome
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Cleft lip (60-80%)
omphalocele |
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Trisomy 18—Edwards syndrome
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omphalocele
cleft palate/lip |
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Trisomy 21—Down syndrome
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duodenal atresia
hirschprung disease tracheoesophageal fistula |
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hischprung disease
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delayed passage of stool
seen commonly in trisomy 21 |
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bilious emesis
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bile stained emesis
no audible bowel sounds *Malrotation with volvulus duodenal atresia Bilious emesis is always abnormal and indicates obstruction DISTAL to the common bile duct insertion into the duodenum. |
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double bubble
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intestinal atresia
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Who doesn’t get bilious emesis?
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Esophageal atresia—obstruction is in the esophagus, sometimes with a fistula to the trachea
Pyloric stenosis—obstruction is at the stomach’s pylorus Biliary atresia—obliteration of the extrahepatic biliary tree Hirschprung disease—large bowel, incomplete obstruction |
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Colon polyps
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2 yr old
father had colectomy at age 20 multiple adenomas in the colon recommend genetic testing to determine his risk |
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What do we know about FAP?
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Autosomal dominant
Defect in the APC gene on chromosome 5q21 (tumor suppressor gene) Typically develop up to 2500 adenomas Onset as young as 8 years Presymptomatic testing available in association with genetic counseling. |
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persistent jaundice
pale gray stool liver function tests elevated HIDA demonstrates absence of excretion of tracer into the bowel |
Direct Hyperbilirubinemia
most likely dx is biliary atresia |
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biliary atresia
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bile can't get out
normal liver upstake, but absent excretion into the bowel |
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galactosemia
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hepatomegaly, cataracts, mental retardation
tx by removal of galactose feel with soy formula |
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eagerly eats and then vomits forcefully
small mass in the epigastrum on abdo exam |
projectile vomiting
most likely diagnosis is pyloric stenosis most likely abnormality on lab is metabolic alkalosis |
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Malabsorption:
poor weight gain, diarrhea, flatulence fatigue weight gain was fine while his diet consisted of breast milk and rice cereal |
celiac disease
can eat corn and rice cannot eat wheat, oat barley, rye *Impaired nutrient absorption which improves when gluten is removed from the diet |
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Full term, 5 day old AA girl brought to clinic because “her eyes are yellow”
Exclusively formula fed Urinating and stooling well Uncomplicated pregnancy, SVD Sclerae are icteric, no HSM Tbili is 9, Dbili is 0.2 Hb 15 g/dL most likely dx? |
physiologic jaundice. since they're babies their ducts are smaller
common causes of jaundice are -Bilirubin overproduction -Hepatitis -Obstruction of the flow of bile |
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Hepatic bile serves two major functions:
clinical findings |
the emulsification of dietary fat in the lumen of the gut through the detergent action of bile salts, and
the elimination of bilirubin, excess cholesterol, xenobiotics, and other waste products that are insufficiently water-soluble to be excreted into urine clinical findings: Alterations of bile formation become clinically evident as yellow discoloration of the skin and sclera (jaundice and icterus) |
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Pathophysiology of Jaundice
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Both unconjugated bilirubin & conjugated bilirubin (bilirubin glucuronides) may accumulate systemically.
Unconjugated bilirubin is virtually insoluble in water at physiologic pH and exists in tight complexes with serum albumin. -This form cannot be excreted in the urine even when blood levels are high. Conjugated bilirubin is water-soluble, nontoxic, and only loosely bound to albumin. -Because of its solubility and weak association with albumin, excess conjugated bilirubin in plasma can be excreted in urine. Two conditions result from specific defects in hepatocellular bilirubin metabolism |
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Neonatal Jaundice
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Because the hepatic machinery for conjugating and excreting bilirubin does not fully mature until about 2 weeks of age, almost every newborn develops transient and mild unconjugated hyperbilirubinemia
This may be exacerbated by breastfeeding, as a result of the presence of bilirubin-deconjugating enzymes in breast milk. Nevertheless, sustained jaundice in the newborn is abnormal |
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Hereditary Hyperbilirubinemias:
multiple genetic mutations.. name 3 |
Crigler-Najjar syndrome types I and II,
Gilbert syndrome, Dubin-Johnson syndrome |
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Crigler-Najjar syndrome type I
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Hepatic UGT1A1 is completely absent
-Colorless bile contains only trace amounts of unconjugated bilirubin. The liver is morphologically normal by light and electron microscopy. However, serum unconjugated bilirubin reaches very high levels, producing severe jaundice and icterus. Without liver transplantation, this condition is invariably fatal, causing death secondary to kernicterus within 18 months of birth |
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Crigler-Najjar syndrome type II
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Less severe, nonfatal disorder in which UGT1A1 enzyme activity is greatly reduced
-Enzyme is capable of forming only monoglucuronidated bilirubin. Unlike type I, the only major consequence is extraordinarily yellow skin. Phenobarbital treatment can improve bilirubin glucuronidation by inducing hypertrophy of the hepatocellular endoplasmic reticulum |
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Gilbert Syndrome
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Relatively common, benign, inherited condition presenting with mild, fluctuating hyperbilirubinemia, in the absence of hemolysis or liver disease
Affects 3% to 10% of the U.S. population Hepatic bilirubin-glucuronidating activity is about 30% of normal, a less severe reduction than in Crigler-Najjar syndromes Mild hyperbilirubinemia may go undiscovered for years and is not associated with functional derangements. -Typically in association with stress, such as an intercurrent illness, strenuous exercise, or fasting. Gilbert syndrome itself has no clinical consequence. |
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Dubin-Johnson syndrome
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Autosomal recessive disorder characterized by chronic CONJUGATED hyperbilirubinemia.
Caused by a defect in hepatocellular excretion of bilirubin glucuronides across the canalicular membrane. The liver is darkly pigmented because of coarse pigmented granules within the cytoplasm of hepatocytes. Apart from chronic or recurrent jaundice of fluctuating intensity, most patients are asymptomatic and have a normal life expectancy. |
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Premature neonate in NICU
DOL6 noted lethargic and mild resp distress HR: 162, BP: 55/38, RR: 56 Distended abdomen and heme + stools X-ray reveals gas bubbles within the bowel wall most likely diagnosis? |
Necrotizing Enterocolitis (it's baaaaaaaaaad):
Inflammatory lesion of the bowel, characterized by: -Abdominal distension -Feeding difficulties -GI bleeding Can progress to intestinal gangrene with perforation and/or peritonitis Most cases have no identifiable infectious etiology -Associated with early feedings |
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classic xray finding of necrotizing enterocolitis?
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Usually presents in the first 2 weeks of life, usually in VLBW infants/premies
-*Abdominal distension appears first -*Bloody stools in 25% of cases Classic x-ray finding – **pneumatosis intestinalis -aka – air in the wall of the bowel Occasionally, can see air in the hepatic portal system <That’s Bad> |
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3 week old with progressive vomiting and diarrhea
Irritable, afebrile, no cough or rash Skin is pale, membranes are dry Abdomen is normal, Stool heme positive AXR shows no free air or pneumotosis intestinalis dx? |
Milk-Protein Enterocolitis:
-All routine newborn formulas have cow’s milk as a base, and infants can develop an allergic response to the antigens -Not lactose intolerance (**Casein & whey intolerance) -Symptoms usually present in 1st four months of life -50-60% will also have a soy allergy Symptoms to look for: Diarrhea, Heme + stools, Vomiting/Reflux, Rashes, Respiratory Symptoms, Systemic Symptoms Treatment: Elimination of milk proteins until age 1-2 years when it can be re-introduced -Elemental Formulas: Alimentum/Nutramigen (among others) |
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2 yo brought to ER, Had been well until 3 days ago, developed fever & nasal congestion; Dx with ROM, started on Augmentin
Started c/o abdominal pain this AM -Intermittent, occurring q20 min -Episodes worsening and lasting longer Has an episode of nonbloody, nonbilious emesis followed by passage of blood & mucus stained stools Stable in NAD, vitals wnl Firm, sausage-shaped mass palpated in the RUQ Rectal exam reveals bloody mucus; No skin lesions or rashes dx? |
Intussusception:
-Most common cause of intestinal obstruction in children between 3 mos and 6 yrs of age. -Male are affected 4x as often as females. -Occurs when a portion of the intestine folds like a telescope, with one segment slipping inside another segment (leading point) The cause is not known; Occurs in 1 out of every 250-1,000 infants & children. Diagnosed with enemas -May be diagnostic & therapeutic; May use air or barium If the intestine is torn or if an enema is unsuccessful in correcting the problem, surgery is necessary. -Free the portion of the intestine that is trapped, clear the obstruction and, if necessary, remove any of the intestinal tissue that has died. In some cases, it may be temporary and improve on its own without treatment. |
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buzz words for Intussusception
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-currant jelly stools
-things that causes a lead point (crohns inflames and creates a stricture) |
