Pediatrics GI PDF

PED IATRIC GI MARIAM FAHIM, DO A S S O C I AT E P R O F E S S O R @ W E S T E R N U N I V E R S I T Y O F H E A LT H SCIENCES P E D I AT R I C I A N @ I N S C R I P T I O N S C H I L D R E N ' S C L I N I C ( I C C )  CONFLICT...

PED IATRIC GI MARIAM FAHIM, DO A S S O C I AT E P R O F E S S O R @ W E S T E R N U N I V E R S I T Y O F H E A LT H SCIENCES P E D I AT R I C I A N @ I N S C R I P T I O N S C H I L D R E N ' S C L I N I C ( I C C )  CONFLICT OF INTEREST DISCLOSURE Dr. Fahim has no conflicts of interest to disclose regarding industry relationships or products discussed during this presentation. https://complianceandethics.org/get-conflicts-interest-disclosures/ LEARNING OBJECTIVES Understanding causes of vomiting/emesis in infants and children Understanding the differences between Omphalocele and Gastroschisis Understanding the clinical presentation of Pyloric stenosis Understanding the clinical presentation of Duodenal Atresia Understanding the clinical presentation of Volvulus, Malrotation, and Intussusception Understanding Gastroesophageal Reflux Understanding Hyperbilirubinemia Understanding the clinical presentation of Necrotizing Enterocolitis in neonates Understanding the clinical presentation of Imperforate Anus and Hirschsprung’s Disease VOMITING IN INFANTS Most pathologic vomiting occurs early in life (hours to days) Causes of pathologic vomiting are largely anatomic and surgery is usually the definitive treatment Always consider head trauma (central cause of vomiting) in appropriate scenarios, such as child abuse What is normal? Small amount, non-projectile, non-bilious formula colored – “Spit up” in infants is NORMAL https://my.clevelandclinic.org/health/diseases/15850-small-bowel-obstruction  BILIOUS VS. NON-BILIOUS EMESIS B I L I O US E M ES I S Bilious emesis is green emesis because the problem is distal to Ampulla of Vater N O N - B I L I O US E M ES I S NEVER normal Non-bilious emesis is not green because Common causes: duodenal atresia, jejunal obstruction or problem is proximal to Ampulla atresia, Hirschsprung disease, of Vater malrotation/volvulus, annular pancreas, Persistent non-bilious vomiting is often related imperforate anus to the stomach or esophagus Common causes: pyloric stenosis, tracheoesophageal fistula; increased ICP (brain tumors, intracranial masses, chiari malformations) can also cause vomiting by causing impinging on area postrema of hypothalamus NOTE: Intussusception, the most common cause of intestinal obstruction in infants between 6 and 36 months of age, can cause either bilious or nonbilious emesis. It may begin as nonbilious and progress to bilious. VOMITING IN CHILDREN New onset of biliary emesis is rare in children since atresias, Hirschsprung’s disease, and malrotation/volvulus are diagnosed earlier in life If vomiting occurs in clusters, is sudden in onset and quick to resolve → likely viral gastroenteritis (vs. prolonged and severe illness in bacterial gastroenteritis) If vomiting occurs many hours after food intake → gastroparesis (vs. fast onset of vomiting/reflux in GERD) – Post viral gastroparesis – Secondary to surgery with CN X damage – Drug use: opioids, anticholinergics – Neuromuscular disorders like cerebral palsy, muscular dystrophy Vomiting often accompanies migraines. Migraines beginning before age 20 in 50% of cases. Vomiting may occur in appendicitis, after inflammation has established and pain has progressed to RLQ Adolescent female with early morning vomiting should be evaluated for pregnancy DKA is also a common cause of vomiting in children  OMPHALOCELE VS GASTROSCHISIS Omphalocele Gastroschisis Definition Abdominal viscera herniate through the Abdominal viscera herniate through the abdominal wall at the umbilicus abdominal wall paraumbilically (usually to the Contents are covered by hernia sac made of right- gastRoschisis) amniotic membrane and peritoneum Contents NOT covered by a hernia sac OmphaloSEALed by peritoneum Pathophysiology Failure of midgut to return to the abdominal Congenital malformation of anterior abdominal wall cavity after normal herniation during embryology Associations Trisomies (Trisomy 21,Trisomy 13) Rarely associated with additional anomalies Beckwith-Wiedemann syndrome Incidence nearly doubled the last 2 decades WIDEmann due to young maternal age mom, and use of drugs. Wide belly → omphalocele, Wilms tumor, Wide body → hemihyperplasia Wide tongue → macroglossia Cardiac and GI malformations https://health.ucdavis.edu/children/clinical_services/fetal-care-treatment-center/conditions/Gastroschisis.html  PYLORIC STENOSIS Pyloric sphincter abnormality with hypertrophy – Exact cause of hypertrophy is unknown, but one study suggests that neonatal hyperacidity may be involved in the pathogenesis Clinical features – 2-6 weeks after birth – Projectile non-bilious vomiting – “Olive”-shaped mass felt on palpated of abdomen, may see peristalsis – Abdomen NOT distended because some air can pass through the stenosed sphincter – Associated with Turner and Edwards syndrome Risk Factors: formula feeding (vs. NEC), Male (4x > Females), erythromycin use, nulliparity (first born son), also occurs 2-8 weeks post-iron poisoning. Diagnosis: Abdominal US Treatment: pyelomyotomy (surgery) Longitudinal plane through right upper quadrant. | Transverse plane through right upper Description: Longitudinal plane showing the elongated quadrant. | Description: Transverse https://www.123sonography.com/hypertrophic-pyloric-stenosis pylorus with thickened pyloric muscle, “CERVIX SIGN”. We mean the anteroposterior diameter and plane showing “TARGET SIGN” with thickened pyloric muscle. sTEnosis= Turner & Edwards https://www.medicowesome.com/2014/11/pyloric-stenosis-mnemonic.html https://almostadoctor.co.uk/encyclopedia/pyloric-stenosis? DUODENAL ATRESIA Failure of duodenum to recanalize in utero 30% of cases are associated with Down syndrome Clinical features – Intrauterine: polyhydramnios – Postpartum: bilious vomiting if distal to major duodenal papilla (Ampulla of Vater) – X-ray: double bubble sign, gasless distal bowel Treatment: surgery + fluid removal from stomach via nasogastric tube; give IV fluids Double Down: Down Syndrome has Double bubble sign of duodenal atresia BOARD QUESTION A 2 week old infant presents to the ER department with a 1 day hx of projectile vomiting and regurgitation. PE reveals visible peristalsis and a palpable oval abdominal mass. What other syndrome might be suspected in a neonate with this presentation? A- Down Syndrome B- Hirschrprung’s disease C- NEC D- Turner’s syndrome E- Zollinger-Ellison syndrome ANSWER The correct Answer is D- Turner syndrome Pyloric stenosis is associated with Turner’s and Edwards’ syndrome.  Normal intestinal rotation https://www.youtube.com/watch?v=vJA1A0v6Aa4 H T T P S : / / E M B R Y O L O G Y. M E D. U N S W. E D U. A U / E M B R Y O L O G Y/ I N D E X. P H P/ L E C T U R E _ - _ G A S T R O I N T E S T I N A L _ D E V E L O P M E N T MALROTATION AND VOLVULUS M A L ROTAT I O N VO LV U L US Incorrect alignment of intestines due to failure to Twisting of intestines around their blood supply that rotate during development, often causing can lead to ischemia mispositioning of ileocecal valve in RUQ rather Often a consequence of malrotation than RLQ. Presents with bilious emesis. Timing of presentation varies depending on the severity of any obstruction LADD bands Abdominal X-ray (always first step when bilious emesis is noted) may be normal, but upper GI Think of balloon animals series can show abrupt cutoff in GI tract *** Contrast enema can show abnormal positioning of cecum More than 50% of cases present in the first month of life, 30% in the first week  Barium enema. The cecum, ascending colon, transverse colon, and descending colon are found on the left side of the abdomen, consistent with non-rotation intestinal malrotation. H TTP : / / W WW. R EVI S TA G A S TR OEN TE R OL OGI A ME XI C O. OR G / EN - A C U TE - A P PEN D IC I TI S - I N- P A TI EN T- W IT H- AR TI CULO -S22 555 34X 173 007 50  INTUSSUSCEPTION Occurs when one part of the bowel telescopes into another – Ileoileal (ileum into distal ileum) is more indicative of Henoch Schnolein Purpura – Ileocecal (ileum through cecal valve into cecum) is more indicative of idiopathic intussusception- 90 % of cases in children Most common cause of bowel obstruction in kids 6 months – 36 month (3 yrs) Clinical features: – Abrupt onset of colicky abdominal pain in an otherwise healthy baby. Pain relieved by knee-chest position. – Currant jelly diarrhea – Sausage-shaped mass felt on physical exam Diagnosis:ultrasound ((Target SIGN) ** or air-contrast barium enema (also works as a cure) Thought to be related to Rotavirus vaccination → vaccine contraindicated in kids with intussusception  JOG YOUR MEMORY SLIDE Timeline approach AT birth/ pre-birth? Omphalocele Gastroschisis If you have a choice?! Progressive and later at 2-4 weeks?! Gastroschisis Pyloric stenosis Why? Bilious or nonbilious? No associated anomalies Nonbilious, proximal to ampulla of vater Mostly to the Right, not covered Associated with?! What about omphalocele? Turner and Edwards syndrome Trisomies 21, and 18, and Wideman syndrome. Olive shaped mass, projectile vomiting Right at birth, first week, first month?! Later on 3month to 3 years?!! Malrotation +/- volvulus Bilious or nonbilious?! Intussusception Bilious due to distal to ampulla of vater 6-36month DDX 1 week of life, and bilious?! Ileocecal most common; idiopathic vs lead point Duodenal atresia; difference?! U/S- target sign Only epigastric distention & UGI blunt end termination of contrast Association Double bubble, Down Syndrome https://radiopaedia.org/articles/target-sign- intussusception?lang=us QUESTION (STEP 2 U WORLD QBANK) Question: 6 month old girl is brought to the A. Administration of inactivated immunization on physician for a well-child visit and routine the same day vaccinations. She is exclusively breastfed and B. Exclusively breastfeeding urinating and stooling normally. One month ago, she was hospitalized for intussusception that was C. Family history of autism reduced successfully by air enema. The child lives D. Personal history of intussusception with her mom, brother and maternal aunt in a small apartment. Her brother has autism and her aunt is E. Pregnant household member pregnant. Vital signs are normal. On exam, she has F. Viral URI mild nasal congestion and clear rhinorrhea. The remainder of the examination is normal. Her mother is very concerned about potential side effects of vaccinations. Which of the following is a contraindication to rotavirus vaccination? BOARD QUESTION A 2 yr old boy is brought into the ER by his mom, who noted blood in the stools and abdominal distention. The child’s labs are all normal. A barium enema is done, revealing a sausage shaped structure near the ileum. What is the most likely explanation of these findings? A- Colonic volvulus B- Intussusception C- Meckel’s diverticulum D- Rotavirus infection E- Normal variant ANSWER The answer is B- Intussusception It it the most common cause of blood in the stool and abdominal distention in a 2 y/o On barium enema examination, you see a sausage-shaped lesion, and the stools have the characteristic currant jelly consistency. IF the child was less than one year of age, you would diagnose volvulus Meckel’s does present with blood in the stool but enema and hx is not suggestive. Rotavirus does not usually have blood  GASTROESOPHAGEAL REFLUX http://snugliees.com/things-to-know-about-gastro- oesophageal-reflux-disease-in-infants/ Occurs when stomach acid backs up into esophagus during or after a meal Combo of low pH in stomach juices & reduced tone of lower esophageal sphincter (LES) In ~10% of cases, acidic stress causes metaplasia of LE mucosa from stratified squamous epithelium to non-ciliated columnar epithelium with goblet cells (Barret esophagus) – Can progress to dysplasia & adenocarcinoma In pediatrics, GERD is not a cause for concern for children < 2 years old – LES is not fully developed so spitting up is common 10 mins post meal Common causes in older kids and adults – Risks factors: Stress, intake of acidic or spicy foods, coffee, alcohol – Pregnancy increases estrogen & progesterone secretion which relax smooth muscle of LES. Also, distention of uterus may physically alter the LES angle and gastric pressure. GASTROESOPHAGEAL REFLUX Clinical features – Burning, squeezing pain (heartburn – can mimic cardiac chest pain) minutes-hours after eating – Post-meal spit ups and acidic taste in mouth – Decay of tooth enamel – Chronic dry cough worse at night (irritation of CN X and bronchoconstriction) – Associated with asthma, obesity Gold standard for Diagnosis: ambulatory 24h pH monitor – Want to see if GERD symptoms coincide with times of decreased pH. Treatment: 85 -90% are self limited; happy spitters Antacids- H2receptor anatagonist; and PPI indicated when infant or child struggles to gain weight due to GERD. NECROTIZING ENTEROCOLITIS (NEC) Bacterial invasion of intestinal wall leading to local infection, inflammation and eventual destruction Most common cause of life-threatening emergency in the newborn Risk factors: – #1 is prematurity (though can also occur in term babies) – Formula feeding, low birth weight, packed RBC transfusions, CHD (truncus arteriosus, hypoplastic left heart disease) Clinical features: – Formula fed premature baby – Occurs in first 2 weeks of life – Bloody stools and abdominal distention NECROTIZING ENTEROCOLITIS (NEC) Feared complication: pneumatosis intestinalis – Build up of air between intestinal walls [NOT in peritoneum] – Immature immune system → components of formula damage intestinal mucosa (most commonly of colon) → abnormal microbiota proliferate → necrosis of intestinal mucosa → eventual perforation → pneumatosis intestinalis – No specific bacteria, fungus, or virus has yet to be identified in NEC PNEUMATOSIS INTESTINALIS Must look closely at the walls of the intestine to view buildup of air in pneumatosis intestinalis of NEC IMPERFORATE ANUS VS HIRSCHSPRUNG DISEASE Imperforate Anus Hirschsprung Disease **** Similarities Both cause neonatal constipation (failure to pass meconium) immediately after birth, bilious vomiting, and abdominal distention. Both show dilated loops of bowel on Abdominal X-ray. Pathophysiology Opening to the anus is missing or blocked. Failure of ganglion cells to migrate to Aurbach (myenteric) and Meissner (submucosal) plexi, leading to defective relaxation and peristalsis in rectum & distal sigmoid colon. Associations VACTERL Down Syndrome ( Double Down) Vertebral anomalies Esophageal atresia Anal atresia Renal and/or Radial CV abnormalities abnormalities Tracheoesophageal Limb defects Abnormalities https://www.mayoclinic.org/diseases-conditions/hirschsprungs-disease/symptoms-causes/syc-20351556#dialogId44008548 IMPERFORATE ANUS VS HIRSCHSPRUNG DISEASE Imperforate Anus Hirschsprung Disease Clinical features Flat bottom (no or poorly developed midline Delayed passage of meconium groove between buttocks) Distal intestinal obstruction: abdominal Absence of anal opening distension + bilious vomiting Thin anal membrane in place of anal opening Tight anal sphincter with explosive release of thru which meconium is visible stool and air upon removal of finger Obstipation and ileus Failure to thrive/poor feeding Fistula → tool may be excreted with urine or Palpation of feces via abdominal wall out of the vagina. Diagnosis Mostly clinical Abdominal US: decreased/absent air in rectum, US can be used to visualize extent of defect megacolon proximal to aganglionic region Rectal suction biopsy: diagnostic, will show absence of ganglion cells Treatment IV hydration + reconstructive surgery Surgery BOARD QUESTION A 2 day old neonate is hospitalized and has not yet passed meconium. After a consult with the Gastroenterologist, the neonate is diagnosed with Hirschsprung’s disease. Which comorbid illness is this neonate at increased risk of having?! A- Chagas’s disease B- Colonic adenocarcinoma C- Crohn’s disease D- Down Syndrome E- VSD ANSWER Answer is D- Down Syndrome 10% of neonates with Hirschsprung disease have Down’s Syndrome. HYPERBILIRUBINEMIA  HISTORY 1903: Bilirubin discovered in basal ganglia in autopsies of children who had severe jaundice. 1958: Nurse noticed fading of the yellow pigment with sun exposure. 1958-1970’s: hyperbilirubinemia was treated aggressively due to high rate of Rh hemolytic disease  BILI METABOLISM Hemolysis of Hgb → Heme Heme degraded → biliverdin biliverdin reduced → indirect bilirubin Indirect (UNCONJUGATED HYPERBILIRUBINEMIA) - Bilirubin binds to albumin - Can saturate albumin - Can be displaced by medications - ibuprofen, sulfisoxazol, streptomycin… - Unbound unconjugated bili can cross BBB BILI METABOLISM - In the Liver, unconjugated bili is conjugated, by uridine diphosphate glucoronosyl transferase (UDGTA) - UDGTA is at 1% of adult at ~40 wks gestation, increases dramatically 1 st few wks of birth - Conjugated bili is excreted in the intestine by the bile duct - Bacteria can deconjugate bili, allow absorption of it back into vasculature 34 Qu es tio n 7 A 3 we ek old bo y pre sen t s t o his pe diat rician b ecau se his mo th er h as n ot iced t h at h e “loo ks ye llow. ” On q u est ion in g, sh e elab orat es t ha t t he jau n dice beg an se vera l da ys aft er b irt h an d has be en ass ociat ed wit h d ark ur ine an d cla y - colo red st oo ls. Labo rat or y st ud ies sho w a d irect b ilirub in lev el o f 5. 0mg /d L an d a t ot al biliru b in leve l of 5. 5mg/ d L. Wh ich of t he fo llow ing is ch ara ct e rist ic of t he mo st like ly d iagn osis ? 20% 20% 20% 20% 20% A. Caused by a genetic mutation in a promoter region. B. Caused by a deficiency in uridine 5’- diphosphoglucuronosyltransferase C. Commonly treated with phototherapy D. Inherited in an autosomal dominate pattern E. Untreated it leads to cirrhosis by six months of. age.. a..... a.... r... n. m ith ut cir yi so m dw nc to to tic cie ds ate au ne efi ea n tre ge d it l na a a ly ed di by by on ite at ed ed m tre er us us m Inh Un Co Ca Ca 35 ANSWER A 3 week old boy presents to his pediatrician because his mother has noticed that he “looks yellow.” On questioning, she elaborates that the jaundice began several days after birth and has been associated with dark urine and clay-colored stools. Laboratory studies show a direct bilirubin level of 5.0mg/dL and a total bilirubin level of 5.5mg/dL. Which of the following is characteristic of the most likely diagnosis? A. Caused by a genetic mutation in a promoter region. B. Caused by a deficiency in uridine 5’- diphosphoglucuronosyltransferase C. Commonly treated with phototherapy D. Inherited in an autosomal dominate pattern E. Untreated it leads to cirrhosis by six months of age. First Aid Q&A for the USMLE Step 1 third edition. 2012.  EXPLANATION  The correct answer is E. The patient is presenting with congenital extrahepatic biliary atresia. Descriptions of a pure elevation in direct bilirubin strongly suggest an obstructive etiology, as the liver is able to conjugate bilirubin but fails to excrete it into the small intestine.  A is incorrect. Gilbert syndrome is a benign disorder caused by a mutation in the promoter region of uridine 5’diphosphoglucuronosyltransferase, leading to diminished expression of the gene. Patients with Gilbert syndrome develop a mild unconjugated hyperbilirubinemia.  B is incorrect. Criglar-Najjar syndrome type I is caused by a complete deficiency in uridine 5’diphosphoglucuronosyltransferase, the hepatic enzyme necessary to conjugate bilirubin. The disorder produces a severe unconjugated hyperbilirubinemia that causes death within the first few months of life.  C is incorrect. Physiologic jaundice refers to the mild unconjugated hyperbilirubinemia that affects nearly all newborns because of the greater turnover of neonatal RBCs and the decreased bilirubin clearance in the first few weeks of life.  D is incorrect. Biliary atresia is a rare condition whose cause is not entirely known; it is not inherited in an autosomal dominant pattern. First Aid Q&A for the USMLE Step 1 third edition.. https://www.google.com/search?q=Gilbert+vs+crigler+pneumonic&rlz=1C5CHFA_enUS919US919&sxsrf=AOaemvKCiB9XytCxTrKr6MTpMsR99 pNz4A:1641433017843&source=lnms&tbm=isch&sa=X&ved=2ahUKEwjEv82__pv1AhWPKEQIHdF5BXUQ_AUoAXoECAEQAw&biw=1259&bi h=651&dpr=1#imgrc=vc5gXYaWmSLDJM  PHYSIOLOGIC JAUNDICE UNCONJUGATED HYPERBILIRUBINEMIA - Due to - high production and impaired ability to remove bili (immature UDGTA) - Shorter life of RBC - Begins after 24 hrs of life and can last up to 1 wk  BREASTFEEDING JAUNDICE ** Early onset jaundice (1st wk of life) - Due to caloric intake, mild dehydration, delayed passage of meconium - Meconium contains deglucoronidase which unconjugates bilirubin - If newborn is not urinating 4-6 times and having ~4 yellow seedy stools, or if there is increase wt loss, newborn may need supplementation  BREAST MILK JAUNDICE Late onset jaundice (6th to 14th day of life) - Unclear etiology, however several hypothesis - Beta-glucoronidases in milk deconjugate bilirubin in the gut and allow for absorption - Nonesterfied FA inhibit Ezs which conjugation - DDX, in this age group, above is most common, but conjugated bili etiologies are possible as well - To differentiate, you can D/C breast milk x 48hrs  JAUNDICE OF PREMATURITY - Preterm infants develop hyperbilirubinemia same as term infants, however; - It is more common - More severe - Last longer - Related to the relative immaturity of the; - RBCs - Hepatic cells - GI tract  PATHOLOGY: UNCONJUGATED HYPERBILIRUBINEMIA - increased bilirubin production (making more bili/yellow) - ie: blood group incompatibility, or structural defects in erythrocytes - impaired conjugation of bilirubin (Keep bili from breaking down) - ie: Gilbert syndrome, Crigler-Najjar syndrome type I(more severe) and type II - increased enterohepatic circulation (circulating more bili/yellow) - deficiency of hepatic uptake (unable to get take yellow)  PATHOLOGY: CONJUGATED HYPERBILIRUBINEMIA - Defined by; - Conjugated billi 1 mg/dL if TSB is < 5 mg/dL - Conjugated bili 20% or greater of TSB if TSB > 5mg/dL - Possible Etiologies; - UTI, sepsis - Infants > 3wks, conjugated bili should be measured to r/o cholestasis or biliary atresia - Newborn screen can show; - Galactosemia, and thyroid abnormalities  KERNICTERUS - Chronic or permanent neurologic sequela of bilirubin toxicity, unconjugated, unbound to albumin, can cross blood brain barrier - Acute bilirubin toxicity; should be a concern for physician if; - TSB is > 25mg/dL - TSB is > 20mg/dL in term infants w/ hemolysis - Long term morbidity is kernicterus - Two phases of kernicterus; - Phase 1: 1st yr, hypotonia, delayed motor skill… - Phase 2: after 1st yr, cerebral palsy, ballismus…  EVALUATION Jaundice with hemolytic anemia; – If mothers blood is not O, or Rh (-), Coombs test does not need to be run from cord blood – ABO incompatibility occurs in 15% of newborns, however only 5% of these develop symptomatic hemolytic disease – RH (-) mothers should be given RhoGAM IM at 28 weeks gestation Figure 1. Nomogram  EVALUATION CONTINUED - AAP subcommittee recommends assessing all newborns TSB, and TcB prior to D/C - This is due to levels of bilirubin peaking between the 3rd and 5th day of life - This is not an agreed upon recommendation  RISK FACTORS FOR HYPERBILIRUBINEMIA - Exclusive breastfeeding - phototherapy in a sibling - gestational age less than 37 weeks - jaundice in the first 24 hours - hemolytic disease - East Asian race - cephalohematoma or significant bruising - TSB or TcB in the high risk zone before discharge  TREATMENT OPTIONS - Phototherapy - converts bilirubin to lumirubin (water-soluble compound) - Due to the yellow pigmentation, blue light is absorbed best (460 – 490 nm range) - Best is the special fluorescent blue light - It is not standardize, when phototherapy should be stopped - Some say a decrease in 4-5 mg/dL - Others say not until TSB is at 13-14 mg/dL TREATMENT OPTIONS - Exchange Transfusion - 1st successful treatment for severe hyperbilirubinemia - Medical Emergency - Procedure to be done in neonatal ICU - Replace small amounts of infants blood with donor RBCs until infants blood has been replaced twice - Goal is to remove bilirubin and any antibodies that may be contributing to ongoing hemolysis TREATMENT OPTIONS - Exchange Transfusion Continued - When to start on a jaundiced infant demonstrating signs of; - acute bilirubin encephalopathy even if TSB value is falling - Complications can include; - Infection - portal venous thrombosis - Thrombocytopenia - necrotizing enterocolitis - electrolyte imbalances - graft versus host disease - death BOARD QUESTION A 10 month old infant is brought to the emergency department with severe jaundice. Testing shows absence in UDP-glucuronyl transferase and high levels of unconjucated bilirubin. What is the most likely explanation for these findings? A. Crigler-Najjar syndrome B. Dubin-Johnson syndrome C. Gilbert’s syndrome D. Reye’s syndrome E. Rotor syndrome ANSWER Answer is A Crigler-Najjar syndrome is diagnosed by absence of UDP glucuronyl transferase. Death follows in 1-3 years of onset. Treatment options are plasma-pheresis and phototherapy to conjugate the bilirubin. Dubin-Johnson is caused by increased level of conjucated bilirubin in serum due to defective liver excretion. A grossly black liver is also a common finding. Gilbert’s syndrome is marked by mildly decreased UDP-glucuronyl transferase, w/ no known mortality symptoms Reye’s syndrome is a fatal childhood hepatoencephalopathy induced by ingestion of aspirin during viral infection.  JOG YOUR MEMORY SLIDE Timeline approach AT birth/ pre-birth? Omphalocele Gastroschisis If you have a choice?! Progressive and later at 2-4 weeks?! Gastroschisis Pyloric stenosis Why? Bilious or nonbilious? No associated anomalies Nonbilious, proximal to ampulla of vater Mostly to the Right, not covered Associated with?! What about omphalocele? Turner and Edwards syndrome Trisomies 21, and 18, and Wideman syndrome. Olive shaped mass, projectile vomiting Right at birth, first week, first month?! Later on 3month to 3 years?!! Malrotation +/- volvulus Bilious or nonbilious?! Intussusception Bilious due to distal to ampulla of vater Ileocolic most common; lead point DDX 1 week of life, and bilious?! U/S- target sign Duodenal atresia; difference?! Only epigastric distention & UGI blunt end termination of contrast Association Double bubble, Down Syndrome https://radiopaedia.org/articles/target-sign- intussusception?lang=us  JOG YOUR MEMORY SLIDE Breast feeding Jaundice vs Breast milk?! Breast feeding is different because? Show up first week Low urine output Dehydration Not enough milk yet To be called conjugated hyperbili? Conjugated bili 20% or greater of TSB Another name for conjugated is? Direct hyperbilirubinemia Two unconjugated hyperbili that we spoke about are? DC= direct is conjugated Gilbert syndrome Kernicterus is caused by?!! benign disorder Unconjugated hyperbili caused by a mutation in the promoter region of uridine Two conjucated hyperbili that we mentioned are: 5’diphosphoglucuronosyltransferase 1- Dubin-Johnson= leading to diminished expression of the gene. Autosomal recessive condition characterized develop a mild unconjugated hyperbilirubinemia. by jaundice. A dark pigment accumulates in the liver Criglar-Najjar syndrome type I giving it a characteristic black color. caused by a complete deficiency in uridine Primary defect is a mutation in an apical 5’diphosphoglucuronosyltransferase canalicular membrane protein responsible produces a severe unconjugated hyperbilirubinemia for excretion of bilirubin. 2- Biliary Atresia= congenital extrahepatic if untreated death within the first few months of life. biliary atresia. REFERENCES Students- coauthors Warren Stopak, OMS-III Touro & Weronika Nepali, OMS-III WesternU Authors: Bryon J. Lauer, MD, Nancy D. Spector, MD, Retrieved from article in PEDIATRICS IN REVIEW Vol. 32 No. 8 August 1, 2011 pp. 341 -349 REFERENCES Winkes, Adeline. Case Based Pediatrics For Medical Students and Residents: Chapter II.6. Malnutrition and Vitamin Deficiencies; Department of Pediatrics, University of Hawaii John A. Burns School of Medicine  http://www.hawaii.edu/medicine/pediatrics/pedtext/s02c06.html Uptodate.com. Micronutrient deficiencies associated with malnutrition in children  http://www.uptodate.com/contents/micronutrient-deficiencies- associated-with-malnutrition-in- children?source=search_result&search=vitamin+deficiency+children&s electedTitle=6%7E150 Questions adapted from University of Utah School of Medicine, Webpath: Nutrition exam  http://library.med.utah.edu/WebPath/EXAM/MULTGEN/nutrfrm.html REFERENCES Le, T., & Bhushan,V. (2018). First Aid for the USMLE Step 1 2018. New York: McGraw-Hill Medical. Sattar, Hussein (2017) Pathoma: Fundamentals of Pathology. Carlo Di Lorenzo, MD. (2019) Approach to the infant or child with nausea & vomiting. Uptodate.com Wertheimer, Arcinue, Niklas (2019). Necrotizing Enterocolitis: Enhancing Awareness for the General Practitioner. Pediatrics in Review Amboss – online medical school resource for Step 1 and 2