Pediatric Gastroenterology Board Review Pediatric Gastroenterology Board Review Chris Hebertson M D

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Pediatric Gastroenterology Board Review Pediatric Gastroenterology Board Review Chris Hebertson M D Powered By Docstoc
					Pediatric Gastroenterology Board Review
Chris Hebertson, M.D. January 18, 2006

You are volunteering with a group of medical students in a small African village. You are asked to examine an apathetic child who refuses to eat. Physical examination reveals thinning hair and thin skin. The child also has edema of the face, hands, and legs.
Of the following, the condition MOST likely responsible for this child‟s findings is
A. kwashiorkor B. marasmus C. vitamin C deficiency D. vitamin D deficiency E. zinc deficiency

You are volunteering with a group of medical students in a small African village. You are asked to examine an apathetic child who refuses to eat. Physical examination reveals thinning hair and thin skin. The child also has edema of the face, hands, and legs. Of the following, the condition MOST likely responsible for this child‟s findings is
A. kwashiorkor

Marasmus
Severe calorie malnutrition in a child  “Wizened old man”  Hypothermia, bradycardia, and hypotension


Kwashiorkor
Insufficient intake of protein, and/or calories  Soft, pitting, painless edema, usually involving the feet and legs


Marasmic Kwashiorkor
Protein-energy malnutrition  Severe edema of kwashiorkor and cachexia of marasmus


A 15-year-old cross-country runner has oligomenorrhea. Her diet does not include red meat, and she does not drink milk. However, she eats an otherwise wide variety of foods, including chicken, cheese, and cereals. Her body mass index is at the 25th percentile for her age. Of the following, the MOST appropriate recommendations for nutritional supplements for this patient are
– – – – – A. Calcium:Yes; Folic acid:Yes; Vitamin B12:No; Protein: No B. Calcium:Yes; Folic acid:Yes; Vitamin B12:No; Protein: Yes C. Calcium:Yes; Folic acid:Yes; Vitamin B12:Yes; Protein: No D. Calcium:Yes; Folic acid:No; Vitamin B12:No; Protein: Yes E. Calcium:No; Folic acid:No; Vitamin B12:No; Protein: Yes

A 15-year-old cross-country runner has oligomenorrhea. Her diet does not include red meat, and she does not drink milk. However, she eats an otherwise wide variety of foods, including chicken, cheese, and cereals. Her body mass index is at the 25th percentile for her age.

Of the following, the MOST appropriate recommendations for nutritional supplements for this patient are
– A. Calcium:Yes; Folic acid:Yes; Vitamin B12:No; Protein: No

Vegetarian Diets
Acceptable with adequate supplementation  Strict vegetarians need vitamin B12 supplementation  Iron should be monitored in the strict vegetarian


Vomiting


Important associations

– Bilious = GI obstruction – Blood = upper GI bleed – Fever = Gastroenteritis/system infection – Emesis only (no nausea) = GERD – Undigested food = achalasia – Projectile emesis = pyloric stenosis, antral web, annular pancreas – Tense fontanelle = increased ICP – Older adolescent female = pregnancy, drugs, migrane, bulemia

Chronic Vomiting
Persistent emesis and unclear etiology  Evaluation


– Abdominal ultrasound – Upper GI – Endoscopy (best test)

Cyclic Vomiting
Paroxysms of vomiting followed by intervals of complete health  Girls aged 6 to 7  Several weeks between episodes  Strong association with family history of migraines  Must evaluate for organic disease  Treatment difficult – beta-blockers


A 12-year-old boy presents to the emergency department because of progressive, intermittent, crampy abdominal pain and bilious vomiting for the past 12 hours. He has had two watery bowel movements in the last 36 hours and has not voided in 6 hours. Two weeks ago, he had a laparotomy and ileal resection for Crohn disease.
Of the following, the clinical finding that MOST favors a diagnosis of postoperative small bowel obstruction rather than ileus is
A. abdominal distension B. decreased urine utput C. hyperactive bowel sounds D. paucity of stool on rectal examination E. tachycardia

A 12-year-old boy presents to the emergency department because of progressive, intermittent, crampy abdominal pain and bilious vomiting for the past 12 hours. He has had two watery bowel movements in the last 36 hours and has not voided in 6 hours. Two weeks ago, he had a laparotomy and ileal resection for Crohn disease. Of the following, the clinical finding that MOST favors a diagnosis of postoperative small bowel obstruction rather than ileus is
C. hyperactive bowel sounds

Acute Abdominal Pain
  

Very common complaint Less than 5% admitted from ER Clues:

– Trauma = perforation, hemorrhage, musculoskeletal injury, pancreatitis – Bilious vomiting = obstruction – Peritonitis = appendicitis, cholecystitis, PID – Adolescent female = PID, pregnancy, ovulatory pain – Currant jelly stool = intussusception – Melana = upper GI bleed – Non-specific = gastroenteritis, toxins, UTI, pneumonia, functional abdominal pain

Functional Abdominal Pain


Clues for diagnosis
– Pain longer for 3 months – Age 6 to 14 years of age – Exhibits features of abdominal pain – Stressors exacerbate pain – Normal exam and no significant weight loss – Stool occult blood negative – Normal laboratory screen

Organic Cause for Abdominal Pain


Clues to diagnosis
– – – –
– – – – –

Pain awakens child at night Pain localized or persistent way from umbilicus Weight loss or FTT Fever, rash, joint pain, mucus membrane changes/ulcers, dysuria Sleepiness after attacks Guaiac positive stools Anemia Elevated ESR Family history of PUD/IBD

Acute Diarrhea
Diarrhea lasting less than 14 days  In children, almost always from infections  Evaluation?


– <2 months old – Gross blood in stool – Stool Leukocytes – Toxic-appearing child – Diarrhea, while inpatient

Acute Diarrhea
Treat with oral hydration therapy  Recommend Pedialyte/Rehydralyte  Avoid hypertonic solutions (Gatorade, Juices, Soft Drinks)  Contraindications


– – – –


Shock Stool output > 10 ml/kg/hr Ileus Monosaccharide intolerance

Resume regular diet after rehydration

Constipation
Majority is due to functional or behavioral problem  Small percentage of children present with constipation have an organic cause  Some breast-fed babies will stool 1/5-10 days  Functional fecal retention is the most common nonorganic cause


Tracheoesophageal Fistula and Esophageal Atresia
 

1/4000 births 90% tracheosophageal abnormalities present as blind upper esophageal pouch with a fistula between a lower esophageal segment and the lower portion of the trachea near the carina

Tracheoesophageal Fistula and Esophageal Atresia


   

1/3 of patients will have other congenital abnormalities (VACTERL – Vertebral, Anal atresia, Cardiac, TracheoEsophegeal fistula, Renal, and Limb abnormalities) Esophageal atresia with distal TEF = diagnosed with NG placement Esophageal atresia w/out TEF = excessive secretions Esophageal atresia w/out esophageal atresia (H-type) = choking during feeding Esophageal stenosis and web diaphragms = dysphagia with solid introduction

Tracheoesophageal Fistula and Esophageal Atresia


Esophageal atresia with distal TEF diagnosed by placing NG tube and unable to advance into stomach, CXR will show coiled tube and no air in stomach

Achalasia
Incomplete relaxation of lower esophageal sphincter and lack of normal esophageal peristalsis  Dysphagia, regurgitation, recurrent pneumonias, weight loss, and chest discomfort


Gastroesophageal Reflux


GE Reflux – return of gastric contents into the esophagus
– ½ of 0-3 months, and 2/3 of 4-6 months of age vomit once/day – Usually resolves by 2 years of age and no treatment is necessary

Becomes GERD when clinical symptoms start to appear (FTT, pain, etc.)  Diagnosis difficult (UGI vs pH probe vs endoscopy vs nuclear scintigraphy


Gastroesophageal Reflux
GE Reflux treatment – reassurance  GERD – primarily dietary measures


– Medications – Surgery

Infections of the Esophagus
Rare in healthy children  At risk kids


– – – –


HIV Diabetes Cancer Long-term steroid use

Most common organisms
– Candida – CMV – HSV

Ingestions Causing Esophagitis
   


 

Can produce severe esophagitis Acidic agents – taste bad, and are rare Alkaline agents – usually more significant because they are swallowed Drooling, dysphagia, and abdominal pain Observe those with no symptoms and offer clears Admit and scope those with clear history Do not induce emesis (further esophageal damage)

Pill-Induced Esophagitis
Local irritation due to pill adherence to esophageal wall  Most common pills


– Tetracycline, Doxycycline – NSAIDs, aspirin – Potassium

Foreign Body Ingestion
Most can be diagnosed with chest x-rays (90% are radiopaque)  Coins in the coronal plane = esophagus  Coins in sagittal plane = trachea  Endoscopy usually needed for removal and evaluation


Esophageal Perforation
Rare in children  Can occur in those with Ehlers-Danlos and Marfans syndromes  Fever, hypotension  Pain in chest or upper back  No endoscopy


Pyloric Stenosis
1/200 to 1/750 live births  6 times more common in males  Presents between 3 weeks and 2 months  Non-bilious, projectile vomiting  Hypochloremic alkalosis if not noticed early  Abdominal US/UGI  Pyloromyotomy for treatment


A 2-year-old girl has a history of biliary atresia treated with a Kasai procedure at 3 months of age. She presents to the emergency department because she vomited a cupful of blood that morning. She is pale and quiet. You examine the patient, administer a normal saline bolus, and send blood for diagnostic studies. Of the following, the finding that suggests bleeding from esophageal varices rather than from gastritis or peptic ulcer disease is a
A. bilirubin of 8 mg/dL (136.8 mcmol/L)
B. diagnosis of vitamin D-deficient rickets C. history of ibuprofen administration 24 hours ago

D. prothrombin time of 19 sec
E. spleen extending 5 cm below the costal margin

A 2-year-old girl has a history of biliary atresia treated with a Kasai procedure at 3 months of age. She presents to the emergency department because she vomited a cupful of blood that morning. She is pale and quiet. You examine the patient, administer a normal saline bolus, and send blood for diagnostic studies. Of the following, the finding that suggests bleeding from esophageal varices rather than from gastritis or peptic ulcer disease is a
E. spleen extending 5 cm below the costal margin

Erosive/Hemorrhagic Gastropathy
Stress gastropathy – from severe physiological stress  Drug-induced gastropathy – aspirin and NSAIDs are most common cause of minor erosions and hemorrhages


Non-Erosive Gastropathy
Most common cause of gastritis  Helicobacter pylori gastritis


– Most common cause of gastritis in children – Diagnosed by biopsy

Peptic Ulcer Disease
Rare in children  Usually always related to H. pylori disease  Diagnosed by endoscopy and biopsy  Antibody testing and upper GI are not accurate/acceptable diagnosis modalities in children


Peptic Ulcer Disease


Zollinger-Ellison Syndrome
– Increased stomach acid due to gastrinsecreting tumor of the pancreas, duodenum, or other GI sites – Strongly associated with MEN-I

Malrotation
1/6000, may present at anytime in childhood  Infants classically present in first month of life with bilious emesis due to midgut volvulus  UGI demonstrates classic “bird‟s beak” of the 2nd or 3rd portion of the duodenum; “corkscrew” if partial obstruction


Intussusception
Occurs between 2 months and 5 years of life, peak between 4 and 10 months  Almost all idiopathic  Abdominal pain, vomiting, and bloody stools  “Currant jelly” usually after abdominal pain  Mass in RUQ occasionally during exam  Air contrast enema is diagnostic (and therapeutic)  Laparotomy needed if enema not therapeutic


A 2.4-kg term infant who has the clinical features of Down syndrome has bile-stained emesis following a cow milkbased formula feeding 4 hours after birth. Physical examination reveals abdominal distension. A double bubble is seen on the abdominal flat plate radiograph. No air is present elsewhere in the abdomen. Of the following, the BEST initial step in management of this infant is
A. administration of intravenous antibiotics B. contrast enema C. emergent surgical decompression

D. nasogastric tube placement
E. soy milk formula feeding

A 2.4-kg term infant who has the clinical features of Down syndrome has bile-stained emesis following a cow milk-based formula feeding 4 hours after birth. Physical examination reveals abdominal distension. A double bubble is seen on the abdominal flat plate radiograph. No air is present elsewhere in the abdomen. Of the following, the BEST initial step in management of this infant is
D. nasogastric tube placement

Duodenal Atresia
½ of all intestinal atresias  Associated with multiple anomalies (GI, cardiac, anorectal, or esophageal)  40% have trisomy 21  Classic “double-bubble” sign


A 3-year-old girl is brought to the emergency department with a history of blood in her stool. In the past 12 hours, she has had three large, mushy bowel movements that the parents say had about 2 tablespoons of blood mixed in with each stool. She has not vomited. She has been afebrile and does not appear uncomfortable when passing the stool. On physical examination, the frightened but active toddler is in no distress. Her abdomen is soft, and rectal examination demonstrates dark red blood. The hematocrit is 25% (0.25), platelet count is 350 x 103/mcL (350 x 109/L), white blood cell count is 9 x 103/mcL (9 x 109/L), prothrombin time is 12.5 sec, and partial thromboplastin time is 25 sec.
Of the following, the next MOST appropriate diagnostic procedure is A. abdominal computed tomography B. colonoscopy C. exploratory laparotomy D. nasogastric tube placement E. 99mTc-pertechnetate scan

A 3-year-old girl is brought to the emergency department with a history of blood in her stool. In the past 12 hours, she has had three large, mushy bowel movements that the parents say had about 2 tablespoons of blood mixed in with each stool. She has not vomited. She has been afebrile and does not appear uncomfortable when passing the stool. On physical examination, the frightened but active toddler is in no distress. Her abdomen is soft, and rectal examination demonstrates dark red blood. The hematocrit is 25% (0.25), platelet count is 350 x 103/mcL (350 x 109/L), white blood cell count is 9 x 103/mcL (9 x 109/L), prothrombin time is 12.5 sec, and partial thromboplastin time is 25 sec. Of the following, the next MOST appropriate diagnostic procedure is
E. 99mTc-pertechnetate scan

Meckel Diverticulum
Most common cause of serious lower GI bleeding in children  Ectopic tissue is common (80% being gastric in origin and 5% of pancreatic)  Rule of 2‟s




Diagnosis is usually made by Meckel scan (ectopic tissue)

– – – – – –

2% of population 2 feet from ileocecal junction 2 inches in length 2 cm in diameter 2:1 male:female ratio Usually asymptomatic before 2 years of age

Lactase Deficiency
Common disorder after age 2  Breath hydrogen test is diagnostic test  Endoscopic biopsy with measurement of mucosal enzyme activity is the gold standard


You are caring for a 2-month-old infant who was born at 30 weeks gestation and weighed 1,000 g at birth. At 2 weeks after birth, the infant developed severe necrotizing enterocolitis and underwent a resection of the ileum and ileocecal valve. She is estimated to have approximately 70 cm of remaining jejunum connected to a stoma. Most of the colon remains, but it is not in continuity with the small intestine. The infant has been maintained exclusively on parenteral nutrition, but you are planning to transition her to enteral feedings. Of the following, a TRUE statement about feeding this child who has short bowel syndrome is that
A. a stool-reducing substance of 1% or greater suggests good tolerance of enteral feedings B. bolus feedings are preferred over continuous feedings C. cow milk protein formulas are preferred because of their decreased osmolarity D. rectal bleeding in this patient suggests intolerance of enteral feeding E. small bowel bacterial overgrowth is a frequent cause of feeding intolerance

You are caring for a 2-month-old infant who was born at 30 weeks gestation and weighed 1,000 g at birth. At 2 weeks after birth, the infant developed severe necrotizing enterocolitis and underwent a resection of the ileum and ileocecal valve. She is estimated to have approximately 70 cm of remaining jejunum connected to a stoma. Most of the colon remains, but it is not in continuity with the small intestine. The infant has been maintained exclusively on parenteral nutrition, but you are planning to transition her to enteral feedings.

Of the following, a TRUE statement about feeding this child who has short bowel syndrome is that
E. small bowel bacterial overgrowth is a frequent cause of feeding intolerance

Short-Gut Syndrome
Malabosorption disorder from shortened intestinal length  How much bowel needed?


– >38 cm of small intestine survive – <15 cm of small intestine die

A mother brings in her 4-month-old infant, whom she has breastfed since birth. Because an older sibling has celiac disease (gluten-sensitive enteropathy), the mother wants to have this baby weaned to a gluten-free diet.
Of the following, the BEST advice to offer the mother is that
A. breastfed infants have a greater than 25% risk of developing vitamin D deficiency and rickets during weaning B. juices should be introduced by 6 months of age because both human milk and infant formulas are deficient in vitamin C C. siblings of patients who have celiac disease have a less than 25% chance of developing celiac disease D. weaning to a gluten-free diet may result in failure to thrive due to carbohydrate restriction E. weaning to solid foods should be delayed until after the infant is 9 months of age

A mother brings in her 4-month-old infant, whom she has breastfed since birth. Because an older sibling has celiac disease (gluten-sensitive enteropathy), the mother wants to have this baby weaned to a gluten-free diet.
Of the following, the BEST advice to offer the mother is that
C. siblings of patients who have celiac disease have a less than 25% chance of developing celiac disease

Celiac Disease






Gluten from wheat products can induce the immune reaction to human transglutaminase and the resulting mucosal damage Classic presentation – patient <2 years of age with diarrhea, poor weight gain, abdominal distension, and proximal muscle wasting Dermatitis herpetiformis – itchy, bullous lesions on the extensor surfaces of arms, legs, trunk, and scalp

Celiac Disease
Autoimmune disorders common  Children with type I DM and IgA deficiency should be screened for celiac  50x more common in Down syndrome  Celiac panel screening (antigliadin antibodies, transglutaminase antibodies)  Diagnosis


– Positive small bowel biopsy – Complete remission on gluten free diet

Ulcerative Colitis
Inflammation restricted to colon Diagnosis by endoscopy  Continuous lesions  Involves mucosa only  pANCA in 60%  Some weight loss  X-ray – loss of haustrations  Gross rectal bleeding common  Treatment
 

– 5-aminosalycilates, corticosteroids, purine analogs, cyclosporine, methotrexate – Surgery

Crohn Disease
       

Not restricted to colon Skip-lesions Transmural disease Granulomas likely 60% anti-Saccharamyces antibodies Severe weight loss X-ray – thumbprinting, skip areas Treatment

– 5-aminosalicylates, corticosteroids, purine analogs, cyclosporine A, methotrexate, antibiotics, infliximab – Surgery is non-curative

A 10-year-old boy presents with the acute onset of abdominal pain that was followed shortly thereafter by vomiting. The pain is described as periumbilical. There is no history of trauma. He has had no fever, sore throat, headache, dysuria, or diarrhea. His mother describes the emesis as „green‟. On physical examination, the child is in obvious distress. Other than mild tachycardia, his vital signs are within normal limits. His abdomen is diffusely tender, with localization to the periumbilical area. He also complains of increased abdominal pain when his heel is struck by the examiner‟s hand. Rectal examination reveals no evidence of occult blood. Of the following, the MOST likely cause of this child‟s abdominal pain is
A. acute pancreatitis
B. appendicitis C. intussusception

D. pyelonephritis
E. small bowel obstruction

A 10-year-old boy presents with the acute onset of abdominal pain that was followed shortly thereafter by vomiting. The pain is described as periumbilical. There is no history of trauma. He has had no fever, sore throat, headache, dysuria, or diarrhea. His mother describes the emesis as „green‟. On physical examination, the child is in obvious distress. Other than mild tachycardia, his vital signs are within normal limits. His abdomen is diffusely tender, with localization to the periumbilical area. He also complains of increased abdominal pain when his heel is struck by the examiner‟s hand. Rectal examination reveals no evidence of occult blood. Of the following, the MOST likely cause of this child‟s abdominal pain is
B. appendicitis

Juvenile Polyps and Polyposis
4 to 6 year old child with painless rectal bleeding  Polyposis – more than 5-10 juvenile polyps


Peutz-Jeghers Syndrome
GI hamartomatous polyps and mucocutaneous hyperpigmentation  1-5 mm black macules usually on the lips  Multiple polyps  ½ develop non-colon cancers


Omphalocele
Defect in abdominal wall at the umbilicus  Can contain both hollow and solid visceral organs  > 4 cm and are covered by peritoneal membrane internally and amniotic membrane externally  50-75% have an associated congenital abnormality  Survival usually affected by associated anomalies


Gastroschesis
2-5 cm abdominal wall defect to the right of the umbilicus, with exposed loops of small and large bowel  Surgery is mandatory and can not be delayed


Hirschprung Disease
     

1/5000 births Absence of enteric ganglionic neurons that begin at the anus and then extend proximally Increased association with Down syndrome Evaluate any term infant that does not pass meconium within 48 hours of birth Suction rectal biopsy for diagnosis, full-thickness biopsy needed for unclear cases Treat with surgical resection

A 15-year-old girl presents with her third episode of severe epigastric pain in the past 8 months. In between episodes, she is completely healthy. In each of her prior episodes, amylase and lipase concentrations both were elevated (>500 U/L), but returned to normal within 96 hours. The girl states that she does not consume alcohol and takes no medications. A brother has been hospitalized with similar symptoms. On physical examination, the girl appears well nourished but uncomfortable and is experiencing moderate epigastric tenderness. Complete blood count, transaminases, and bilirubin results are normal; the amylase level is 700 U/L and lipase level is 1,100 U/L. You admit the girl to the hospital for hydration and pain control. Abdominal ultrasonography shows no gallstones, and the common bile duct is not dilated. The pancreas is slightly enlarged, but there is no pseudocyst. Of the following, the MOST appropriate next test to identify the cause of this girl‟s illness is
A. esophagogastroduodenoscopy B. genetic testing for Johanson-Blizzard syndrome C. mumps antibody titer D. sphincter of Oddi manometry E. sweat test for cystic fibrosis

A 15-year-old girl presents with her third episode of severe epigastric pain in the past 8 months. In between episodes, she is completely healthy. In each of her prior episodes, amylase and lipase concentrations both were elevated (>500 U/L), but returned to normal within 96 hours. The girl states that she does not consume alcohol and takes no medications. A brother has been hospitalized with similar symptoms. On physical examination, the girl appears well nourished but uncomfortable and is experiencing moderate epigastric tenderness. Complete blood count, transaminases, and bilirubin results are normal; the amylase level is 700 U/L and lipase level is 1,100 U/L. You admit the girl to the hospital for hydration and pain control. Abdominal ultrasonography shows no gallstones, and the common bile duct is not dilated. The pancreas is slightly enlarged, but there is no pseudocyst. Of the following, the MOST appropriate next test to identify the cause of this girl‟s illness is
E. sweat test for cystic fibrosis

Shwachman-Diamond Syndrome
Autosomal recessive  Second most common cause of pancreatic insufficiency  Short stature, intermittent or persistent neutropenia, and skeletal abnormalities


Acute Pancreatitis
Multiple etiologies (infectious to trauma)  Abdominal pain (epigastric), persistent vomiting, and fever  Cullen sign (bluish discoloration around umbilicus) and Grey Turner sign (bluish discoloration of the flanks)


Acute Pancreatitis
Diagnosis – amylase and lipase  Ultrasound  Treatment with pain control and NPO


Chronic Pancreatitis
Most cases from hereditary pancreatitis (autosomal dominant)  80% present prior to 20 years of age


Choledochal Cysts
1/13,000 to 1/2,000,000 live births  Abdominal pain, jaundice, and palpable right upper quadrant mass  Ultrasound shows intrahepatic and extrahepatic biliary tree dilation


Alagille Syndrome
   



Autosomal dominant Caused by mutation on chromosome 20p Associated with pulmonary artery stenosis, and neonatal cholestasis Present with chronic liver disease with a “paucity” of small intrahepatic ducts, “butterfly” vertebrae, abnormal radius/ulna, abnormality of ebbryotoxon of the eye, and characteristic facies Prone to intracranial bleeding with minor head trauma

A 15-year-old girl presents with a 3-week history of fatigue, a 2-week history of temperature to 100.4°F (38°C), and a 1-week history of jaundice. She admits to both unprotected intercourse and intravenous drug use. On physical examination, she has an enlarged liver, with a span of 9 cm (4 cm below the right costal margin). Laboratory studies demonstrate an aspartate aminotransferase level of 460 U/L and an alanine aminotransferase level of 760 U/L. In a patient of this age, the viral infection that is associated with the HIGHEST risk for the development of chronic hepatitis and cirrhosis is
A. Epstein-Barr

B. hepatitis A
C. hepatitis B D. hepatitis C E. hepatitis E

A 15-year-old girl presents with a 3-week history of fatigue, a 2-week history of temperature to 100.4°F (38°C), and a 1-week history of jaundice. She admits to both unprotected intercourse and intravenous drug use. On physical examination, she has an enlarged liver, with a span of 9 cm (4 cm below the right costal margin). Laboratory studies demonstrate an aspartate aminotransferase level of 460 U/L and an alanine aminotransferase level of 760 U/L. In a patient of this age, the viral infection that is associated with the HIGHEST risk for the development of chronic hepatitis and cirrhosis is
D. hepatitis C

A 13-year-old girl reports, I‟m just not feeling like myself. In the past month, she has noted progressive fatigue, to the point of falling asleep in class. Her mother has noticed that the girl seems more prone to nosebleeds, and her skin color has changed. Physical examination demonstrates an alert, slightly jaundiced child who has mild scleral icterus and two small bruises on each of her forearms. Her throat appears normal and without exudates. There is no adenopathy. Her liver span is 11 cm (4 cm below the costal margin), and a spleen tip is palpable. Laboratory studies demonstrate an aspartate aminotransferase of 740 U/L, alanine aminotransferase of 1,390 U/L, total bilirubin of 5 mg/dL (85.5 mcmol/L), direct bilirubin of 2 mg/dL (34.2 mcmol/L), prothrombin time of 20 sec, albumin of 2.0 g/dL (20 g/L), and total protein of 9.0 g/dL (90 g/L). Findings on the complete blood count are unremarkable. Of the following, the diagnosis that is MOST consistent with the findings is
A. alpha-1-antitrypsin deficiency B. autoimmune hepatitis C. hepatitis C D. infectious mononucleosis E. Wilson disease

A 13-year-old girl reports, I‟m just not feeling like myself. In the past month, she has noted progressive fatigue, to the point of falling asleep in class. Her mother has noticed that the girl seems more prone to nosebleeds, and her skin color has changed. Physical examination demonstrates an alert, slightly jaundiced child who has mild scleral icterus and two small bruises on each of her forearms. Her throat appears normal and without exudates. There is no adenopathy. Her liver span is 11 cm (4 cm below the costal margin), and a spleen tip is palpable. Laboratory studies demonstrate an aspartate aminotransferase of 740 U/L, alanine aminotransferase of 1,390 U/L, total bilirubin of 5 mg/dL (85.5 mcmol/L), direct bilirubin of 2 mg/dL (34.2 mcmol/L), prothrombin time of 20 sec, albumin of 2.0 g/dL (20 g/L), and total protein of 9.0 g/dL (90 g/L). Findings on the complete blood count are unremarkable. Of the following, the diagnosis that is MOST consistent with the findings is
B. autoimmune hepatitis

Hepatitis A
         

RNA virus, transmitted fecal-orally (food and water) No transplacental transmission No carrier (occasionally prolonged cholestasis) Incubation is 15-50 days Acute infection – high anti-HAV IgM Previous infection – high anti-HAV IgG Symptoms rare in children 1% have chance of fulminant hepatitis IG is good prophylaxis agains HAV (w/in 2 weeks of exposure) Give IG to household and close contacts

Hepatitis B
DNA virus, transmitted by contaminated serum contact, incubation 1-6 months  Anti-HBs IgG = past exposure to hepatitis B virion or to vaccine  Anti-HBc IgG = best marker for previous exposure  HBeAg = infectivity and liver inflammation, released from hepatocytes


Hepatitis B




Window period – time between Ag detection and Ab detection. AntiHbc IgM confirms diagnosis during this period Clinical presentation
– Prodromal constitutional symptoms (fever, arthritis, urticaria, and angioedema) – Jaundice and patient feels better, and cholestatic symptoms



 

Developing chronic HBV is inversely proportional to age (90% of infected infants develop chronic hepatitis, 5% of older children/adults) 1% develop fulminant hepatitis, 5-7% develop chronic carrier states Carrier states
– Asymptomatic – Chronic persistent hepatitis – Chronic hepatitis B – cirrhosis and hepatocellular cancer

Hepatitis C
Single-stranded RNA virus, blood born transmission  Most common cause of liver disease  Risk factors


 

70-80% of acute HCV infections become chronic
– 25% develop endstage cirrhosis after 20-25 years

– – – – – –

IV drug users Prisoners High risk sexual behavior Blood transfusion prior to 1990 Tattoos and body piercing Snorting cocaine

Low virus states cause a more insidious onset (only 25% of acute infections are symptomatic)  Extrahepatic disease
– Small vessel vasculitis w/ glomerulonephritis neuropathy – Mixed cryoglobulinemia – palpable purpura

Other Hepatitis


Hepatitis D
– RNA virus, requires hepatitis B infection to be pathogenic



Hepatitis E
– RNA virus, spreads fecal-orally – Very high risk for fulminant hepatitis in the 3rd trimester of pregnancy – 20% fatality rate – Acute hepatitis, negative serology, and a traveler = Hepatitis E

Autoimmune Hepatitis
   



Broad variety of distinct diseases that affect liver Present with malaise, weight loss, or anorexia to cirrhosis and portal HTN Look for family history of other autoimmune diseases Diagnosis – serum Ab markers, elevated aminotransferases, with elevated protein (hypergammaglobulinemia) Treat with immunosuppresion

A 3,200-g term male infant presents for his 1-week evaluation. The pregnancy and delivery were uneventful. His parents state that the baby has been difficult to arouse, is feeding poorly, and has been vomiting. On physical examination, the infant weighs 2,800 g, is lethargic and jaundiced, and has a palpable liver 3 cm below the right costal margin. An evaluation for sepsis has been performed and antibiotic therapy initiated. Additional laboratory results include: total bilirubin, 18 mg/dL (307.8 mcmol/L); direct bilirubin, 6 mg/dL (102.6 mcmol/L); alanine aminotransferase, 104 U/L; aspartate aminotransferase, 150 U/L; and positive urine dipstick for protein and reducing substances.
Of the following, the test that would be MOST helpful in the diagnosis of this patient is
A. Coombs test and maternal anti-Rh titer
B. examination of a blood smear for red cell morphology C. serum amino acids and urine organic acids D. serum galactose-1-phosphate uridyltransferase level E. serum hepatitis B surface antigen

A 3,200-g term male infant presents for his 1-week evaluation. The pregnancy and delivery were uneventful. His parents state that the baby has been difficult to arouse, is feeding poorly, and has been vomiting. On physical examination, the infant weighs 2,800 g, is lethargic and jaundiced, and has a palpable liver 3 cm below the right costal margin. An evaluation for sepsis has been performed and antibiotic therapy initiated. Additional laboratory results include: total bilirubin, 18 mg/dL (307.8 mcmol/L); direct bilirubin, 6 mg/dL (102.6 mcmol/L); alanine aminotransferase, 104 U/L; aspartate aminotransferase, 150 U/L; and positive urine dipstick for protein and reducing substances.
Of the following, the test that would be MOST helpful in the diagnosis of this patient is
D. serum galactose-1-phosphate uridyltransferase level

A 17-year-old boy is brought in by his parents because they claim his eyes „look yellow‟ in the morning. He feels well and is active in sports. His past medical history is unremarkable. The boy‟s father had acute hepatitis B12 years ago. The boy has minimal scleral icterus, no tattoos or body piercing, normal heart sounds, no jugular venous distension, and no hepatomegaly or splenomegaly. Laboratory studies demonstrate a total bilirubin of 2.3 mg/dL (39.3 mcmol/L) and direct fraction of 0.1 mg/dL (1.71 mcmol/L). Aspartate aminotransferase and alanine aminotransferase both measure 20 U/L, alkaline phosphatase is 200 U/L, and gamma glutamyl transpeptidase is 40 U/L. Hepatitis B surface antigen is negative. Of the following,the MOST likely cause of this boy‟s jaundice is
A. autoimmune hepatitis B. Crigler-Najjar syndrome type 2 C. Gilbert syndrome D. hepatitis C E. primary sclerosing cholangitis

A 17-year-old boy is brought in by his parents because they claim his eyes „look yellow‟ in the morning. He feels well and is active in sports. His past medical history is unremarkable. The boy‟s father had acute hepatitis B12 years ago. The boy has minimal scleral icterus, no tattoos or body piercing, normal heart sounds, no jugular venous distension, and no hepatomegaly or splenomegaly. Laboratory studies demonstrate a total bilirubin of 2.3 mg/dL (39.3 mcmol/L) and direct fraction of 0.1 mg/dL (1.71 mcmol/L). Aspartate aminotransferase and alanine aminotransferase both measure 20 U/L, alkaline phosphatase is 200 U/L, and gamma glutamyl transpeptidase is 40 U/L. Hepatitis B surface antigen is negative.
Of the following,the MOST likely cause of this boy‟s jaundice is
C. Gilbert syndrome

Gilbert Syndrome
2-10% of the population  Benign genetic disorder, alteration in the promoter for the bilirubin uridine diphosphate glucuronyl transferase gene (UDP-GT)  Mild indirect hyperbilirubinemia  Increased jaundiced during times of stress or fasting  No treatment necessary


Crigler-Najjar Syndrome


Type I
– Complete absence of bilirubin UDP-GT activity – Severe indirect hyperbilirubinemia and NO conjugated bilirubin – Liver transplant is curative



Type II
– Partial activity of bilirubin UDP-GT – Treated with phenobarb

Dubin-Johnson Syndrome
Deficiency of cMOAT/MRP2 gene (transporter of conjugated bilirubin)  Mild conjugated hyperbilirubinemia  Benign


Reye Syndrome
Acute liver disease with hyperammonemic encephalopathy  Associated with aspirin use with an intercurrent viral infection  Vomiting and then AST/ALT values rise  Prognosis dependant on neurologic factors


Alpha1-Antitrypsin Defeciency
Causes progressive liver disease  1/2000 live births  Measure serum levels and suspect in children with chronic liver disease  Majority do well, but some may progress to liver failure


Wilson Disease
Autosomal recessive  Disorder of copper metabolism  1/100,000 – 1/500,000  Excessive accumulation in liver, eyes, kidney, and brain  Suspect in those with liver disease, neurological symptoms  Screen with serum ceruloplasmin level (low in Wilson‟s) and high copper early in disease  Treat with copper-chelating agents


Hemochromatosis
Excessive storage of iron (mainly as hemosiderin) in parenchymal cells  Hereditary – due to mutation in HFE gene  Neonatal – acquired form due to liver damage prior to delivery  Transfusion-induced – from frequent RBC transfusions


Primary Sclerosing Cholangitis
Chronic fibrosing inflammation of the intra and extrahepatic bile ducts  Unknown etiology  Associated with IBD and occasionally ANCA-positive  Cholangiography is best diagnostic test and shows classic “beading” of biliary tree


Cholelithiasis
  

Gallstones RUQ pain, vomiting, and jaundice Certain children are predisposed
– – – – Hemolytic disease (sickle-cell) Patients on TPN Short-bowel syndrome Adolescent, pregnant females

  

Pancreatitis is most common complication If picked-up incidentally observation is acceptable Majority of stones in children are pigmented and do not respond to bile acid therapy

Cholecystitis
Inflammation of the gallbladder  Can occur with or without stones (acalculous often occurs after lifethreatening illnesses/trauma/burns)  Similar symptoms to cholelithiasis but associated with fever  Ultrasound is best diagnostic tool  IVFs and bowel rest; antibiotics if worsening fever or tenderness


Hydrops of the Gallbladder
Acute noncalculous, noninflammatory enlargement of the gallbladder  Associated – Kawasaki‟s, Strep pharyngitis, prolonged fasting, TPN, and HSP  Diagnosed by ultrasound  Treating underlying condition usually results in gallbladder returning to normal


Hepatoblastoma
Most common malignant liver tumor in children  Elevated alpha-fetoprotein  Resection/chemo survival rate reaches 50%


The End!