You are in the ER • 4 yo M brought in by mom, c/o grossly bloody stool x 2 Differential Dx? Ill‐appearing Well‐appearing Hemolytic Uremic Syndrome Henoch‐Schonlein Purpura Meckel’s diverticulum Rule of 2’s: 2% of the population 2 inches long Within 2 feet of the ileocecal valve • 2% have complications Over half of these have complications < 2yrs old • M:F ratio 2:1 • ~ Half contain gastric tissue • • • • HPI 4 yo M Small amt BRB noted in toilet yest AM Seen by PMD & dx anal fissure, rx topical vaseline This AM: “a cup” of BRB in toilet water, mixed with brown stool, and on TP after a BM. No clots or mucus. No associated pain. • Otherwise behaving normally: no distress, active, happy, eating and drinking well. • Denies fever, wt loss, LOC, pallor, epistaxis, gingival bleeding, easy bruising, icterus, mouth sores, rash, arthralgia, N/V/D/C, dysuria/frequency, abdominal pain/cramping, rectal pain/itching. • • • • Dietary Hx • No recent changes • Well balanced. • Recent: cheerios, hamburger, apple juice, graham crackers, chicken nuggets, mashed potatoes, corn, scrambled eggs. • No red colored drinks/foods: •Mimic hematochezia: •Mimic melena: •Red food coloring (frosting, gelatin, candy) •Red drinks (koolaid, punch) •Beets, tomatoes, ketchup, strawberries, bell peppers •Bismuth •Iron •Spinach •Blueberries, grapes •Licorice, dark chocolate PMH • Fmr 32 wk M, NICU x 4 wks, never intubated. NG feeds while in NICU. ?time to mec. Since d/c, growing/developing well. • Mild persistent asthma • + Constipation during toilet training – stool softener x 6 mos, off meds x 1yr. Soft, non-painful BM’s daily to every other day. • No prior history of bloody/black stools or diarrhea • No medications or vitamins • No allergies • Immunizations UTD • Developmentally appropriate • FamHx: o o o o Parents: asthma MGM: htn, DMII. MGF: d. colon cancer in his 60’s Paternal FamHx: unk No IBD, other cancers, bleeding/clotting d/o • SocHx: o o o o o LAHW Mom, MGM Home-based daycare 5 d/wk No pets No recent travel, camping, sick contacts Toilet trained x >1yr Physical Exam • • • • • • • • • • • VS: T 37, HR 120, RR 24, BP 98/66, SpO2 100% RA, Wt 75th %ile, Ht 60th %ile GA: alert, playful, NAD HEENT: MMM, no mucosal pallor, no apthous ulcers. Nares clear, no crusted blood CV: RRR, no murmur/rub. Cap refill ~1sec. Periph pulses 2+. RESP: CTAB ABD: NABS, S/NT/ND, no organomegaly/masses. RECTAL: normal external exam – no fissure, no visible blood/polyp. DRE – no masses, BRB on glove. SKIN: no bruising, petechiae/purpura, rash. WWP. MSK: wnl, joints normal ROM NEURO: wnl Narrowed DDx: • 4 yo well appearing, hemodynamically stable child with normal physical exam presents with acute onset of hematochezia: BRB coating/mixed with normal stool Evaluation: • FOBT: + • CBC/diff: 8>10.8<252, diff: 60N, 35L, 4M, 1E, MCV 72. • Coags: wnl • ER panel I and II: wnl • Stool for: culture incl Yersinia, E. coli 0157:H7, O&P, c.diff, adeno, rota: pending Evaluation: • Pt now passes a soft brown stool mixed with streaks of red blood, followed by about ~1-2 T BRB • Admitted to GI service for eval given continued bleeding, anemia. • What else would you like to order? Meckel’s scan • Prep: NPO x 4 hrs, empty bladder, ?sedate • Pre-tx: cimetidine: 20 mg/kg IV x 24-48 hr: stim gastric mucosal tracer uptake. • Tc99m: technetium pertechnate tracer: ½ life 6h • Normal physiologic uptake is in the thyroid and the gastric mucosa • Our patient: negative scan. Kiratli et al: Ann Nucl Med 2009, pg 99 A positive scan: http://www.uth.tmc.edu/radiology/publish/meckel_diverticulum/images/md05.jpg Patient status: • Continues to intermittently pass BRBPR (now x 3 total, isolated and mixed w/ pasty brown stool, ~ 1T) • NPO and grumpy on MIVF, no pain, no diarrhea. • Stool studies: c.diff (-) x 2, rota, adeno, O&P, culture pending • Next steps? Colonoscopy: • Solitary 1.5cm pedunculated polyp in the sigmoid colon. Removed by snare polypectomy. • Histology: juvenile polyp: Hamartomatous “typical cystic architecture, mucus filled glands lined w/ columnar epithelium.” Durno 2007: Can J Gastroenterology p. 234. Counseling? Solitary Juvenile Polyp • Prevalence: 2% <10yo • Peak 2yo – 5yo • Cause of rectal bleeding: 4% • Histology: hamartoma, juvenile polyp subtype: nondysplastic. • “Risk of malignancy is negligible”. • Follow-up not necessary unless symptoms of rectal bleeding, abdominal pain re-develop. Name that syndrome • Autosomal dominant (SMAD4, BMPR1a gene) • Presents ~9yo: anemia, rectal bleeding, prolapse • >3 hamartomatous juvenile polyps • Up to 68% risk of GI cancers incl CRC (15% at 35 yo) JPS/FJP: Familial Juvenile Polyposis Coli • AD (SMAD4, BMPR1a) • >3 hamartomatous juvenile polyps • Up to 68% risk of GI cancers incl CRC Name that syndrome • AD (APC gene) • 1000’s of adenomatous colonic polyps • 100% CRC risk (mid 30’s), + associated cancers: hepatoblastoma • Attenuated and variant forms exist FAP: Familial Adenomatous Polyposis • AD (APC gene) • 1000’s of adenomatous colonic polyps • 100% CRC risk (mid 30’s), + associated cancers: hepatoblastoma • Attenuated and variant forms exist Name that Syndrome: • AD (APC gene) • 1000’s of adenomatous colonic polyps • ~100% risk of CRC (~30yo) • Extracolonic manifestations: o Benign tumors of the bone (esp jaw/tooth osteoma), nose, eyes, adrenals, & skin. Desmoids. o Malignancies: Duodenal/periampullary, pancreatic, thyroid, liver (hepatoblastoma) Gardner Syndrome • Autosomal dominant (APC gene) • 1000’s of adenomatous colonic polyps • ~100% risk of CRC (~30yo) • Extracolonic manifestations: o Benign tumors of the bone (esp jaw/tooth osteoma), nose, eyes, adrenals, & skin. Desmoids. o Malignancies: Duodenal/periampullary, pancreatic, thyroid, liver (hepatoblastoma) Name that syndrome • AD (LKB1, STK11 60%) • Hamartomatous polyps throughout GI tract • Pigmented macules of the lips & buccal mucosa • 30% present by age 10y: intussusception • 50-90% risk of CRC/extraintestinal malignancy Peutz‐Jeghers Syndrome • AD (LKB1, STK11 60%) • Hamartomatous polyps containing smooth muscle throughout GI tract • Pigmented macules • Intussusception • 50-90% risk of CRC/ extraintestinal malignancy Others to know: • Turcot Syndrome (FAP variant): FAP+ brain tumors (esp medulloblastoma) • Attenuated Familial Adenomatous Polyposis: AFAP: later age of onset • MYH-associated Adenomatous Polyposis: MAP: autosomal recessive • Lynch syndrome (HNPCC) – NOT associated with polyps Counseling: prognosis Disorder Histology Genetics Inheritance Prognosis and screening Solitary Juvenile Polyp Hamartoma (JP type) N/A N/A FJP: Familial >3 No increased risk of cancer. No further screening. SMAD4, AD BMPR1A 50‐70% lifetime risk of cancer. ~12yo (or 1st presentation): colonoscopy, EGD q1‐3yr Juvenile Polyposis Hamartoma (JP type) FAP: >100 Adenoma APC AD 100% lifetime risk of cancer. ~ 10 yo: genetic test, annual scope, prophylactic colectomy. ~20yo: annual EGD Hamartoma (PJS type) LKB1/ SKT11 AD 50‐90% lifetime risk of GI/reproductive cancer. ~8yo: colonoscopy & EGD q3yr Familial adenomatous polyposis Peutz‐ Jeghers Syndrome Boards questions: • Which of the following is not true about a Meckel diverticulum? • A.It occurs in about 2% of the population • B. It is usually found within 2cm of the ileocecal valve • C. Painless rectal bleeding most often occurs in the 2yo age group • D. The diagnostic sensitivity of radionucleotide scanning can be improved with prior administration of an H2 blocker • E. It is the most common congenital anomaly of the gastrointestinal tract Boards questions: • Which of the following is not true about a Meckel diverticulum? • A. It occurs in about 2% of the population • B. It is usually found within 2cm of the ileocecal valve • C. Painless rectal bleeding most often occurs in the 2yo age group • D. The diagnostic sensitivity of radionucleotide scanning can be improved with prior administration of an H2 blocker • E. It is the most common congenital anomaly of the gastrointestinal tract. Boards questions: • • • • • • • The parents of a 14mo child present to the ER with the concern that their son has not had a wet diaper in ~12 hrs. They describe him as having frequent loose stools, several of which have contained red blood. He is irritable and pale on physical examination. Laboratory findings include elevated levels of blood urea nitrogen (BUN) and creatinine. He is hospitalized for dehydration and possible sepsis. A stool culture is subsequently positive for E. Coli O157:H7. Which of the following findings is most likely to be identified during additional evaluation of this patient? A. Helmet and burr cells on a peripheral smear B. Thrombocytosis C. Decreased C3 and CH50 D. Elevated ASO titers E. Elevated anti-DNAse B Boards questions: • • • • • • • The parents of a 14mo child present to the ER with the concern that their son has not had a wet diaper in ~12 hrs. They describe him as having frequent loose stools, several of which have contained red blood. He is irritable and pale on physical examination. Laboratory findings include elevated levels of blood urea nitrogen (BUN) and creatinine. He is hospitalized for dehydration and possible sepsis. A stool culture is subsequently positive for E. Coli O157:H7. Which of the following findings is most likely to be identified during additional evaluation of this patient? A. Helmet and burr cells on a peripheral smear B. Thrombocytosis C. Decreased C3 and CH50 D. Elevated ASO titers E. Elevated anti-DNAse B Boards questions: • A 20 mo M presents to the ER after several episodes of bloody diarrhea. His parents deny associated symptoms of fever, appetite change, or decrease in activity. Several months prior to presentation he had several bloody stools, which were thought to be associated with “a bad stomach virus” and cleared spontaneously. On physical exam he is afebrile, alert, playful and interactive. His abdominal exam is positive only for increased bowel sounds. A stool sample is positive for blood. • Which of the following is the most likely cause of this patient’s clinical signs and symptoms? • • • • • A. Ectopic gastric tissue B. Invagination of a part of the intestine into itself C. An area of erosion within the gastric mucosa D. Helicobacter pylori located within the stomach and duodenum E. Increased production of gastrin from a duodenal gastrinoma Boards questions: • A 20 mo M presents to the ER after several episodes of bloody diarrhea. His parents deny associated symptoms of fever, appetite change, or decrease in activity. Several months prior to presentation he had several bloody stools, which were thought to be associated with “a bad stomach virus” and cleared spontaneously. On physical exam he is afebrile, alert, playful and interactive. His abdominal exam is positive only for increased bowel sounds. A stool sample is positive for blood. • Which of the following is the most likely cause of this patient’s clinical signs and symptoms? • • • • • A. Ectopic gastric tissue B. Invagination of a part of the intestine into itself C. An area of erosion within the gastric mucosa D. Helicobacter pylori located within the stomach and duodenum E. Increased production of gastrin from a duodenal gastrinoma Goals & Objectives: • Develop an age and acuity-based differential diagnosis for acute onset LGI bleeding. • Tailor an appropriate history and physical exam in a pediatric patient complaining of hematochezia. • Recognize the common clinical presentation of a Meckel’s diverticulum (including the rule of two’s), and interpret a Meckel’s scan correctly. • Identify juvenile polyps as a common cause of rectal bleeding in otherwise healthy children with normal stool patterns. • Review the hereditary colonic polyposis syndromes, understand the pathophysiologic and prognostic differences among these syndromes. Sources: • • • • • • • • • Bonis, Peter A et al. “Screening and management strategies for patients and families with familial colon cancer syndromes.” www.uptodate.com, last updated 10/5/10, accessed 3/29/11. Boyle, John T. “Gastrointestinal Bleeding in Infants and Children”. Pediatr. Rev. 2008: 20(2): 3951. Calva, Daniel and James R. Howe. “Hamartomatous Polyposis Syndromes”. Surg Clin North Am. 2008: 88(4); 779-vii. Durno, Carol A. “Colonic Polyps in Children and Adolescents.” Can J Gastroenterol 2007: 21(4); 2007: 233-239. Kiratli, Pinar et al. “Detection of ectopic gastric mucosa using 99m TC pertechnate: review of the literature. Ann Nucl Med: 2009; 23; 97-105 Manfredi, M. “Hereditary Hamartomatous Polyposis Syndromes: Understanding Disease Risk as Children Reach Adulthood.” Gastroenterology and Hepatology 2010: 6(3); 185-196. Ramsook, Chris et al. “Approach to lower gastrointestinal bleeding in children.” www.uptodate.com, last updated 9/30/10, accessed 3/25/11. Taminiau, J and Marc Benninga. “Clinical Management of Gastrointestinal Polyps in Children.” Essential Pediatric Gastroenterology, Hepatology, and Nutrition, ed. S. Guandalini. 2005: 23;, 269-275 Turck, D and L. Michaud. “Lower Gastrointestinal Bleeding.” Walker’s Pediatric Gastrointestinal Disease, ed. Allan Walker. 2008: 5th ed, volume II, Chapter 46.3b pp 13091318.