Overview Existing evidence for UID What`s not there? Contextual

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 •
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•
•
•
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•
•
•
•
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: •
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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?
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•
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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: •
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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.
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