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GEN PEDS > GI > Flashcards

GI Flashcards

1
Q

What are the 2 labs needed for testing to screen for Celiac disease?

A

Anti-tissue transglutaminase (anti-tTG)

IgA antibody

(Patients with selective IgA deficiency may have false-negative results when tested for anti-tTG)

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2
Q

Painless, brisk GI bleed in otherwise active child

Diagnosis ? Mechanism ?

A

Meckel diverticulum

Caused by ectopic gastric tissue

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3
Q

Mechanism for Zollinger-Ellison syndrome

Symptoms? (3 main)

A

Increased production of gastric from a gastrinoma, causing multiple upper GI ulcers

Symptoms: abdominal pain, vomiting, melena

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4
Q

Condition developed during adolescence in patients diagnosed with cyclic vomiting syndrome during childhood?

A

Migraine headache

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5
Q

Typical age of onset of pyloric stenosis

A

3 weeks to 2 months

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6
Q

Typical age of onset of duodenal atresia

A

1st day of life

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7
Q

After discontinuing of breast milk, baby develops dry, scaling skin that evolves into vesiculobullous lesions on erythematous base - which can rupture and crust over.

What is diagnosis? Mechanism?

A

Acrodermatitis enteropathica

Mutation to a gene encoding for a transmembrane protein responsible for Zinc uptake → Zinc deficiency!

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8
Q

What are the components of VACTERL ?

A

Vertebral defects

Anal atresia

Cardiac defects

Tracheo-esophageal fistula (present with esophageal atresia)

Limb abnormalities

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9
Q

Gallbladder distention by sterile bile in a young child with prolonged fever and widespread rash

What is the gallbladder finding called? What is the diagnosis?

A

Gallbladder hydrops

The underlying etiology is Kawasaki disease

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10
Q

Patients with trisomy 21 have increased risk of which chronic GI problem?

A

Celiac disease

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11
Q

What are the components of te Allgrow syndrome? (3)

A

(The triple A)

Achalasia

Alacrima (reduced/no tears)

Adrenal insufficiency

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12
Q

What is the eye finding below? What is the associated diagnosis?

A

Kayser-Fleischer ring (the brown ring of copper deposition)

Associated with Wilson’s disease

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13
Q

Endoscopy w biopsy show short, flat villi with deepened crypts and lymphocytic infiltrates

What is the diagnosis ?

A

Celiac disease

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14
Q

Deeply pigmented, bluish brown to black spots on lips, buccal mucosa, and around mouth.

What is the diagnosis?

What are the most common symptoms? (3)

What are long term complications?

A

Puetz-Jeghers syndrome

Most common sx = colicky abdominal pain (intussusception), melena, hematemesis

Long term complication = risk of developing GI cancers, gonadal tumors, breast & cervical cancer

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15
Q

Contrast enema with a tapered obstruction at the rectosigmoid junction that has a bird-peak appearance.

Diagnosis?

A

Sigmoid volvulus

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16
Q

Abdominal U/S showing a mass with alternating areas of hyperechogenicity and hypoechogeniticity

What is the diagnosis ?

A

Intussussception

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17
Q

HIDA scan shows no drainage drainage from liver into intestine in an infant

What is the diagnosis ?

A

Biliary atresia

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18
Q

Multiple dilated air-filled loops of bowel (with or without air-fluid level) on KUB and U/S

+ finding of a cord separating the proximal and distal segments of jejunum

What is the diagnosis ? What is the risk factor ?

A

Jejunoileal atresia

Risk factor = maternal cocaine use

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19
Q

Where are the genetic defects of Gilbert syndrome & Cigler-Najjar ?

What type of hyperbilirubinemia associated with these conditions?

A

Mutations in the UGT1A1 (encoding UDP-glucuronosyltransferase, which conjugates bili)

Elevation of unconjugated bili (elevated total bili, ~normal d.bili)

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20
Q

What are red flags that require upper endoscopy in patients with GERD? (3)

A

Hematemesis

Weight loss

Dysphagia

(scope to diagnosis esophagitis)

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21
Q

Patient with ulcerative colitis p/w fatigue, puritus, elevated LFTs and GGT

What is the diagnosis ? What is the next step?

A

Primary sclerosing cholangitis

Get MRCP to confirm

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22
Q

What are the skeletal abnormalities seen in Shwachman-Diamond syndrome?

A

Abnormal development of growth plat and metaphyses

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23
Q

History suggestive of cystic fibrosis, but repeated sweat chloride tests are negative

What is the diagnosis ?

What are some other associated problems? (4)

A

Shwachman-Diamond syndromes

Associated with:

  1. Neutropenia +/ anemia/thrombocytopenia
  2. Exocrine pancreatic insufficiency (hence similar to CF)
  3. Recurrent infections
  4. Abnormal development of growth plate and metaphyses
24
Q

What patients with Shwachman-Diamond Syndrome are at risk for ?

A

AML

25
Q

What is the mode of inheritance for Shwachman-Diamond Syndrome?

A

Autosomal recessive

26
Q

Tooth enamel deffects, slow weight gain, abdominal pain

What is the diagnosis?

A

Celiac disease

27
Q

Erythematous, tender, subcutaneous nodules on the extensor aspects of legs between knees and ankles

What is the finding ?
What are the associated GI diagnoses? (3)

A

Erythema nodosum

Associated with:

  • IBD
  • Behcet disease
  • Bacterial gastroenteritis
28
Q

Follow up of a single juvenile polyp in a child

A

Nothing!

(as opposed to juvenile polyposis syndrome (>3-5 polyps), which will require frequent scoping for surveillance)

29
Q

Treatment for Campylobacter jejuni in health patient

A

Supportive care (no abx)

30
Q

Treatment for Campylobacter jejuni in chronically ill / immunocompromised patient

A

Azithromycin (or erythromycin)

(2nd line = fluoroquinolone)

31
Q

“Olive-shaped” mass above or right of umbilicus on exam

What is the diagnosis?

A

Pyloric stenosis

32
Q

“Sausage-shaped” mass in right upper quadrant

What is the diagnosis?

A

Intussussception

33
Q

Teenager with acne, developing dysphagia

What is going on ?

A

Pill-induced esophagitis

34
Q

What are the extrahepatic manifestations of Hepatitis B ? (3)

A
  1. Symmetrical polyarthralgia or arthritis
  2. Macular / urticarial rashes
  3. Thrombocytopenia
35
Q

Which drug is recommended to avoid for at least 6 weeks following Varicella vaccine? Why?

A

Salicylates (aspirin etc.)

Concern for Reye syndrome

36
Q

Recurring painful oral ulcers with shallow erosions, well-circumscribed margin, yellowish-gray floow.

What are these ulcers called?

A

Aphthous stomatitis

37
Q

Which chronic conditions associated with Aphthous Stomatitis? (5)

A
  1. Crohn disease
  2. Behcet
  3. Cyclic neutropenia
  4. PFAPA
  5. Celiac disease
38
Q

What is the sign seen in this KUB ? What is the underlying diagnosis?

A

Double-bubble sign

Duodenal atresia

39
Q

What are risk factors for pyeloric stenosis? (5)

A
  1. White
  2. Male
  3. Pre-term infants
  4. Offspring of affected parent
  5. Maternal smoking
40
Q

Infant has excessive drooling, respiratory distress, coughing / choking with feeds.

What is the diagnosis?

A

Tracheoesophageal fistula (TEF)

41
Q

What is the most common anatomical configuration of TEF ?

A

Esophageal atresia with a distal TEF

42
Q

Child with vomiting, mental status change, jaundice after viral infection.

What is going on? What is the most common lab finding?

A

Reye syndrome

Elevation in ammonia is most common.

43
Q

Patient with psychiatric symptoms, Parkinson-like tremor, elevated LFTs, high bili.

What is the diagnosis?

A

Wilson’s disease

44
Q

What are 5 disorders mediated by HLA-DQ2/DQ8 genotype?

A
  1. Type I DM
  2. Celiac disease
  3. Autoimmune thyroiditis
  4. Sjogren syndrome
  5. IgA nephropathy
45
Q

Which type of condition is needed for Hepatitis D to occur?

A

Hepatitis B

46
Q

What level of sweat chloride test is considered positive for cystic fibrosis?

A

Larger than 40

47
Q

Patient with symptoms similar to CF, but tested negative on sweat chloride test.

What is the condition? What are the associated hematologic disorders?

A

Shwachman-Diamiond Syndrome (SDS)

Associated with cyclic neutropenia (chronic, intermittent, associated with recurring infections), also sometimes anemia and thrombocytopenia

48
Q

What are 2 main issues with using dexmedetomidine for sedation?

A
  1. Bradycardia
  2. Hypotension
49
Q

Most common genetic mutation associated with hereditary pancreatitis?

A

PRSS1 gene defect

50
Q

Crohn’s vs Ulcerative Colitis

Which one has “skip areas” (i.e. patchy involvement) of colon noted on colonoscopy?

A

Crohn

51
Q

Crohn’s vs Ulcerative Colitis

Which one is more associated with short stature / arrest in height growth?

A

Crohn

52
Q

What is the typical serology pattern for Hepatitis B infection in “window” period

A

Positive Anti-HBc IgM

Negative HBsAg

53
Q

What are the GI conditions associated with polyhydramnios?

A

GI atresia which interferes with fetus ability to swallow fluid

(especially esophageal atresia or duodenal atresia)

54
Q

GI condition associated with anterior uveitis?

A

Crohn’s disease

55
Q

In Wilson’s disease, what are the levels of … (high, low, wnl)

  • transaminases
  • ceruloplasmin
  • bilirubin
  • serum copper
  • urine copper
A
  • HIGH transaminases
  • LOW ceruloplasmin (major carrier of copper in serum)
  • NORMAL bilirubin
  • LOW serum copper (due to low ceruloplasmin as carriers)
  • HIGH urine copper (free copper got excreted)
56
Q

Which anelgesic and sedative agent that is safe for patient with hypotension?

A

Ketamine

GEN PEDS (16 decks)

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