Inflammatory disorders of the intestine

Question 1

A few hour old neonate presents with non-bilious vomiting. There was ulceration of the umbilical cord. Radiology shows double bubble sign.

Answer 1

Duodena atresia, proximal to the ampulla of Vater

Question 2

Genetic mutation associated with Hirschsprung disease

Answer 2

Loss of function of RET

Also EDNRB or EDN3

Question 3

Syndrome associated with Hirschsprung disease in 10% of cases

Answer 3

Trisomy 21 –> Down syndrome

Question 4

Immunohistochemical stain for this of ganglion cells used for confirmation of Hirschsprung disease

Answer 4

Acetyl-cholinesterase

Question 5

Neonate has been unable to pass meconium. There is visible peristalsis, abdominal distention, and bilious vomiting.

Answer 5

Hirschsprung disease

Question 6

Complications of Hirschsprung disease

Answer 6

Enterocolitis
Fluid and electrolyte disturbances
Perforation
Peritonitis

Question 7

Common causes of malabsorption syndrome in US

Answer 7

Pancreatic insufficiency
Celiac disease
Crohn disease

Question 8

Hallmark of malabsorption

Answer 8

Steatorrhea

Question 9

Diarrhea type composed of isotonic stool that persists during fasting

Answer 9

Secretory diarrhea

Question 10

Diarrhea type related to lactase deficiency that is improved by fasting

Answer 10

Osmotic diarrhea

Question 11

Diarrhea type associated with steatorrhea that is relieved by fasting

Answer 11

Malabsorptive diarrhea

Question 12

Diarrhea type associated with inflammatory disease, characterized by purulent, bloody stools that persists during fasting

Answer 12

Exudative diarrhea

Question 13

Genetic defect associated with celiac disease

Answer 13

Class II HLA-DQ2 or HLA-DQ8 allele

Question 14

Conditions associated with celiac disease

Answer 14

DM type I
Thyroiditis
Sjogren syndrome
IgA nephropathy

Question 15

Part of gluten with most disease producing components of celiac

Answer 15

Gliadin

Question 16

Sensitive marker of celiac disease, even in the absence of epithelial damage and villous atrophy

Answer 16

Intraepithelial lymphocytosis of CD8+ T cells

Question 17

Microscopy findings in celiac disease

Answer 17

Crypt hyperplasia
Villous atrophy

Question 18

Extraintestinal complaints associated with celiac disease

Answer 18

Arthritis
Aphthous stomatitis
Iron deficiency anemia
Delayed puberty
Short stature
Dermatitis herpetiformis

Question 19

Silent celiac disease

Answer 19

Positive serology and villous atrophy without symptoms

Question 20

Latent celiac disease

Answer 20

Positive serology without villous atrophy

Question 21

Markers used for diagnosis of adult celiac disease

Answer 21

IgA anti-tissue transglutaminase
IgA anti-endomysial antibodies
IgG anti-tissue transglutaminase antibodies with IgA deficiency

Question 22

Malignancies associated with celiac disease

Answer 22

Enteropathy associated T cell lymphoma

Small intestine adenocarcinoma

Question 23

Intestinal syndrome associated with high oral vaccine failure rate

Answer 23

Environmental enteric dysfunction

Question 24

Causal organism of Whipple disease

Answer 24

Trpheryma whipplei

Question 25

Disease caused by accumulation of bacterial laden macrophages within the small intestinal lamina propria and mesenteric lymph nodes that causes lymphatic obstruction, leading to malabsorptive diarrhea.

Answer 25

Whipple disease

Question 26

Shaggy mucosal surface of intestinal epithelium with white-yellow mucosal plaques

Answer 26

Whipple disease

Question 27

Microscopy shows dense accumulation of distended foamy macrophages in the lamina propria of the small intestine with PAS positive and diastase resistant granules

Answer 27

Whipple disease

Question 28

Extraintestinal symptoms of Whipple disease

Answer 28

Arthritis Fever Lymphadenopathy Neurologic, cardiac, or pulmonary disease

Question 29

Findings of stool in lactase deficiency

Answer 29

Decreased pH due to intestinal bacteria fermenting lactose Increased stool osmolality

Question 30

Inheritance of congenital lactase deficiency

Answer 30

Autosomal recessive

Question 31

Inheritance of abetalipoproteinemia

Answer 31

Autosomal recessive

Question 32

Rare disease marked by an inability to assemble triglyceride rich lipoproteins

Answer 32

Abetalipoproteinemia

Question 33

Mutation associated with abetalipoproteinemia

Answer 33

Microsomal triglyceride transfer protein (MTP)

Question 34

Blood smear shows acanthocytes. Microscopy shows triglyceride accumulation leading to epithelial vacuolization. Plasma is completely devoid of lipoproteins containing apolipoprotein B.

Answer 34

Abetalipoproteinemia

Question 35

GI features of cystic fibrosis

Answer 35

Thick, viscous stools Intestinal obstruction Pancreatic intraductal concretions Chronic pancreatitis Exocrine pancreas deficiency (eventually)

Question 36

Inheritance and mutation of familial form of autoimmune enteropathy

Answer 36

X-linked Loss of function in FOXP3 gene

Question 37

IPEX of familial autoimmune enteropathy

Answer 37

Immune dysregulation Polyendocrinopathy Enteropathy X-linkage

Question 38

Finding in autoimmune enteropathy not seen in celiac disease

Answer 38

Neutrophils infiltrating the intestinal mucosa

Question 39

50 yo female presents with chornic, watery, non-bloody diarrhea without weight loss. Infection and celiac have been ruled out. Colon biopsy shows subepithelial collagen layer of normal thickness and increase in intraepithelial T lymphocytes.

Answer 39

Lymphocytic microscopic colitis

Question 40

50 yo female, chronic smoker, presents with chronic, watery, non-bloody diarrhea without weight loss. Infection and celiac have been ruled out. Colon biopsy shows dense subepithelial layer and increased number of intraepithelial T lymphocytes.

Answer 40

Collagenous microscopic colitis

Question 41

Rome IV criteria for IBS

Answer 41

Abdominal at least 1/wk for 3 mos At least 2 symptoms related to defecation Change in stool frequency and/or form

Question 42

Strongest risk gene for IBD

Answer 42

Polymorphisms of NOD2

Question 43

Mutation associated with very early onset IBD

Answer 43

Mutations in single genes required for epithelial ion transport, immune signaling, or host defense (eg IL-10 receptor)

Question 44

Colonoscopy reveals diffuse continuous ulceration of the colon and rectum with filiform polyposis and mucosal bridges.

Answer 44

Ulcerative colitis

Question 45

Colon biopsy shows crypt abscess, limited to mucosa, pseudopyloric metaplasia, Paneth cell metaplasia, and villiform mucosal architecture.

Answer 45

Ulcerative colitis

Question 46

Chronic, relapsing condition characterized by attacks of bloody diarrhea with stringy mucoid material, lower abdominal pain, and tenesmus. Cramps are temporarily relieved by defecation.

Answer 46

Ulcerative colitis

Question 47

Risk of this conditions is increased in UC

Answer 47

PSC Colonic adenocarcinoma

Question 48

Complication of UC

Answer 48

Toxic megacolon

Question 49

Condition indicated by lead pipe sign on radiology

Answer 49

Toxic megacolon

Question 50

Areas of the intestine commonly involved in Crohn's disease

Answer 50

Terminal ileum Ileocecal valve Cecum

Question 51

Gross appearance of edema and loss of normal mucosal folds in the intestines with serpentine ulcers. Cobblestone appearance and hypertrophy of muscularis propria.

Answer 51

Crohn's disease

Question 52

Intestinal biopsy shows distortion and disorganization of mucosal glands, bizarre branching shapes, transmural inflammation, cryptitis, crypt abscess, and ulceration.

Answer 52

Crohn's disease

Question 53

Abundant neutrophils infiltrate and damage crypt epithelium

Answer 53

Cryptitis

Question 54

Microscopic hallmark of Crohn's disease

Answer 54

Non-caseating granulomas

Question 55

Pt has intermittent attacks of relatively mild diarrhea, fever, and abdominal pain that can be triggered by stress. They have several cutaneous nodules.

Answer 55

Crohn's disease

Question 56

Complications of Crohn's disease

Answer 56

Fibrosing structure Fistulae Perforation and peritoneal abscess Gallstones or renal stones

Question 57

Radiology finding associated with Crohn's disease

Answer 57

String sign

Question 58

Most common cause of intestinal obstruction in children <2 yo

Answer 58

Intussusception

Question 59

Most common intussusception type

Answer 59

Ileocolic

Question 60

Infant presents with intermittent colicky abdominal pain every 10-20 minutes. There is palpable abdominal mass on examination. Parent reports red currant jelly stools and non-bilious emesis.

Answer 60

Intussusception

Question 61

Closed loops through which other viscera slide and get entrapped, associated with adhesions

Answer 61

Fibrous bridges

Question 62

Complications of diverticulosis

Answer 62

Perforation Segmental diverticular disease associated colitis Obstruction Hemorrhage

Question 63

Complications of appendicitis

Answer 63

Pylephlebitis Portal V thrombosis Liver abscess Bacteremia and septicemia

Question 64

Neurogenic failure, or loss of peristalsis in the intestine in the absence of any mechanical obstruction

Answer 64

Paralytic ileus

Question 65

Pt presents with mild, diffuse, continuous abdominal pain and N/V. Bowel sounds are absent. Abdominal x-ray shows distended gas-filled loops of small and large intestine.

Answer 65

Paralytic ileus