Disease/ Pathological or Clinical Outcomes Dx and Tx Risk factors or

Disorder/ Bug other comments

Esophageal Abnormal neural control of motility; lower esophageal Ca2+ Blockers or RF: Chaga’s,
Achalasia sphincter fails to relax properly→ functional Botox- relaxes the diabetic
obstruction (progressive dysphagia w/ foods → liquids, LES neuropathy,
regurg and CP) → Enlargement of the esophagus amyloidosis,
(incre risk of aspiration pneumonia); Degeneration of sarcoidosis,
the myenteric plexus and loss of inhibitory neurons myasthenia
that release ​VIP​ and ​nitric oxide​, which dilate the gravis
lower esophageal sphincter may contribute; Triad:
incomplete LES relaxation, increased LES tone,
decreased or lack of normal esophageal peristalsis;
Mallory-Weiss tears/ lacerations; progressive severe
wt loss w/ worsening CP, mucosal ulceration, lung
infection, esophageal rupture and esophageal cancer
→ death

Esophageal Muscle damage leading to abnormal motility and

Stricture narrowing and obstruction of esophagus → caustic
ingestion or acid reflux (See reflux esophagitis)

Hirschsprung Neural defect- ​lack of myenteric neurons in the distal

(DWG) colon congenital defect→ the migration of neural crest
disease ​ atients
precursor cells does not occur properly​; p
typically younger than 2 years and either present after
birth with the inability to pass meconium or later with
severe constipation

Gastroparesis Motility disorder of the stomach; delayed gastric RF: DM

emptying; ​n/v/d, bloating and constipation; (autonomic
complications include development of bezoars from neuropathy) ,
retained gastric contents, bacterial overgrowth stomach
(malabsorption and diarrhea), erratic blood glucose surgery
control, and wt loss (n/v) (vagotomy)
Hypertrophic Most common cause of gastric outlet obstruction; food Olive-shaped
pyloric cannot pass freely out of the stomach due to mass in the
stenosis spasmodic narrowing of the pyloric outlet → epigastric region
hypertrophy of the pyloric musculature; more common most prominent
in boys shortly after birth, presents w/ nonbilious after an episode
vomiting→ hypochloremic hypokalemic metabolic of vomiting
alkalosis and dehydration; assoc w/ TEF, hypoplasia
of the inferior labial frenulum, trisomy 18, Visible gastric
Smith-Lemli-Opitz syndrome and Cornelia de Lange peristaltic wave
syndrome that progresses
across the
abdomen

Ultrasound is Dx

Surgery-
pyloromyotomy

Irritable Bowel Chronic autoimmune condition;idiopathic; Endoscopy, Peak onset

Disease​: ​IBD characterized by recurrent episodes of abdominal diarrhea for >4 20-30 yrs
pain, rectal bleeding, bloating, and diarrhea alternating wks, chronic
with constipation in the absence of detectable organic changes on biopsy Genetic (NOD2,
disease and structural abnormalities; altered mucosal CARD15, HLA,
immune response to antigens; loss of balance btw Tx: steroids, TNF),
inflammatory (IL-1beta, IL-6, TNF-alpha) vs. tolerance infliximab, environmental
(IL-10 and TGF-beta); extraintestinal manifestations: vedolizumab, (previous
primary sclerosing cholangitis, polyarthritis, ankylosing immunomodulator, infection- ETEC)
spondylitis, uveitis, erythema nodosum and pulmonary anti-inflammatories or immune
inflammatory fibrosis , surgical triggers
● Crohn’s (DWG) Disease:​issues with T cells resection?
(overexpression of Th1/Th17 vs Tregs) and
innate immune system (NOD2/ CD4+);​ ​seen in
any portion of the GI tract ((terminal) ileum and
colon most common); ​discontinuous​,
transmural fissures (deep) and granulomatous;
scattered cobblestone appearance (skip
lesions); repeated episodes of injury and
recovery pattern → destruction of lamina
propria; stomatitis, liver/ bile duct inflammation,
fatigue, prolonged diarrhea + abd pain,
wasting, fever, microscopic rectal bleeding,
fistula/fissure formation
Irritable Bowel ● Ulcerative Colitis: ​Type 4 hypersensitivity; Endoscopy, Peak onset
Disease​: ​IBD ulcers form along inner surface or lumen of the diarrhea for >4 20-30 yrs
cont... colon or rectum in the mucosa/submucosa; wks, chronic
circumferential and continuous​ pattern; changes on biopsy Genetic (NOD2,
bloody diarrhea, fecal incontinence, frequent CARD15, HLA,
small vol BMs, abd pain, urgency, tenesmus; Tx: steroids, TNF),
etiology/ target unknown; imbalance of infliximab, environmental
regulatory/ inflammatory cytokines (CD8+); vedolizumab, (previous
positive p-ANCA→ molecular mimicry immunomodulator, infection- ETEC)
(neutrophils) or bystander inflammation (so anti-inflammatories or immune
much); gross imbalance of inflammation limited , surgical triggers
to the mucosa (pseudopolyps); crypt distortion, resection?
cryptitis and abscesses

Acid induced Chronic, mild, gnawing or burning abdominal or chest RF: ​elevated
injury a.k.a. pain → discrete regions of erosion thru the entire gastric acid
Acid- peptic mucosa; may present as an ulcer or as a more diffuse secretion or
disease and less clearly demarcated inflammation anywhere diminished
(peptic, gastric along the GI tract from the lower esophagus → mucosal
and duodenal duodenum; complications include GI tract bleeding, defense, ​H.
ulcers) resulting in hematemesis or melena (tarry stools from pylori ​infections,
the effect of acid on blood),perforation, infection → NSAID overuse,
severe abdominal pain and signs of acute abdomen smoking
(absence of bowel sounds, guarding, rebound
tenderness), drop in hematocrit; usually solitary ulcers

Reflux Heartburn from recurrent mucosal injury, ​burning in Esophageal pH RF: hiatal
Esophagitis the back of the throat and a sour (acidic) taste from monitoring hernia, or
a.k.a. GERD the reflux​ ; often worse at night, when lying supine or c​onditions that
a.k.a. reflux after consuming foods or drugs or caffeine; can Barium study result in
develop stricture in the distal esophagus, progressive persistent or
obstruction, dysphagia, ​hemorrhage or perforation; Endoscopy repetitive acid
hoarseness, coughing, or wheezing and aspiration exposure to the
pneumonia; hyperemia; few or some inflammatory Laryngotracheo- esophageal
cells (lymphocytes, neutrophils, occasional bronchoscopy mucosa,
eosinophils) in mucosa on biopsy; esophageal web→ alcohol,
squamous cell carcinoma; can result in a change in Empiric anti-reflux tobacco,
the esophageal epithelium from squamous to therapy- proton obesity, CNS
columnar histology (resembling that of the stomach pump inhibitor depression,
and/or intestine) a.k.a. Barrett’s (DWG) esophagus pregnancy
(common in men and smokers) → intestinal Surgery
metaplasia (columnar (gastric foveolar) epithelium with
goblet cells) → increased risk for adenocarcinoma;
Peds sx:bilious emesis, frequent projectile emesis, GI
bleeding, lethargy, abd distention,
hepatosplenomegaly, FTT, diarrhea, fever, bulging
fontanelle, and seizures, Sandifer (DWG) syndrome
Infectious Agents: Candida (thrush)- white plaques, Herpes Identification of RF: Immuno-
Esophagitis Simplex Virus(multinucleated giant cells and punched yeast and pseudo- deficiency or
out ulcers), CMV (multinucleated giant cells and linear hyphae or suppression,
ulcers); Mucosal erosions, ulceration, surface characteristic viral age
colonization (Candida); dark discoloration of mucosal cytopathic effects
surface and nuclear
inclusions

Chemical or Accidental or intentional ingestion of corrosives,

Radiation alcohol, household cleaning products; Most commonly
Esophagitis due to reflux (going the wrong direction) of gastric acid
into the lower esophagus (GERD)

Eosinophilic Type 1 hypersensitivity allergy; associated atopy with Dietary restrictions

Esophagitis eosinophilia, rhinitis, asthma; dysphagia and food and topical or
impaction; differentiated from GERD by large number systemic cortico-
of eosinophils in the mucosa, concentric rings steroids

Varices Dilated, congested submucosal veins caused by portal

hypertension (complication of cirrhosis of the liver) →
severe hemorrhage

Gastropathy Diverse group of disorders including injury caused by

and Acute NSAID agents, alcohol, biliary reflux, portal
Gastritis (AG) hypertension, burns etc; gastropathy- no neutrophils
vs. AG ​has​ neutrophils, chronic gastritis has
lymphocytes; hyperemia
Helicobacter Preferentially involving the antrum and pylorus Spiral gram neg Humans are the
pylori (antrum>fundus); N/V, abdominal pain, hematemesis; rods primary
LOTS of plasma cells, lymphocytes and sometimes reservoir and
H. pylori aggregate in germinal centers; Blockage of acid Actively motile w/ colonization
Chronic production allows the bacterium to survive in the low flagella persists for life
Gastritis pH of the stomach; High production of urease unless the host
neutralizes gastric acids with ammonia; passes Urease, oxidase, is specifically
through the gastric mucus and adheres to the gastric catalase positive treated
epithelial cells using surface adhesion proteins (helps
to evade immune response as it blankets itself in host Hard to culture- 50% of adults
proteins); LPS outer membrane- lipid A (endotoxin Requires media are H. pylori
activity) and O (antigenically similar to human blood supplemented with carriers
group antigens that protect it from immune clearance) blood, serum, or
side chains; assoc w/ gastritis, gastric ulcers, charcoal in Cause of 95%
duodenal ulcers, gastric adenocarcinoma and gastric 30-37ºC of all duodenal
MALT lymphomas; acute sx:feeling of fullness, n/v, microaerophilic ulcers and 50%
and hypochlorhydria (decreased acid production in of all
stomach); chronic: can spread to entire stomach→ Upper endoscopy adenocarcinom
peptic ulcers→ replacement of the normal gastric +gastric or as in the
mucosa with fibrosis and proliferation of intestinal-type duodenal biopsy stomach
epithelium
Urea breath test
and stool antigen
test

Autoimmune Less common cause of chronic gastritis; production of Gastric pH

(chronic) antibodies to parietal cells and/or intrinsic factor → low decreased
gastritis acid (hypochlorhydria) and secondary stimulation of
(pernicious gastrin (secondary hypergastrinemia); depletion or Gastrin increased
anemia) lack of parietal cells, chronic gastritis with atrophy,
intestinal metaplasia and hyperplasia of Anti-parietal cell
neuroendocrine cells preferentially involving the antibodies
corpus (body) and fundus; complications include
pernicious anemia, associated neuropathy, intestinal Anemia and
metaplasia, carcinoid tumor; N/V, abdominal pain, decreased VitB12
hematemesis; loss of mucin in foveolar cells

Stress ulcers Occurs w/ critical illness or severe physiological

stress; Curling (severe burns and trauma)and Cushing
(intracranial disease) ulcers; usually multiple ulcers

Esophageal Most common congenital anomaly of the esophagus; Inability to pass a RF:advanced
Atresia assoc w/ tracheoesophageal fistula (TEF); upper nasogastric or maternal age,
esophagus ends in a blind pouch and the TEF is orogastric tube in obesity, low
connected to the distal esophagus (Type C- most the newborn SES, and
common type); idiopathic; frothing and bubbling at the suggests EA tobacco
mouth and nose after birth, episodes of coughing, smoking
cyanosis, and respiratory distress; feeding
exacerbates these symptoms → regurgitation, and
aspiration
Omphalocele Failure of lateral fold closure → herniation/protrusion
of the abd contents into the base of the umbilical cord;
insertion of the distal umbilical cord into the sac itself
distinguishes this condition from other
abd wall defects; asoc malformations, chromosomal
abnormalities and Beckwith-Wiedemann
syndrome (omphalocele, macrosomia, and
hypoglycemia)

Gastroschisis Failure of lateral fold closure→ herniation/protrusion of Higher assoc w/

abd contents through the lateral abdominal folds; abd prematurity than
content is not covered by peritoneum or overlying skin; omphalocele
assoc w/ intestinal atresia, malrotation and
cryptorchidism

Umbilical Incomplete closure or weakness of the RF: low birth wt

Hernia muscular umbilical ring; protrudes during
crying, coughing or straining; can be
reduced easily; most spontaneously
disappear

Actinomyces Grows slowly producing chronic, developing Dx: Filamentous gram RF (lumpy jaw)-
infections; colonize the upper respiratory, positive rod dental work, jaw
GI, and female genital tracts; low virulence trauma, or poor
potential and cause disease only when the Not acid fast and non oral hygiene
normal mucosal barriers are disrupted by spore forming
trauma, surgery, or infection.
● Actinomycosis: ​Characterized by Grows slowly in culture-
development of chronic Yellow/orange sulfur
granulomatous lesions → granules (looks like
suppurative and form abscesses sand)seen in abscesses
connected by sinus tracts. and sinus tracts
● Cervicofacial actinomycosis a.k.a.
“Lumpy jaw”: ​Most common; non- Endogenous - not
tender lump on the jaw → abscess infectious
and draining sinus tracts form along
jaw and neck. Obligate anaerobe
● Pelvic actinomycosis:​ assoc w/
placement of intrauterine devices; Tx: penicillin, tetracyclines,
relatively benign form of vaginitis or ceftriaxone (prolonged
extensive tissue damage assoc w/ treatment)
tubal- ovarian abscesses or ureteral
obstruction and extensive tissue Drainage of abscess
damage and/or surgical
debridement (generally
unnecessary)
Bacteroides Cell wall contains LPS but little to no Gram neg pleomorphic rod Predominant
Fragilis endotoxin- capsule is antiphagocytic and is anaerobe bacteria on most
the major virulence factor mucosal surfaces
Stimulated by bile, able to
*Intra-abdominal infections: ​usually grow on bile esculin agar
recovered after spillage of intestinal and blood agar
contents→ abscess formation; usually found
alongside other bowel organisms in TX: Gentamicin
abscesses (i.e. E. coli, Enterococcus) (aminoglycosides),
penicillin and
*GYN infections: ​female genital tract cephalosporin resistant;
infections; assoc w/ abscess formation Metronidazole,
carbapenems, and
β-lactam-β-lactamase
inhibitor combinations +/-
surgical
debridement(severe)

Lactase Lactose passes to colon and is digested by 50% of world pop

Enzyme bacteria; GI tract distress- cramping, lactose intolerant
deficiency bloating from CO2 and methane production;
acquired deficiency

Isomaltase- Same sx as lactose intolerance Heterozygous for

sucrase deficiency
deficiency

Celiac Gluten sensitivity enteropathy; food antigen Serology or HLA typing Genetic- HLA
induced hypersensitivity (type 4)- haplotype
lymphocytic infiltration; villous atrophy Endoscopy- atrophic w/ (HLA-DQ2.5 or
(damaged/ killed by CD8+), malabsorption scalloped folds, pink HLA-DQ8- lack
(wt loss, steatorrhea, diarrhea), dermatitis appearing aspartate acid),
herpetiformis- antibodies bind to dermal environmental
papilla→ influx of neutrophils→ rash; incre Dietary changes- avoid (previous infection-
risk of T cell lymphoma and small bowel gluten ETEC) or immune
adenocarcinoma; crypt hyperplasia (incre triggers
cell division); Marsh classification; Tfr binds
to IgA instead of iron; sx in kiddos: FTT, RF: IgA deficiency,
chronic diarrhea, vomiting, adb distention, Trisomy 21, Turner
muscle wasting, anorexia, irritability, iron syn, Williams syn,
deficiency anemia, osteoporosis, elevated DM, osteoporosis,
AST/ALT markers thyroid disorder
Irritable Bowel Functional GI disease; abnormal gut-brain Dietary changes- avoiding RF: stress and
Syndrome interactions→ abnormal motility of s. carbs adding soluble fibers gastro- enteritis
a.k.a. ​IBS intestine and colon; recurrent abd pain (previous infection-
(improves after defecation), constipation, Tx targets sx- norovirus or
(functional) diarrhea;​ not​ assoc w/ antidiarrheals or laxatives rotavirus)
inflammation or damage; unknown etiology;
increased nerve sensation (visceral
hypersensitivity) in the G- tract → pain after
eating; no pathological abnormality

Acute Result of ​acute inflammation and Characteristic findings on 3rd most common
Pancreatitis destructive autodigestion of the pancreas CT, MRI or ultrasound indication for
and peripancreatic tissues; aberrant hospital admission
activation of trypsinogen and other enzymes Peritoneal lavage among GI diseases
w/in pancreatic acini → autodigestion and assoc w/ significant
profound systemic inflammatory response; Potentially reversible morbidity and
mild, self-limited illness for 2–3 days w/ no mortality
significant sequelae; may develop severe
acute pancreatitis (defined by the presence RF: biliary tract
of organ system failure (pulmonary, disease and
cardiovascular, and/or renal systems); alcohol most
recurrence→ permanent damage → chronic common
pancreatitis or pancreatic insufficiency; abd
pain (intense, deep, searing pain that
radiates to the back), elevation of serum
amylase or lipase (>3 times the upper limit
of normal), elevated serum lipase, N/V,
fever; complications include shock,
disseminated intravascular coagulation
(DIC), RF/ ARDS, PE, pancreatic
pseudocysts/ abscess/ ascites/ fistulas,
walled-off necrosis;interstitial edematous
pancreatitis (enlargement of the pancreatic
parenchyma w/ assoc peripancreatic fluid
but with uniform enhancement of the
pancreatic parenchyma)​ ​and necrotizing
pancreatitis (fat necrosis- yellow/white)
Chronic Relapsing disorder → severe abd pain, Elevated serum amylase RF: recurrent
Pancreatitis exocrine and endocrine pancreatic and lipase levels (may be attacks of acute
insufficiency, severe duct abnormalities, and normal) pancreatitis,
pancreatic calcifications; chronic alcoholism,
inflammation of the parenchyma → Pancreatic parenchymal cigarette smoking,
progressive destruction of the acini (acinar and main duct chronic obstruction
loss but preservation of lobules at low mag), calcifications of pancreatic duct,
variable stenosis and dilation of the (pseudocysts) seen on CT hyper-
ductules, and fibrosis of the gland → or plain-film x-rays parathyroidis
impairment of the gland’s exocrine function (hyper- calcemia),
and loss of endocrine function in severe Tx: mainly symptomatic genetic (CFTR)
cases as well; maldigestion, profound and directed toward
steatorrhea of pancreatic insufficiency; N/V, relieving pain and treating
wt loss, malabsorption, hyperglycemia (DM) exocrine and endocrine
and jaundice; complications include: solitary insufficiency
pseudocyst formation (localized collections
of necrotic and hemorrhagic material rich in Irreversible and persistent
pancreatic enzymes but lack epithelial
lining- fibrous wall), mechanical obstruction
of the common bile duct/ duodenum,
pancreatic fistulas w/ pancreatic ascites,
PE, or sometimes pericardial effusion;
splenic vein thrombosis, development of
gastric varices; and formation of a
pseudoaneurysm, w/ hemorrhage or pain →
expansion and pressure on adjacent
structures

Pancreatic Syndrome of maldigestion resulting from Exocrine pancreatic RF: CF in kiddos

insufficiency disorders interfering with effective function tests (85%), chronic
pancreatic enzyme activity → steatorrhea pancreatitis in
(malodorous), maldigestion of carbs and Pancreatic enzyme adults, ​pancreatic
proteins (nitrogen loss) → wt loss, replacement therapy resection or
edema/ascites, weakness, hypoproteinemia carcinoma of the
and malabsorption of vit B12, fat and Elastase-1 activity in stool pancreas, bone
protein, diarrhea, hypocalcemia, sample marrow transplant,
nephrolithiasis; impaired digestion and graft vs host
absorption of fat, FTT, deficiency of fat disease, severe
soluble vitamins A, D, E and K acute pancreatitis
(pancreatic
necrosis)
Ischemic Acute causes- local vascular obstruction Endoscopy→ biopsy
Bowel and transmural infarction(severe
Disease atherosclerosis, AAA, hypercoagulable
states, oral contraceptives and emboli-
vegetation oh heart valve) → chronic
progression of hypoperfusion (superficial
mucosal ischemia/infarction) from shock,
CHF, dehydration, vasoconstrictive drugs
and systemic vasculitides; most vulnerable
in watershed zones (intestinal segments
located near the end of their arterial supply,
i.e. splenic flexure, sigmoid colon, proximal
rectum, etc), superficial mucosa (bases of
crypts) more vulnerable to ischemia; grossly
bowel will look dark, dusky, fibrinous
adhesions, ​sharply demarcated
hemorrhagic/ ulcerated mucosa​,
edematous or necrotic wall; acute
microscopic changes- necrosis of the
superficial mucosa w/ neutrophils and acute
hemorrhage → transmural coagulative
necrosis; chronic- atrophy of crypts, lamina
propria fibrosis and hemosiderin (chronic
hemorrhage); pseudomembrane formation
in acute or chronic ischemia
(indistinguishable from C. diff assoc colitis)

Hirschsprung Congential aganglionic megacolon; failure Rectal suction biopsy Usually dx in

Disease of neuroblast migration to distal colon → newborns
absence of ganglion cells in affected
segment (in submucosal and myenteric RF: males, genetic,
plexus); obstruction, bilious emesis, abd Downs syndrome,
distention, failure to pass stool, chronic trisomy 21, Joubert
constipation, enterocolitis, tight anal syn, SLO syn, SD
sphincter, “squirt or blast sign” on DRE; syn, cartilage hair
sepsis (fever, V/N/D, abd pain- distention) hypoplasia, neuro-
→ toxic megacolon; hypertrophic nerve fibromatosis,
fibers; rectum always affected; aganglionic neuroblastoma,
segment usually appears contracted while congenital
the normal colon undergoes progressive hypoventilation,
dilation and becomes massively Urogenital or CV
distended→ mucosal inflammation, abnormalities
ulceration and rupture; assoc w/
microcephaly, mental developmental Most common
disorders, abnormal facies, autism, cleft cause of lower GI
palate, hydrocephalus and micrognathia obstruction in
neonates
Factitious Chronic watery diarrhea; cramping abd Dx of exclusion Self-harm practice
Colitis a.k.a. pain, hypokalemia, metabolic alkalosis;
Laxative melanosis coli- assoc w/ anthraquinone Laxative screening on stool
abuse containing laxatives: drk brown discoloration specimen
of colon w/ lymph follicles shining thru the
pale patches, numerous pigment- contains
(lipofuscin) macrophages in the lamina
propria; loses normal peristaltic ability

Intestinal Pancreatic insufficiency; increased viscosity Oral pancreatic enzyme RF: CF

Obstruction of meconium → intestinal obstruction supplements

Diverticular Inflammation of the diverticulum; when

Disease a.k.a. diverticulosis becomes sx and pathologic;
diverticulitis abnormal colonic motility, increased
intraluminal pressure and narrowing;
muscularis propria hypertrophy; changes in
collagen in the bowel wall; usually seen in
sigmoid colon but can occur anywhere in
the colon; shallow depressions alone the
teniae coli; flask-shaped, thin-walled
projections of mucosa thru the wall on cut
surface
● Symptomatic uncomplicated
diverticular disease:​ persistent
LLQ abd pain in the absence of
imaging or endoscopic evidence of
colitis or diverticulitis
● Diverticulitis: ​acute or chronic;
uncomplicated or complicated;
abscess, fistula, bowel obstruction,
free perforation into the peritoneal
cavity and peritonitis; mild
inflammation
● Segmental colitis (w/o
diverticulitis): ​endoscopic or
imaging evidence of inflammation of
mucosa in segment affected by
diverticulosis btw diverticula; chronic
diarrhea, cramping LLQ pain,
intermittent, painless hematochezia;
can mimic ulcerative colitis
Pseudo- Part of normal GI flora; antimicrobial therapy Gram pos rod, anaerobic Fecal- oral route
membranous alters normal gut biota → allows for over transmission
Colitis a.k.a. colonization of ​C.difficile; ​inflammation and Spore producing (nosocomial)
C.diff​ assoc diarrhea mediated by endotoxins (toxins A
colitis and B); diffuse coat of white-grey-tan PCR or ELISA of stool RF: antibiotic use,
pseudomembrane layer on colon (gross hospitalization, or
exam); neutrophils erupting from crypts Enzyme immunoassay- advanced age
(volcanic mushroom cap); sudden onset of toxins A and B and
watery malodorous (barnyard) diarrhea glutamate dehydrogenase
(inflammatory type), abd pain and cramping, (nontoxigenic)
low grade fever, nausea, anorexia,
leukocytosis, abd distention, hypovolemia, Endoscopy-
lactic acidosis, hypoalbuminemia, elevated pseudomembranes
creatinine; can progress → sepsis, bowel
perforation w/ peritonitis, toxic megacolon; Very difficult to kill
can have recurrence after 30 days of
treatment; after having one recurrence at a
higher risk of further recurrences

Whipple Rare, chronic bacterial infection (organisms Biopsy Seen in rural

Disease live in macrophages)→ malabsorption in the PAS stain locales
s. intestine; involves joints, heart, GI tract
and CNS

Infectious GI upset caused by various “bugs”: “Cruise ship

Enterocolitis outbreaks”- viral
Bacteria: E.coli, Cholera, Campylobacter enterocolitis
spps, Shigellosis, Typhoid, Yersinia spps

Viruses: Rotavirus and Norovirus

Parasites: Ameba, Giardia,

Cryptosporidium, Ascaris, Strongyloides,
Enterobius, Schistosomes

Intus- Mechanical intestinal obstruction; portion of Can sometimes resolve Not a congenital
susception intestine telescopes into the immediately spontaneously but if left anomaly
distal bowel due to dysregulated peristalsis untreated → intestinal
or intestinal contents pushing a protruding infarct and/or perforation 80% occur before
mass into the bowel wall; commonly seen at age 2
the ileocecal junction; most cases idiopathic U/S
or assoc w/ Meckel diverticulum; sudden
onset of severe paroxysmal colicky pain at Surgical reduction
frequent intervals w/ straining efforts w/ legs
and knees flexed, loud cries→ progressively
weaker and lethargic; classic triad of pain +
palpable sausage-shaped abd mass,
bloody/ currant jelly stool
Volvulus Mechanical intestinal obstruction; segment Upper GI series Midgut volvulus
of intestine twists on its mesenteric pedicle more common in
around the SMA → vascular compromise of infants and kiddos
the bowel; vascular supply is compressed
and obstructed → obstruction

Intestinal Atresias ● Duodenal atresia:​ results from failed Noted very early
recanalization of intestinal lumen; assoc w/ in life (day 1)
prematurity, concomitant congenital
anomalies (CHD, malrotation (incomplete Abd radiograph
rotation of intestine→ improper positioning of
bowel around SMA w/ fibrous bands- Ladd NG or oral gastric
bands), annular pancreas, renal anomalies decompression +
and EA/TEF), chromosomal abnormalities IV fluid
(trisomy 21), bilious vomiting w/o abd replacement (DA)
distention, polyhydramnios, double bubble
sign (gas in stomach and proximal Duodenostomy
duodenum) (DA)
● Jejunal and ileal atresia: ​attributed to
intrauterine vascular accidents → segmental
infarction and resorption of the fetal intestine
→ ischemic necrosis and bowel discontinuity;
abd distention after feedings; multiple air-fluid
levels proximal to the obstruction in the
upright or lateral decubitus positions

Meckel Caused by incomplete obliteration of the Meckel scan or Most common

Diverticulum omphalomesenteric duct during the 7th wk of Technetium-99m congenital
gestation; Rule of 2s: found in 2% of pop, located 2 ft pertechnetate anomaly of the
proximal to the ileocecal valve, ~2in in length, can scan GI tract- 50% of
contain 2 types of ectopic tissue (pancreatic or all lower GI
gastric), presents before age 2 and are found 2x bleeds in kiddos
more commonly in females; majority are lined by younger than 2
ectopic mucosa → can be acid secreting→ yrs
intermittent painless rectal bleeding​ by ulceration
of adjacent ileal mucosa; hematochezia/ melena,
intussusception, volvulus, obstruction near terminal
ileum

Pyruvate Seizures, hypotonia, psychomotor slowing, poor Cultured skin Early mortality
Carboxylase head control, lactic acidosis, elevated plasma fibroblasts and if survive
Deficiency pyruvate level, high plasma Ala conc; accumulation have severe
of fibroblasts, NRG deficiency and hypoglycemia; Addition of other developmental
pyruvate is forced to be converted to lactate intermediates delays
(Gln and Asn)-
expensive, and
cannot be used
long term
Glycogen Storage *Type 1 a.k.a. Von Gierke: ​most serious; 1a- G-6
Diseases phosphatase deficiency (most frequently seen); 1b-
translocase deficiency; affects liver and kidney,
hepatomegaly, renomegaly, fatty liver, renal disease,
severe fasting hypoglycemia, lactic acidosis (G-6p
accumulation stops gluconeogenesis), hyperuricemia
(more prunes formed and degraded → gout),
hyperlipidemia (incre lipogenesis and lipid
mobilization), abd distention, chubby cheeks, thin
extremities, seizures, hyperuricemia and
hyperlipidemia; seen at 3-4 month age
*Type 2 a.k.a. Pompe disease: ​lysosomal (recycling
center) storage disease and glucosidase deficiency;
affects liver heart (cardiomegaly → early HF),
muscle; accumulation of waste kills cells
*Type 3 a.k.a. Cori disease: ​debrancher deficiency;
affects liver, heart and muscle; mild fasting
hypoglycemia, can only use glucose from peripheral
branches
*Type 5 a.k.a. McArdle syndrome: ​skeletal muscle
phosphorylase deficiency: CK3, LDH5, aldolase and
myoglobin; cannot utilize glucose as efficiently;
autosomal recessive inheritance; sx in early 20’s-
exercised induced muscle cramps, exercise
intolerance, burgundy colored urine
*Type 6 a.k.a. Hers disease: ​liver phosphorylase
deficiency; mild fasting hypoglycemia; cannot utilize
glucose as efficiently
*Type 7 a.k.a. Phosphofructokinase deficiency: ​sx
similar to type 5, early onset fatigue and pain with
exercise, presents in childhood; hemolysis; increased
uric acid levels; exercise intolerance is worse after
carbs

Homocystinuria Acquired: excessive methionine intake (egg whites, Dietary

fish, broccoli, potatoes, spinach, etc) w/ inadequate restrictions
intake of folic acid (vit B9) and vit B12 (cobalamin,
megaloblastic anemia and neurological problems) → Supplementation
incre homocysteine levels (AA in blood) → higher of vit B6, B12 and
risk of ACS, stroke, atherosclerosis (damage intima folate
of arteries and promote blood clots) and PVD; or
Familial: defect in cystathionine beta-synthase →
incre homocysteine and methionine; dislocation of
the lens and eye, intellectual disabilities, skeletal and
neurological disabilities, dysmorphic features, Marfan
habitus
Hartnup’s disease Defect in intestinal absorption and renal reabsorption
of neutral AA (particularly W, precursor for serotonin,
melatonin, and niacin) from the kidneys →
deficiencies in essential AAs

Phenylketonuria Deficiency in liver enzyme- phenylalanine Can detect in Autosomal

(PKU) hydroxylase (PAH) which is necessary to metabolize urine recessive
phenylalanine to tyrosine; when deficient disorder
phenylalanine accumulates and is converted into Controlled by diet Maternal PKU-
phenylpyruvate (phenylketone); if left untreated → (low if elevated F in
problems w/ brain development → progressive phenylalanine, blood →
intellectual disabilities, brain damage and seizures; high tyrosine, low congenital
mousy odor and progressive microcephaly protein) and meds anomalies

Pellagra “rough Vitamin deficiency caused by lack of niacin (vit B3)

skin” which is syn from W; can be caused by a decre
intake of niacin or W; 3 D’s: diarrhea, dermatitis and
dementia

Maple Syrup Defective alpha-keto acid dehydrogenase → leucine, NH3 normal or Autosomal
Urine Disorder isoleucine and valine accumulate→ sweet-smelling elevated; recessive
a.k.a. branched urine(due to isoleucine); seem healthy at birth but if Elevated inheritance
-chain untreated → severe neurologic damage and death; branched chain
ketoaciduria sx: intellectual disabilities and poor myelination of AAs- leucine,
a.k.a. Organic nerves; deteriorates after first couple wks of life, isoleucine and
Aciduria elevated glutamate and glutamine in the brain→ valine;
lethargy and damage to neurons Specialized diet

Organic Aciduria- Deficiency of enzyme glutaryl-CoA dehydrogenase Elevation of Autosomal

Glutaric Acidemia → inability to metabolize lysine, hydroxylysine and W glutaric acid, recessive
→ accumulation of organic acids; presents after 1 yr glutaryl- CoA, inheritance; RF:
w/ incurrent viral illness (normal development until 3-hydroxyglutaric PA Amish
then), mega encephalopathy (decre brain tissue and and glutaconic
incre fluid); profuse sweating, unexplained fevers, acid in urine; MRI-
irritability subdural
hematomas; Low
protein diet

Albinism Defect in conversion of tyrosine to melanin due to

deficiency in tyrosine aminotransferase

Cystinuria Most common genetic error of AA transport; Cys is

oxidized to cystine→ inability to reabsorb cystine in
the proximal tubules → formation of kidney stones
Urea Cycle Results in an inability for nitrogenous wastes Strict diet
deficiencies (ammonia) to be metabolized via the urea cycle →
accumulation of ammonia (v toxic)→ lethargy, brain
damage, coma, death; complete block of urea cycle
is fatal- there is no alternative pathway; alkalosis; can
affect liver function
*Hereditary deficiency of carbamoyl phosphate
synthetase 1 (CPS1)
*Ornithine transcarbamylase (OTC) deficiency:
hyperammonemia → progressive cognitive delays,
lethargy, liver disease; located on the X
chromosome; low citrulline and arginine levels
*Argininosuccinate synthetase (ASS) deficiency
a.k.a. Citrullinemia: ​autosomal recessive
inheritance; elevated ammonia and citrulline;
elevated orotic acid in urine
*Argininosuccinate lyase (ASL) deficiency:
autosomal recessive; elevated ammonia and arginine
deficient
*Arginase (ARG1) deficiency: ​autosomal recessive;
presents after newborn period; hyperammonemia,
elevated arginine; can present w/ incurrent viral
illness

Tyrosinemia Elevated tyrosine→ RTA and liver failure; elevation Dietary Autosomal
of tyrosine and methionine; FTT, vomiting, urine restrictions recessive
smells like rotten cabbage inheritance

Galactosemia Absence of GALT → accumulation of galactitol which Reducing

is toxic to the liver; jaundice, hepatomegaly, vomiting substances
when fed, intolerance, ​E. coli s​ epsis, cataracts, (sugars) in urine
progressive hepatic toxicity, death from sepsis or
bleeding Lactose free diet

Testicular Enlargement of the pampiniform plexus of veins

Varicocele which drain the testes; looks “like a bag of worms”;
caused by incompetent venous valves or
compression by SMA/ obstruction of the left testicular
or left renal vein; leftsided most common

Median Arcuate Characterized by abd pain caused by compression of Surgical

Ligament the celiac artery and possibly the celiac ganglion by decompression to
Syndrome a.k.a. the median arcuate ligament divide the
Celiac Artery ligament
Compression
Syndrome