GI and Nutrition 10% Flashcards
(190 cards)
1
Q
Mechanical or functional abnormality of the Lower Esophageal Sphincter (LES)
A
Reflux esophagitis
2
Q
Medication induced esophagitis etiology
A
NSAIDS or bisphosphonates (drugs that prevent the loss of bone density, used to treat osteoporosis)
3
Q
Asthma symptoms and GERD not responsive to antacids.
A
Eosinophilic esophagitis
4
Q
Eosinophilic esophagitis findings
A
Allergic, eosinophilic infiltration of the esophagus; barium swallow will show multiple corrugated rings.
5
Q
Esophagitis with linear yellow-white plaques with odynophagia (pain on swallowing).
A
Fungal: Infectious Candida
6
Q
Fungal esophagitis treatment
A
Fluconazole 100 mg PO daily
7
Q
Esophagitis with shallow ulcers noted on EGD; treatment
A
HSV; acyclovir
8
Q
Esophagitis with deep ulcers on EGD; treatment
A
CMV; ganciclovir
9
Q
Additional infectious esophagitis causes
A
EBV, Mycobacterium tuberculosis, and Mycobacterium avium intracellulare
10
Q
Failure of LES relaxation and increased LES tone, decreased peristalsis, slowly progressive dysphagia to liquids and solids, episodic regurgitation
A
Achalasia
11
Q
Achalasia test/findings
A
Barium swallow: “parrot-beak” - dilated esophagus tapered to distal obstruction. Definitive diagnosis: esophageal manometry
12
Q
Corkscrew appearance on barium swallow
A
Diffuse esophageal spasm
13
Q
Dysphagia to liquids and solids caused by injury at brainstem or cranial nerves
A
Neurogenic dysphagia
14
Q
Outpouching of posterior hypopharynx - regurgitation of undigested food and liquid into the pharynx several hours after eating, foul odor of breath. Diagnostic test.
A
Zenker diverticulum; barium swallow.
15
Q
Decreased esophageal sphincter tone and peristalsis, dysphagia to both solids and liquids
A
Scleroderma esophagus
16
Q
Dysphagia to solids but not liquids
A
Esophageal stenosis
17
Q
Esophageal mucosal tear caused by forceful vomiting - history of alcohol intake and an episode of vomiting with blood
A
Mallory Weiss tear
18
Q
Progressive dysphagia to solid foods along with weight loss, reflux and hematemesis
A
Esophageal neoplasms.
Squamous cell m/c worldwide and adenocarcinoma common in US
19
Q
Complication of Barrett’s esophagus, affects distal (lower) 1/3rd of esophagus
A
Adenocarcinoma.
Screen barrett’s patients every 3-5 years with endoscopy
[A/B = Adeno/Barrett’s]
20
Q
Associated with smoking and alcohol use. Affects proximal (upper) 2/3rds of esophagus
A
Squamous cell carcinoma
[S/S = Smoking/Squamous]
21
Q
Solid food dysphagia in a patient with a history of GERD
A
Esophageal strictures
22
Q
Thin membranes in the mid-upper esophagus. May be congenital or acquired.
A
Esophageal web.
Plummer-Vinson = esophageal webs + dysphagia + iron deficiency anemia
23
Q
A diaphragm-like mucosal ring that forms at the esophagogastric junction (the B ring). If the lumen of this ring becomes too small, symptoms occur
A
Schatzki ring
24
Q
Dilated veins in the distal esophagus or proximal stomach caused by elevated pressure in the portal venous system, typically from cirrhosis.
A
Esophageal varices
Budd-Chiari syndrome (from occlusion of hepatic veins)
25
Esophageal varices treatment
Endoscopic banding and IV octreotide (causes vasoconstriction in the blood vessels, and
reduces portal vessel pressures in bleeding varices). Prevent with nonselective beta blockers.
26
Retrosternal pain/burning shortly after eating worse with carbonation, greasy foods, spicy foods and laying down
GastroEsophageal Reflux Disease (GERD)
27
Gastroesophageal reflux disease (GERD) testing
Endoscopy with biopsy—the test of choice but not necessary for typical uncomplicated cases. Indicated if refractory to treatment or is accompanied by dysphagia, odynophagia, or GI bleeding.
Upper GI series (barium contrast study)—this is only helpful in identifying complications of GERD (strictures/ulcerations)
PH Probe is gold standard for diagnosis (but usually unnecessary)
28
Gastroesophageal reflux disease (GERD) treatment
H2 receptor blockers, proton pump inhibitors, diet modification (avoid fatty foods, coffee, alcohol, orange juice, chocolate; avoid large meals before bedtime); sleep with trunk of body elevated; stop smoking
Nissen fundoplication: antireflux surgery for severe or resistant cases
29
Gastroesophageal reflux disease (GERD) complications:
Strictures or Barrett’s esophagus
30
Dyspepsia and abdominal pain
Gastritis (inflammation along the stomach lining)
31
Gastritis testing
Gold standard diagnosis is endoscopy with 4 biopsies along stomach lining
32
Gastritis due to autoimmune or hypersensitivity reaction
Pernicious anemia: + schilling test + ↓ intrinsic factor and parietal cell antibodies
33
Most common cause of gastritis; tests; treatment
Infection - H. pylori
Studies: Urea breath test or fecal antigen
Treatment: PPI (Ie. Omeprazole) + clarithromycin + amoxicillin +/- metronidazole
34
Gastritis, other causes
NSAIDS: cause gastric injury by diminishing local prostaglandin production in the stomach and duodenum
Alcohol: a leading cause of gastritis
35
Weight loss, early satiety, abdominal pain/fullness and dyspepsia
Gastric neoplasms.
| Adenocarcinoma is most common
36
Metastatic signs of gastric neoplasms
Virchow's node (Supraclavicular)
| Sister Mary Joseph's node (Umbilical)
37
Peptic ulcer disease causes
H. pylori (most common), NSAID use, Zollinger-Ellison syndrome (refractory PUD) - gastrin secreting tumor
38
Peptic ulcer disease: location - symptoms
Duodenal ulcer - pain improves with food
| Gastric ulcer - pain worsens with food
39
Peptic ulcer disease testing
Endoscopy with biopsy is gold standard
40
Peptic ulcer disease treatment
H. pylori infection: Triple therapy PPI (ie. Omeprazole) + clarithromycin + amoxicillin +/- metronidazole.
NSAIDs use: discontinue
Zollinger-Ellison syndrome (gastrin-secreting tumor or hyperplasia of the islet cells in the pancreas causes overproduction of gastric acid, resulting in recurrent peptic ulcers: PPI and resect tumor
41
Projectile vomiting occurring shortly after feeding in an infant < 3 mo old with a palpable "olive-like" mass at the lateral edge of the right upper quadrant
Pyloric stenosis
42
Pyloric stenosis testing
On ultrasound you will see a “double-track”
| Barium studies will reveal a “string sign” or “shoulder sign”
43
The 5 F's: Female, Fat, Forty, Fertile, and Fair
Acute and chronic cholecystitis
44
Acute and chronic cholecystitis sign/symptoms
(+) Murphy's sign (RUQ pain with GB palpation on inspiration)
RUQ pain after high fat meal
45
Acute and chronic cholecystitis testing
Ultrasound is the preferred initial imaging.
HIDA (Hepatobiliary IminoDiacetic Acid) is the gold standard.
Porcelain gallbladder = chronic cholecystitis.
46
Acute and chronic cholecystitis treatment
Laparoscopic cholecystectomy
47
Complication of gallstones with symptoms secondary to an infected obstruction of the common bile duct; #1 cause
Cholangitis
| E.coli
48
Charcot’s triad of cholangitis
RUQ tenderness, jaundice, fever
49
Reynold’s pentad of cholangitis
Charcot’s triad + altered mental status and hypotension
50
Cholangitis diagnosis and treatment
ERCP (Endoscopic Retrograde Cholangio-Pancreatography)
51
Cholelithiasis
Precursor to cholecystitis
| Cholesterol stones account for > 85% of gallstones in the Western world
52
Cholelithiasis diagnosis
Abdominal ultrasound
53
Hepatitis A presentation
Acute - fatigue malaise, nausea, vomiting, anorexia, fever and right upper quadrant pain.
54
Hepatitis A transmission
Fecal-oral
55
Hepatitis A testing
Serum IgM anti-HAV
56
Hepatitis A vaccine
Killed (inactivated) - given in two doses; recommended for travelers.
57
Hepatitis B presentation
Acute and chronic
58
Hepatitis B transmission
Sexual or sanguineous
59
Hepatitis B serology
```
HBeAg – highly infectious
HBsAg – ongoing infection
Anti-HBc – had/have infection
IgM – acute
IgG – not acute
Anti-HBs – immune
```
60
Hepatitis B increases risk of _______________
Hepatocellular carcinoma
61
Hepatitis B vaccine
Given to all infants (birth, 1-2 mo, 6-18 mo)
62
Hepatitis C presentation
Chronic [C = chronic] ; asymptomatic
63
Hepatitis C transmission
IV drug use is most common. Also sexual or sanguineous.
64
Hepatitis C screening
Testing for anti-HCV antibodies
65
Hepatitis C diagnosis
HCV RNA quantitation
66
Hepatitis C increases risk of _________
Cirrhosis and hepatocellular carcinoma
67
Hepatitis C treatment
Antiretrovirals target complex of enzymes needed for HCV RNA synthesis
68
Hepatitis D only occurs when coinfected with ______ and increases risk of _______
Hepatitis B; hepatocellular carcinoma
69
Hepatitis E demographic
Pregnant woman, 3rd world countries.
| Hepatitis E + mother = high infant mortality
70
A late stage of hepatic fibrosis that has resulted in widespread distortion of normal hepatic architecture
Cirrhosis
71
Most common cause of cirrhosis
Chronic hepatitis (21%); Alcohol abuse is second (21%)
72
Cirrhosis labs
AST > ALT, ↑ risk for hepatocellular carcinoma: monitor AFP, ↑ ALP and GGT, low albumin, prolonged PT
73
Budd-Chiari syndrome
Hepatic vein thrombosis; triad of abdominal pain, ascites and hepatomegaly
74
Cirrhosis signs/symptoms
Ascites, pulmonary edema/effusion, esophageal varices, Terry’s nails (white nail beds)
Skin changes: spider angiomata, palmar erythema, jaundice, scleral icterus, ecchymoses, caput medusae, hyperpigmentation
75
Hepatic encephalopathy
Asterixis (flapping tremor), dysarthria, delirium, and coma
76
Liver neoplasms presentation
Abdominal pain, weight loss and right upper quadrant mass
77
Liver neoplasms etiology
Cirrhosis, Hepatitis B, Hepatitis C, Hepatitis D, Aflatoxin from aspergillus
78
Liver neoplasms testing
Tumor Marker: ↑ alpha-fetoprotein and abnormal liver imaging
79
Acute pancreatitis presentation
Epigastric abdominal pain with radiation to the back, pain relieved by leaning forward, elevated lipase
80
Acute pancreatitis etiology
Cholelithiasis or alcohol abuse
81
Acute pancreatitis diagnosis
Clinical: + elevated lipase and amylase.
| CT required to differentiate from necrotic pancreatitis
82
Acute pancreatitis signs
Grey Turner's sign (flank bruising), Cullen’s sign (bruising near umbilicus)
83
Acute pancreatitis treatment
IV fluids (best), analgesics, bowel rest
84
Pancreatic pseudocyst
Acute pancreatitis complication; a circumscribed collection of fluid rich in pancreatic enzymes, blood, and necrotic tissue
85
Acute pancreatitis Ranson’s criteria
```
The Ranson criteria form a clinical prediction rule for predicting the severity of acute pancreatitis. Three or more means more severe course:
Age > 55
Leukocyte: >16,000
Glucose: >200
LDH: >350
AST: >250
Calcium: <8.0
```
86
Chronic pancreatitis findings
Classic triad of pancreatic calcification (plain abdominal x-ray), steatorrhea (high fecal fat), and diabetes mellitus
87
Chronic pancreatitis etiology; treatment
Alcohol abuse; no alcohol, low-fat diet
88
Pancreatic neoplasm presentation
Painless jaundice is pathognomonic
89
Pancreatic neoplasm, most common
Ductal adenocarcinoma located at pancreatic head
90
Courvoisier’s sign
Jaundice and palpable non-tender gallbladder with pancreatic neoplasms
91
Trousseau sign
Migratory phlebitis; sign of malignancy with pancreatic neoplasms
92
Virchow's node (or signal node)
A lymph node in the left supraclavicular fossa (the area above the left clavicle) that is associated with pancreatic cancer
93
Pancreatic neoplasm diagnosis
Abdominal CT scan - 75% show tumor at the head of the pancreas, 25% at the tail
94
Pancreatic neoplasms treatment
Whipple procedure: remove antrum of stomach, part of duodenum, head of pancreas, gall bladder
95
Appendicitis presentation
Umbilical pain → then pain over McBurney’s point (RLQ).
| Nausea and vomiting, fever, chills, anorexia.
96
Appendicitis most common etiology
Acute inflammation of the appendix secondary to fecalith
97
McBurney's sign
Pain with palpation of RLQ - appendicitis
98
Rovsing's sign
RLQ pain with palpation of the LLQ - appendicitis
99
Obturator Sign
RLQ pain upon flexion and internal rotation of right lower extremity - appendicitis
100
Iliopsoas sign
RLQ pain with right hip extension - appendicitis
101
Appendicitis treatment
Appendectomy
102
Small bowel inflammation from allergy to gluten
Celiac disease
103
Celiac disease symptoms
Usually occur following ingestion of gluten-containing food (diarrhea, steatorrhea, flatulence, and weight loss). Also, has extraintestinal manifestations.
104
Celiac disease diagnosis; treatment
IgA anti-endomysial and anti-tissue transglutaminase antibodies.
Small bowel biopsy is gold standard for diagnosis.
Lifelong gluten free diet.
105
Constipation defined
Any two of the following features: straining, lumpy hard stools, a sensation of incomplete evacuation, use of digital maneuvers, a sensation of anorectal obstruction or blockage with 25 percent of bowel movements, and decrease in stool frequency (less than three bowel movements per week).
106
Constipation treatment
Increase fiber (20-25 grams per day), exercise and water in diet. Bulk-forming laxatives first line and osmotic laxatives can be used in patients not responding satisfactorily to bulking agents.
107
Patients who are older than 50 with new onset constipation should be evaluated for ______
Colon cancer
108
Out-pocketing of colon wall - most common location is the sigmoid colon
Diverticular disease
109
Diverticulosis presentation
Painless rectal bleeding
110
Diverticulitis presentation
Constipation, LLQ pain, fever, ↑ WBC, and generally don't bleed
111
Diverticular disease diagnosis
CT: Fat stranding and bowel wall thickening
112
Diverticular disease treatment
Metronidazole and Ciprofloxacin + bowel rest
113
Inflammatory bowel disease types
Ulcerative colitis, Crohn's disease
114
Ulcerative colitis natural history; findings
Isolated to the colon starts at rectum and moves proximally; continuous lesions; mucosal surface only
115
Ulcerative colitis testing
Barium enema: Lead pipe appearance (loss of haustral markings)
116
Ulcerative colitis treatment
Medications: Prednisone and mesalamine
| Colectomy is curative
117
Crohn's disease natural history; findings
From mouth to anus, transmural, skip lesions, and cobblestoning, fistulas common
118
Crohn's disease treatment
Flares: Prednisone +/- Mesalamine +/- Metronidazole or Ciprofloxacin.
Maintenance: Mesalamine
Surgery is not curative
119
Intussusception presentation
Sudden onset of significant, colicky abdominal pain that recurs every 15 to 20 min, often with vomiting. Affects children after viral infections or adults with cancer
120
Intussusception findings
Currant jelly stools; sausage-like mass in the abdomen
121
Intussusception diagnosis; treatment
Abdominal x-ray will reveal a “Crescent sign” or a “Bull's eye/target sign/coiled spring lesion” representing layers of the intestine within the abdomen.
Barium enema is both diagnostic and therapeutic in children.
122
Irritable bowel syndrome defined
According to the Rome IV criteria, IBS is defined as recurrent abdominal pain, on average, at least one day per week in the last three months, associated with two or more of the following criteria:
Related to defecation
Associated with a change in stool frequency
Associated with a change in stool form (appearance)
123
Ischemic bowel disease presentation
Sudden onset abdominal pain occurring 10-30 minutes after eating in a patient (usually elderly) with a risk of emboli formation (on the exam it is usually atrial fibrillation or CHF). It is associated with bleeding per rectum with or without diarrhea.
124
Ischemic bowel disease most common artery affected
Superior mesenteric artery
125
Ischemic bowel disease symptoms, acute; chronic
Acute: Abdominal pain out of proportion to findings
Chronic: pain 10-30 mins after eating, relieved by lying or squatting
126
Ischemic bowel disease diagnosis; treatment
Mesenteric angiography is the gold standard for diagnosis.
| Revascularization is the gold standard treatment
127
Lactose intolerance symptoms
Abdominal bloating and cramps, flatulence, diarrhea, nausea, borborygmi (rumbling stomach), or vomiting after consuming significant amounts of lactose
128
Lactose intolerance diagnosis; treatment
Lactose hydrogen breath test - definitive diagnosis.
| Treatment focuses on avoidance of dairy products, use of lactose-free products, or the use of lactase supplements.
129
Colon cancer presentation
Painless rectal bleeding and a change in bowel habits in a patient 50-80 years of age
130
Colon cancer screening
Colonoscopy begins at 50 then every 10 years until 85.
Fecal occult blood testing - annually after age 50.
Flexible sigmoidoscopy - every 5 years with FOB testing.
Sometimes CT colonography
131
Colon cancer testing
Barium enema - apple core lesion; adenoma most common type.
| Tumor Marker: CEA
132
Colon cancer characteristics
More likely to be malignant: sessile, > 1 cm, villous.
| Less likely to be malignant: Pedunculated, < 1 cm, tubular.
133
Colon cancer treatment
Resection and adjuvant chemotherapy
134
Small bowel obstruction presentation
Look for vomiting of partially digested food, severe abdominal distension and high pitched hyperactive bowel sounds progressing to silent bowel sounds.
135
Small bowel obstruction testing
KUB (kidney, ureter, bladder) shows dilated loops of bowel with air fluid levels with little or no gas in the colon
136
Small bowel obstruction etiology
Adhesion, hernia, fecal impact, volvulus, neoplasm
137
Small bowel obstruction treatment
Bowel rest, NG tube placement, surgery as directed by underlying cause
138
Colon polyps incidence
Colonic polyps are common; the incidence ranges from 7% to 50% (depending on the diagnostic method used)
139
Colon polyps and risk of malignant transformation
The main concern is malignant transformation, which occurs at different rates depending on the size and type of polyp
Distal colon are commonly benign if seen in the proximal colon they are more likely to be cancerous
The larger the colonic polyp, the greater the risk of malignant transformation
Villous adenomas have a 30-70% risk of malignant transformation
The greater the number of concomitant colonic polyps, the greater the risk of malignant transformation
140
Most common cause of painless rectal bleeding in the pediatric population
Colon polyps
141
Colon polyps follow-up
Once identified follow-up colonoscopy in 3-5 years
142
Familial adenomatous polyposis (FAP)
Characterized by the development of hundreds to thousands of colonic adenomatous polyps.
Colorectal polyps develop by mean age of 15 years and cancer at 40 years
143
Familial adenomatous polyposis (FAP) screening
First-degree relatives of patients with FAP should undergo genetic screening after age 10 years
The family should undergo yearly sigmoidoscopy beginning at 12 years of age
144
Complication of ulcerative colitis (most common), Crohn’s, Hirschsprung’s, pseudomembranous colitis, enteritis.
Toxic megacolon
145
Toxic megacolon findings
KUB shows dilated colon > 6 cm and colonic distention, fever, markedly distended abdomen, peritonitis, and shock.
146
Anal fissure presentation
Tearing rectal pain and bleeding which occurs with or shortly after defecation, bright red blood on toilet paper. Pain lasts for several hours and subsides until the next bowel movement
147
Rectal abscess and fistula etiology
Anorectal abscess is a result of infection, whereas fistula is a chronic complication of an abscess.
148
Rectal abscess findings
Painful swelling at the anus as well as painful defecation. Examination reveals localized tenderness, erythema, swelling, and fluctuance; fever is uncommon.
Deeper abscesses may produce buttock or coccyx pain and rectal fullness; fever is more likely.
149
Rectal fistula defined; symptoms
Anorectal fistula is an open tract between two epithelium-lined areas and is associated with deeper anorectal abscesses.
Fistulae will produce anal discharge and pain when the tract becomes occluded.
150
Fecal impaction presentation
Belly cramping and bloating, small amount of stool leakage and rectal discomfort in an elderly bed-bound patient.
151
Hemorrhoids, external, findings/treatment
Lower 1/3 of anus (below dentate line).
| Significant pain, and pruritus but no bleeding; treat with excision for thrombosed external hemorrhoids.
152
Hemorrhoids, internal, findings/treatment
Upper 1/3 of anus.
| No Pain, bright red blood per rectum, pruritus and rectal discomfort; treat with fiber, sitz baths, reduction if needed
153
Anorectal cancer presentation
Rectal bleeding + tenesmus (a feeling of incomplete emptying after a bowel movement)
154
Most common anorectal cancer
Adenocarcinoma
155
Anorectal cancer diagnosis; treatment
Typically colonoscopy is done: whenever rectal bleeding occurs, even in patients with obvious hemorrhoids or known diverticular disease, coexisting cancer must be ruled out.
Treated with wide local surgical excision, radiation with chemotherapy for large tumors with mets.
156
Indirect inguinal hernia
Most common. Passage of intestine through the internal inguinal ring down the inguinal canal, may pass into the scrotum. Often congenital and will present before age one.
157
Direct Inguinal Hernia
Passage of intestine through the external inguinal ring at Hesselbach triangle, rarely enters the scrotum.
158
Hiatal (diaphragmatic)
Involves protrusion of the stomach through the diaphragm via the esophageal hiatus. It can cause symptoms of GERD; acid reduction may suffice, although surgical repair can be used for more serious cases.
159
Ventral hernia
Often from previous abdominal surgery, obesity. Abdominal mass noted at site of previous incision.
160
Umbilical hernia
Very common, generally is congenital and appears at birth. Many umbilical hernias resolve on their own and rarely require intervention. Refer to surgery if an umbilical hernia persists >2 years of life.
161
Strangulated hernia
Hernia becomes strangulated when the blood supply of its contents is seriously impaired.
162
Obstructed hernia
An irreducible hernia containing intestine that is obstructed from without or within, but there is no interference to the blood supply to the bowel.
163
Incarcerated hernia
Hernia so occluded that it cannot be returned by manipulation, it may or may not become strangulated.
164
Traveler's diarrhea
E-coli.
165
Diarrhea after a picnic and egg salad
Staphylococcus aureus.
166
Diarrhea from shellfish
Vibrio cholerae.
167
Diarrhea from poultry or pork
Salmonella.
168
Diarrhea in a patient post antibiotics
C. Difficile.
169
Diarrhea in poorly canned home foods
C. perfringens.
170
Diarrhea breakout in daycare center
Rotavirus.
171
Diarrhea on a cruise ship
Norovirus.
172
Diarrhea after drinking (not so) fresh mountain stream water
Giardia lamblia; Campylobacter
173
Giardia lamblia presentation
Incubates for 1-3 weeks, causes foul smelling bulky stool and may wax and wane over weeks before resolving.
174
Campylobacter presentation
Incubation 2-5 days; rapid onset fever, cramping abdominal pain, bloody diarrhea
175
Kwashiorkor
Inadequate intake of protein and may lead to edema.
176
Marasmus
Inadequate intake of ALL energy forms (including protein).
177
Vitamin A deficiency
Elderly, alcoholics, liver disease - night blindness, dry skin.
178
Vitamin D deficiency
Elderly, low sunlight - rickets, osteomalacia.
179
Vitamin E deficiency
Neuropathy, ataxia
180
Vitamin K deficiency
Bleeding (makes clotting factors causes an increase in PT/INR).
181
Vitamin C deficiency
Alcoholics, elderly men - scurvy (poor wound healing, petechiae, bleeding gums).
182
Thiamine (B1) deficiency
Alcoholics, poverty.
Beriberi (tingling, poor coordination, edema, cardiac dysfunction).
Wernicke’s encephalopathy (ataxia, confusion).
Korsakoff syndrome (confabulation, retrograde and anterograde amnesia).
183
Niacin (B3) deficiency
Poverty, alcoholics.
| Pellagra (diarrhea, dermatitis, dementia).
184
Pantothenic Acid (B5) deficiency
Alcoholics - Numbness, tingling, headache, fatigue, insomnia.
185
Pyridoxine (B6) deficiency
Adolescents, alcoholics - Dermatitis, atrophic glossitis, sideroblastic anemia.
186
Folate deficiency
Pregnancy, alcoholics - Neural tube defects, megaloblastic anemia, glossitis, confusion.
187
Cobalamin (B12) deficiency
Elderly, vegans, atrophic gastritis - Megaloblastic anemia, subacute combined degeneration of spinal cord, seizures, dementia.
188
Phenylketonuria (PKU)
An autosomal recessive disorder and inborn error of metabolism involving absent or virtually absent phenylalanine hydroxylase (PAH) enzyme activity.
Phenylalanine and its metabolites accumulate in the central nervous system, causing mental retardation and movement disorders.
189
Phenylketonuria (PKU) presentation
Infants are normal at birth - after a few months, mental retardation is evident.
Presents as blond, blue-eyed, with fair skin, mental retardation, eczema, and a musty, mousy body odor of phenylacetic acid.
190
Phenylketonuria (PKU) screening
Neonates are screened for PKU 24 to 48 h after birth.
| Treatment: Low phenylalanine diet and tyrosine supplementation by age 3.
