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STEP 1 > Diseases > Flashcards

Diseases Flashcards

Quick recognition of diseases

1
Q

I-Cell Disease

A

lysosomal storage disease
defect: phosphotransferase (no M6P), end up secreted instead of lysosome
coarse facial features, clouded cornea, restrict joint movement, high plasma levels of lysosomal enzymes
fatal in childhood

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2
Q

Kartagener Syndrome

A

primary ciliary dyskinesia
defect: dynein arm, dysfunctional cilia and flagella
infertility (no sperm or fallopian tube movement), risk of ectopic pregnancy, recurrrent sinusitis/URI, bronchiectasis, Situs Invertus

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3
Q

Osteogenesis Imperfecta (OI)

A

AD brittle bones due to type I collagen defect
multiple fracture w/ little trauma, blue sclera, hearing loss, dental imperfections
commonly confused for child abuse

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4
Q

Ehlers-Danlos Syndrome

A

collagen synthesis defect (type III or V), >6 types, variable inheritance
hyperextensible skin, bleed/bruise easily, hypermobile joints
risk of joint dislocation, berry/aortic aneurysms, organ rupture

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5
Q

Menkes Disease

A

impair Cu absorption and transport, connective tissue defect

dec. Lysyl Oxidase (Cu cofactor) -> brittle/kinky hair, growth retardation, hypotonia

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6
Q

Prader-Willi Syndrome

A

Chr. 15 maternal imprinting (silent); paternal defect
25% maternal uniparental disomy
hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia

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7
Q

Angelman Syndrome

A

Chr. 15 paternal imprinting (silent); maternal defect
5% paternal uniparental disomy
inappropriate laughter, seizures, ataxia, server intellectual disability

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8
Q

Hypophosphatemic Rickets

A

Vit D resistant rickets

proximal tubule phos wasting

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9
Q

Mitochondrial Myopathies

A

Rare mitochondrial inheritance that must meet threshold
myopathy, lactic acidosis, CNS disease
due to failure of oxidative phosphorylation
“ragged red fibers” on muscle biopsy

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10
Q

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

A

AD adult onset bilateral massive cystic enlargements

85% due to mut. PKD1 (Chr. 16), remaining mut PKD2 (Chr. 4)

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11
Q

Familial Adenomatous Polyposis

A

AD colon covered in adenomatous polyps after puberty -> cancer unless entire colon resected
mut. APC (Chr. 5)

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12
Q

Hereditary Hemorrhagic Telangiectasia

A

(Osler-Weber-Rednu) AD blood vessel disorder

telangiectasia, recurrent epistaxis, skin discolorations, AVMs, GI bleed, hematuria

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13
Q

Hereditary Spherocytosis

A

AD due to mut. Spectrin or Ankyrin
Inc. MCHC on CBC
Tx: splenectomy

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14
Q

Marfan Syndrome

A

AD mut. Fibrillin-1
long extremities, pectus extravatum, hypermobile joints, long/tapered fingers/toes, cystic medial necrosis of aorta, dissecting aortic aneurysm, floppy mitral valve, subluxation of lens (up but temporary)

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15
Q

Tuberous Sclerosis

A

AD, incomplete penetrance, variable expression
nuerocutaneous disorder, multiple organs
hamartomas

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16
Q

von Hippel-Lindau Disease

A 
AD del. VHL (Chr. 3)
many tumors (benign and malignant
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17
Q

Duchenne/Becker Muscular Dystrophy

A

XLR mut. Dystrophin (DMD) -> accelerated muscle breakdown
DMD: longest gene in humans, prone to mut. function to anchor muscle fibers actin to transmembrane
Duchenne: serious frame shift mut. (onset <5 y/o)
Becker: milder point mut. (adolescent onset)
begin weak pelvic muscle and moves up
pseudohypertrophy of calves (fibrofatty replacement), Gower maneuver (upper extremity to stand), dilated cardiomyopathy

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18
Q

Myotonic Type 1

A

CTG expansion of DMPK

myotonia, muscle wasting frontal balding, cataracts, testicular atrophy, arrhythmia

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19
Q

Fragile X Syndrome

A

XLR; CGG expansion of FMR1 -> susceptible to hypermethylation
2nd MC genetic intellectual disability
post-pubertal marcoorchidism, long face, large jaw, large everted ears, autism, mitral valve prolapse

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20
Q

Downs Syndrome

A

Trisomy 21 (Drinking age 21)
intellectual disability, flat facies, prominent epicanthal folds, single palmar crease, duodenal atresia, Hirschsprung, ostium primum ASD, Bushfield spots (eye)
Risk: ALL, AML, ALZ (<35y/o)
Maternal Age risk factor
1st Trimester: inc. nuchal translucency, hypoplastic nasal bone, dec. PAPP-A, inc. free beta-hCG
2nd Trimester: dec. alpha-fetoprotein/estriol, inc. beta-hCG, inhibin A

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21
Q

Edwards Syndrome

A

Trisomy 18 (Election age 18)
severe intellectual disabiliy, rocker-bottom feet, micrognathia (small jaw), low-set ears, clenched hands, prominent occiput, congential heart disease
death by age 1
early dec. PAPP-A, free beta-hCG, alpha-fetoprotein, estriol, inhibin A (near normal)

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22
Q

Patau Syndrome

A

Trisomy 13 (Puberty age 13)
severe intellectual disability, rocker-bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease
death by age 1
1st Trimester: inc. nuchal translucency, dec. free beta-hCG/PAPP-A

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23
Q

Cri-du-Chat

A

microdel of short arm Chr. 5 (46XX/XY, 5p-)

microcephaly, intellectual disability, high-pitched cry/mewing, epicanthal folds, VSD

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24
Q

Williams Syndrome

A

microdel of long arm Chr. 7 (including elastin)
distinctive elfin facies, intellectual disability, hypercalcemia (inc. sensitive to Vit D), well-developed verbal skills, extreme friendliness w/ strangers, CV problems

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25
Q

22q11 del Syndromes

A

variable presentation -> DiGeorge, Velocardiofacial Syndrome
aberrant 3rd and 4th branchial pouches
cleft palate, abnormal facies, thymic aplasia, cardiac defect, hypocalcemia (due to parathyroid aplasia)

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26
Q

G6PD Deficiency

A

XLR, MC enzyme deficiency
Less NADPH, less RBC detox ability -> hemolytic anemia
triggers: fava beans, sulfonamides, primaquine, antituberculosis, infections
Inc. prevalence in blacks
heize bodies and bite cells

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27
Q

Fructose Intolerance

A

AR inherited Aldolase B deficiency, accumlate fructose-1-P, dec. in phosphate, inhibit glycogenolysis/gluconeogenesis
symptoms come with eating fruit, juice, or honey
urine dipstick for reducing sugars
hypoglycemia, jaundice, cirrhosis, vomiting
dec. intake of fructose and sucrose

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28
Q

Galactokinase Deficiency

A

AR inherited Galactokinase deficiency, accumulate galactitol, found in urine
infantile cataracts, failure to track objects, social smile

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29
Q

Classic Galactosemia

A

AR inherited absence of Galactose-1-Phosphate Uridyltransferase -> accumulation of toxic substances
failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability
limit galactose and lactose from diet

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30
Q

N-Acetylglutamate Deficiency

A

required cofactor for carbamoyl phosphate synthetase I -> hyperammonemia
present identical to carbamoyl phosphate synthase I deficiency, except inc. ornithine with normal urea cycle enzyme

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31
Q

OTC Deficiency

A

XLR, MC urea cycle defect
hyperammonemia in first few days of life
Inc. orotic acid blood/urine, dec. BUN, hyperammonemia
no megaloblastic anemia

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32
Q

Phenylketonuria (PKU)

A

AR dec. Phenylalanine Hydroxylase or BH4 (cofactor)
Tyr becomes an essential aa (to make dopamine, melanin, NE, Epi)
screen 2-3 days following birth for phenylketones in urine
intellectual disability, growth retardation, seizures, fair skin, eczema, musty body odor
Tx: dec. Phe and inc. Tyr in diet (avoid artificial sweetners)

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33
Q

Maternal PKU

A

Mom w/ PKU poorly controlled with diet

Infant: microcephaly, intellectual disability, growth retardation, congenital heart defects

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34
Q

Alkaptonuria

A

AR deficiency of Homogentisate Oxidase (Tyr -> fumarate)

dark connective tissue, brown sclera, urine black when exposed to air, debilitating arthralgia (otherwise benign)

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35
Q

Homocystinuria

A

3 Forms (all AR):
1. Cystathionine Synthase Deficiency (dec. Met, inc. Cys B12 and folate)
2. Dec affinitiy for B6 cofactor (massive supp B6 and folate)
3. Homocysteine Methyltransferase Deficiency (inc. Met)
homocystine in urine, intellectual disability, osteoporosis, tall stature, kyphosis, lens subluxation (down/in), thrombosis, atherosclerosis

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36
Q

Cystinuria

A

AR defect in renal PCT transport of Cys, Ornithine, Lys, Arg (COLA) -> hexagonal cystine Stones
Dx: urine cyanide-nitroprusside test
Tx: alkalinize urine (Kcitrate, acetazolamide), chelation to soluablize stones, hydration

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37
Q

Maple Syrup Urine Disease

A

AR block degradation of branched aa (Iso, Leu, Val) due to dec. alpha-Ketoacid Dehydrogenase
CNS defects, intellectual disability, death (despite weird name)
urine smells like maple syrup
Tx: restrict those aa intake, B1 supp

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38
Q

von Gierke Disease

A

AR deficiency Glucose-6-Phosphatase
severe fasting hypoglycemia, high glycogen in liver, inc lactate, hepatomegaly
Tx: frequent oral glucose/starch, avoid fructose/galactose

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39
Q

Pompe Disease

A

AR deficiency Lysosomal alpha-1,4-Glucosidase
cardiomyopathy + systemic -> early death
(Pompe trashes the Pump)

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40
Q

Cori Diease

A

AR deficiency Debranching alpha-1,6-glucosidase
mild hypoglycemia, glycogen accumulation due to functional gluconeogenesis
normal lactate levels

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41
Q

McArdle Disease

A

AR deficiency Myophosphorylase (skeletal muscle glycogen phosphorylase)
glycogen accumulate in muscle
painful cramps, myglobinuria with strenuous exercise
electrolyte disturbance and arrhythmia follows
(McArdle trashes Muscle)

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42
Q

Fabry Disease

A

XLR deficiency alpha-Galactosidase A
Ceramide Trihexoside accumulate
peripheral neuropathy, angiokeratomas, CV/renal disease

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43
Q

Gaucher Disease

A

AR (MC lysosomal storage disease) deficiency Glucocerebrosidase
Glucocerebroside accumulation
hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone cries, Gaucher Cells (tissue paper macrophages)
Tx: recomb enzyme

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44
Q

Niemann-Pick Disease

A

AR deficiency Sphingomyelinase
Sphingomyeline accumulation
progressive neurodegeneratoin, hepatosplenomegaly, cherry-red spots on macula, foam cells

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45
Q

Tay-Sachs Disease

A

AR deficiency of Hexosaminidase A
GM2 Ganglioside accumulation
progressive neurodegeneration, developmental delay, cherry-red spots on macula, lysosome onion skin
no hepatosplenomegaly

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46
Q

Krabbe Disease

A

AR deficiency Galactocerebrosidase
Galactocerebrosidase Psychosine accumulation
peripheral neuropathy, developmental delay, optic atrophy, globoid cells

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47
Q

Metachromatic Leukodystrophy

A

AR deficiency Arylsulfatase A
Cerebroside Sulfate accumulation
central and peripheral demyelination w/ ataxia, dementia

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48
Q

Hurler Syndrome

A

AR deficiency alpha-L-Iduronidase
Heparan Sulfate, Dermatan Sulfate accumulation
developmental delay, gargoylism,airway obstruction, corneal clouding, hepatosplenomegaly

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49
Q

Hunter Syndrome

A

XLR deficiency Iduronate Sulfatase
milder Hurler + aggressive behavior
no corneal clouding (hunters see clearly)

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50
Q

Carnitine Deficiency

A

inability to transport LCFA into mito -> toxic accumulation

weakness, hypotonia, hypoketoic hypoglycemia

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51
Q

Acyl-CoA Dehydrogenase Deficiency

A

inc. dicarboxylic acid, dec. glucose/ketones

remember, acetyl-CoA is a pos regulator of pyruvate carboxylase (gluconeogenesis)

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52
Q

Hyperchylomicronemia (type I)

A

AR deficiency of Lipoprotein Lipase or altered Apo-CII
High chylomicrons (milky blood), TG, cholesterol
pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas
NO inc. atherosclerosis risk

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53
Q

Familial Hypercholesterolemia (type IIa)

A

AD absent/defective LDL Receptor
hetero: ~300mg/dL LDL levels
homo: ~700mg/dL
accelerated atherosclerosis (MI <20 y/o), tendons (Achilles) xanthomas, corneal arcus

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54
Q

Hypertriglyceridemia (type IV)

A

AD hepatic overproduction of VLDL

pancreatitis

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55
Q

Weil Disease

A

Severe Leptospira interrogans (ice tong bacteria)
flu-like, jaundice, azotemia, photophobia w/ conjunctival suffusion, fever, hemorrhage, and anemia
common among surfers

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56
Q

Argyll Robertson Pupil

A

pupil constriction w/ accommodation but not reactive to light
“prostitute pupil” associated with tertiary syphilis

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57
Q

Jarisch-Herxheimer Reaction

A

flu-like syndrome after antibiotics are started due to killed bacteria releasing pyrogens

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58
Q

Lymphogranuloma Venereum

A

Chlamydia trachomatis (L1-L3)
infection of lymphatics
painless genital ulcers, painful lymphadenopathy (buboes)

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59
Q

X-Linked Agammaglobulinemia

A

defective BTK; no B cell maturation
recurrent bacterial, enteroviral infections
start after 6mo (dec mom protection)
normal CD19+ B cell count, dec. pro-B and Ig all classes
absent lymph nodes and tonsils

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60
Q

Selective IgA Deficiency

A

MC immunodeficiency, pt. largely unaware/asymptomatic
airway/GI infections, autoimmune, atopy
anaphylaxis to IgA in bood products
IgA <7mg/dL w/ normal other classes

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61
Q

Common Variable Immunodeficiency

A

cluster of disease defect in B cell differentiation
20-30s y/o acquired (major exception)
autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections
dec. plasma cells and Igs

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62
Q

Thymic Aplasia (DiGeorge)

A

22q11 del -> failure 3/4th pharyngeal pouches -> no thymus, no parathyroids
Tetany (hypocalcemia), recurrent viral/fungal infections (T cell deficiency), conotruncal abnormalities (tetra Fallot, truncus arteriosus)
dec. T cells, PTH, Ca2+, absent thymic shadow, 22q11del on FISH

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63
Q

IL-12 Receptor Deficiency

A

AR dec. Th1 response
disseminated TB and fungal, present after BCG admin
dec. IFN-gamma

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64
Q

Hyper-IgE (Job) Syndrome

A

AD STAT3 mut. -> deficiency Th17 cell and neutrophil

coarse facies, cold/noninflam staph infection, abscessing, retain primary teeth, inc. IgE/dec. IFN-gamma, eczema

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65
Q

Chronic Mucocutaneous Candidiasis

A

T Cell dysfunction
noninvasive Candida skin and mucous infection
absent in vitro T cell proliferation in response to Candida antigens

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66
Q

Severe Combined Immunodeficiency (SCID)

A

XLR: defect IL-2R gamma
AR: adenosine deaminase deficiency
failure to thrive, chronic diarrhea, recurrent infections with everything
dec. T cell receptor excision, absent thymic shadow/germinal centers, and T cells
Tx: bone marrow transplant (no issues or rejection)

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67
Q

Ataxia-Telangiectasia

A

ATM defect -> dsDNA break -> cell cycle arrest
cerebellar defect (ataxia), spider angiomas (telangiectasia), IgA def.
inc AFP, dec IgA, IgG, IgE
lymphopenia, cerebellar atrophy

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68
Q

Hyper-IgM Syndrome

A 
XLR MC due to defective CD40L -> defective class switching
severe pyrogenic, Pneumocystis, Cryptosporidium, CMV
high IgM, low other classes
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69
Q

Wiskott-Aldrich Syndrome

A

XLR mut in WAS gene -> T cell unable to reorganize actin cytoskeleton
thrombocytopenic purpura, eczema, recurrent infections, autoimmune, malignancies
dec. IgG/IgM, inc. IgE/A, fewer and smaller platelets

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70
Q

Leukocyte Adhesion Deficiency (type 1)

A 
AR defect LFA-1 (CD18) -> impair migration/chemotaxis
recurrent bacterial skin/mucosal infection, impair wound healing, delay separation of umbilical cord (>30days)
inc neutrophil (stuck in vessels), absence of neutrophils at infection site
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71
Q

Chediak-Higashi Syndrome

A 
AR defect LYST in lysosomal trafficking
microtubule dysfunction in phagosome-lysosome fusion
pyogenic infection (staph/strep), partial albanism, peripheral neuropathy, progressive neurodegeneration, inflitrative lymphohistiocytosis
giant granules in neutrophils, pancytopenia, mild coagulation defect
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72
Q

Chronic Granulomatous Disease

A

XLR defect NADPH oxidase -> dec. ROS and absent respiratory burst
susceptible to catalase + organisms
Pseudomonas, Listeria, Aspergillus, Candida, E. coli, S. aureus, Serrtia

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73
Q

Cardio Wide Splitting

A

exaggeration of normal splitting in inspiration

due to delay RV emptying (pulmonic stenosis, R bundle branch block)

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74
Q

Cardio Fixed Splitting

A

wide pulmonic delay regardless of inspiration

ASD -> L-to-R shunt -> inf flow through pulmonic valve

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75
Q

Paradoxical Splitting

A

aortic > pulmonic during expiration (complete reverse)

due to delay LV emptying (aortic stenosis, R bundle branch block)

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76
Q

Romano-Ward Syndrome

A

AD pure cardiac congenital long QT

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77
Q

Jervell and Lange-Nielsen Syndrome

A

AR congenital long QT + sensorineural deafness

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78
Q

Wolff-Parkinson-White Syndrome

A

MC type of ventricular pre-excitation
Bundle of Kent: fast accessory conduction pathway by-passing slow AV node
Delta Wave: partial early depolarization -> shortened PR interval
may cause reentry circuit -> supraventricular tachycardia

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79
Q

Torsades de Pointes

A

polymorphic ventricular tachycardia
shifting sinusoidal waveform -> VFib
predisposed with long QT (congenital or anything that dec K and Mg)
Tx: MgSulfate

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80
Q

Eisenmenger Syndrome

A

uncorrected L->R shunt (VSD, ASD, PDA) becomes pulmonary HTN w/ RV hypertrophy that develops into R->L shunt with late cyanosis, clubbing, and polycythemia

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81
Q

Monckeberg Arteriosclerosis

A

uncommon medial calcification of arteries, esp. ulnar and radial, no intima involvement
usually benign, pipestem arteries on x-ray

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82
Q

Coronary Steal Syndrome

A

MI complication
distal to stenosis, vessels are maximally dilated
when give vasodilator, normal vessels dilate shunting blood to well-perfused areas -> ischemia in post stenotic region

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83
Q

Prinzmetal Angina

A

angina at rest secondary to coronary vasospasm -> transient ST elevation
triggered by tobacco, cocaine, and triptans
Tx: CCB, nitrates, smoking cessation

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84
Q

Hypertrophic Cardiomyopathy

A

70% AD familial AD mut in beta myosin heavy chain
common cause of sudden death in young athletes
diastolic dysfunction, ventricular hypertophy w/ septal predominance
myofibrillary disarray and fibrosis with S4 and systolic murmur
Obstructive Subtype: septum too close to anterior mitral leaflet -> outflow obstruction -> dyspnea and syncope
Tx: stop athletics, BB, non-DHP CCB, ICD

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85
Q

Kussmaul Sign

A

paradoxical rise in JVP w/ inspiration

constrictive pericarditis, restrictive cardiomyopathies, right atrial or ventricular tumors

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86
Q

Pulsus Paradoxus

A

dec amplitude of systolic BP by >10mmHg during inspiration

cardiac tamponade, asthma, obstructive sleep apnea, pericarditis, croup

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87
Q

Pyogenic Granuloma

A

polypoid capillary hemangioma can ulcerate and bleed

associated w/ trauma and pregnancy

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88
Q

Cystic Hygroma

A

cavernous lymphangioma of the neck

associated w/ Turner Syndrome

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89
Q

Glomus Tumor

A

benign, painful, red-blue tumor under fingernails

from modified smooth muscle cell of glomus body

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90
Q

Bacillary Angiomatosis

A

benign capillary skin papules in AIDS
due to Bartonella henselae
commonly mistaken for Karposi sarcoma

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91
Q

Karposi Sarcoma

A

endothelial malignancy of skin, GI and respiratory tract

associated with HHV-8 and HIV

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92
Q

17alpha-Hydroxlyase Def.

A

inc. mineralcorticoid; dec. cortisol, sex hormones
HTN, hypokalemia, dec. DHT
XY: pseudohermaphroditism
XX: lack secondary sexual development

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93
Q

21-Hydroxylase Def.

A

MC
inc. sex hormones; dec. mineralcorticoid, cortisol
HypoTN, hyperkalemia, high renin, 17-hydroxyprogesterone
infancy (salt-wasting), childhood (percocious puberty)
XX: virilization

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94
Q

11beta-Hydroxylase Def.

A

inc. sex hormones; dec. cortisol, aldo but inc. 11-deoxycorticosterone (like also)
low renin HTN, no electrolyte abnormalities
XX: virilization

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95
Q

Waterhouse-Friderichsen Syndrome

A

acute primary adrenal insufficiency due to hemorrhage

associated with Neisseria meningitidis, septicemia, DIC, endotoxic shock

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96
Q

Congenital Hypothyroidism

A

Cretinism
fetal hypothyroidism due to maternal hypothyroidism
thyroid agenesis/dysgenesis, iodine deficiency, dyshormonogeneic goiter
pot-bellied, pale, puffy-faced, protruding umbilicus, protuberant tongue, poor brain development

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97
Q

Subacute Thyroiditis

A

deQuervain
self-limited hypothyroidism following flu like illness w/ initial hyperthyoidism (due to release of stored hormone)
granulomatous inflammation of the thyroid
inc. ESR, jaw pain, very tender thyroid

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98
Q

Riedel Thyroiditis

A

thyroid replaced by fibrous tissue, may extend to local structures, mimic anaplastic carcinoma, related to IgG4 systemic disease
fixed, hard, painless goiter

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99
Q

Wolf-Chaikoff Effect

A

excess I temporarily inhibiting thyroid peroxidase (organification)

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100
Q

Osteitis Fibrosa Cystica

A

cystic bone spaces filled w/ brown fibrous tissue
associated with hyperparathyroidism
stones, bones, groans, and psychiatric overtones

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101
Q

Albright Hereditary Osteodystrophy

A

pseudohypoparathyroidism - AD
unresponsiveness of kidney to PTH
hypocalcemia, shortened 4/5th digits, short stature

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102
Q

Sheehan Syndrome

A

ischemic infarct of pituitary following postpartum bleeding

present with failure to lactate

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103
Q

Carcinoid Syndrome

A

caused by carcinoid tumors (usually of metastatic gut) that secrete high levels of serotonin
need to spread outside gut, because otherwise 1st pass would remove
recurrent diarrhea, cutaneous flushing, asthmatic wheezing, R side valve disease, inc 5-hydroxyindoleacetic acid in urine, niacin deficiency (pellagra)
Tx: resection, octreotide

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104
Q

Zollinger-Ellison Syndrome

A

Gastrin secreting tumor of pancreas or duodenum
acid hypersecretion -> recurrent ulcers in distal duodenum and jejunum
ab pain, diarrhea
associated with MEN1

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105
Q

MEN 1

A

parathyroid, pituitary, pancreatic endocrine tumor

present kidney stones, stomach ulcers

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106
Q

MEN 2a

A

medullary thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia

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107
Q

MEN 2b

A

medullary thyroid carcinoma, pheochromocytoma, oral/intestinal ganlioneuromatosis (mucosal neuromas)
Marfan habitus

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108
Q

Gastroschisis

A

extrusion of abdominal contents through abdominal folds, not covered by peritoneum

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109
Q

Omphalocele

A

persistance of herniation of abdominal contents into umbilical cord, sealed

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110
Q

Annular Pancreas

A

ventral bud encircles 2nd part of duodenum causing narrowing

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111
Q

Pancreas Divisum

A

ventral and dorsal parts fail to fuse at 8 wks

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112
Q

Menetrier Disease

A

gastric hypertrophy w/ protein loss, parietal cell atrophy, inc. mucous cells
precancerous
hypertrophic rugae that look like brain gyri

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113
Q

Whipple Disease

A

Tropheryma whipplei infection
PAS + foamy macrophages in intestinal lamina propria/mesenteric nodes
Cardiac, Arthralgia, Neurological symptoms in older white men

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114
Q

Celiac Sprue

A

AI intolerance to gliadin, associated w/ HLA-DQ2, HLA-DQ8
anti-endomysial, anti-tissue transglutaminase, anti-gliadin
blunting of villi, lymphocyte in lamina propria, dec. absorption in distal duodenum/proximal jejunum
associated Dermatitis Herpetiformis
inc. risk T-cell lymphoma

115
Q

Diverticulitis

A

“left sided appendicitis”
inflam of diverticula -> LLQ pain, fever, leukocytosis
risk of perforation -> peritonitis, abscess formation, bowel stenosis
Tx: antibiotics

116
Q

Zenker Diverticulum

A

pharyngoesophageal false diverticulum
herniation of mucosa through Killian triangle b/w thyropharyngeal and cricopharyngeal of the inferior constrictor
dysphagia, obstruction, foul breath due to trapped food (halitosis)

117
Q

Meckel Diverticulum

A

persistent vitelline duct, true diverticulum
ectopic gastric or pancreatic tissue
MC GI congenital abnormality
melena, RLQ pain, intussusception, volvulus, or obstruction near terminal ileum

118
Q

Volvulus

A

twisting of bowel around mesentery -> obstruction and infarction
midgut common in children
sigmoid common in elderly

119
Q

Hirschsprung Disease

A

congenital megacolon due to lack of ganglion in enteric nervous plexus
failure of neural crest cell migration, mut. RET genes
bilious emesis, ab distention, failure to pass meconium w/in first 48 hrs
inc. risk with Down’s Syndrome

120
Q

Angiodysplasia

A

tortuous dilation of vessels -> hematochezia

MC in elderly

121
Q

Duodenal Atresia

A

early bilious vomiting w/ proximal stomach distention (double bubble on X-ray)
due to failure of small bowel recanalization
asso. w/ Down’s Syndrome

122
Q

Ileus

A

intestinal hypomotility w/o obstruction -> constipation, dec. flatus, distended/typmanic w/ dec. bowel sounds
asso. w/ ab surgeries, opiates, hypokalemia and sepsis

123
Q

Ischemic Colitis

A

reduction of intestinal blood flow esp. at splenic flexure

pain after eating -> weight loss

124
Q

Meconium Ileus

A

in CF

meconium plug obstruct intestine prevent stool passage at birth

125
Q

Necrotizing Enterocolitis

A

necrosis of intestinal mucosa w/ possible perforation

common in preemies

126
Q

Juvenile Polyposis Syndrome

A

multiple juveile polyps in children <5y/o
inc. risk of adenocarcinoma
single polyp is not malignant

127
Q

Peutz-Jeghers Syndrome

A

AD multiple nonmalignant hamartomas throughout the GI tract
hyperpigmented mouth, lips, hands, genitalia
inc. risk of CRC and other visceral malignancies

128
Q

Gardner Syndrome

A

FAP + osseous and soft tissue tumors, congenital hypertrophy of retinal epithelium

129
Q

Turcot Syndrome

A

FAP + malignant CNS tumor

130
Q

Lynch Syndrome

A

HNPCC, AD mut in DNA mismatch repair gene

80% progress to CRC, proximal colon MC involved

131
Q

Familial Adenomatous Polyposis (FAP)

A

AD mut in APC (Chr. 5q) -> multiple polyps 100% progress to CRC

132
Q

Reye Syndrome

A

rare fatal childhood hepatoencephalopathy
mitochondrial abnormalities, fatty liver (microvesicular), hypoglycemia, vomiting, hepatomegaly, coma
asso. w/ viral infection (VZV, influ B) treated w/ ASA
ASA only appropriate for Kawasaki Disease

133
Q

Cavernous Hemangioma

A

common, benign liver tumor
common 30-50 y/o
biopsy contra due to bleeding

134
Q

Hepatic Adenoma

A

Hepatoma
rare, benign liver tumor related to OCP or anabolic steroids
regress spontaneously or rupture

135
Q

Angiosarcoma of Liver

A

malignant tumore endothelial origins

related to arsenic or vinyl chloride exposure

136
Q

Budd-Chiari Syndrome

A

occlusion of IVC or hepatic veins with centrilobular congestion and necrosis -> congestive liver disease
hepatomegaly, ascites, ab pain, varices, liver failure
absent JVD
asso. w/ hypercoagulable state, polycythemia vera, pregnancy, OCP, HCC

137
Q

Gilbert Syndrome

A

mild dec. in UDP-glucuronosyltransferase conjugation
asymptomatic jaundice w/ elevated unconjugated/indirect bilirubin w/o over hemolysis
inc. with stress/alcohol and fasting

138
Q

Crigler-Najjar Syndrome, type 1

A

Absent UDP-glucuronosyltransferase conjucation
jaundice, kernicterus (bilirubin in brain), elevated unconjugated bilirubin
present early in life, die w/in first few years
Tx: plasmapheresis and phototherapy

139
Q

Crigler-Najjar Syndrome, type 2

A

milder version of type 1
responds to Phenobarbital
induces Cyp2B6 to inc. metabolism

140
Q

Dubin-Johnson Syndrome

A

defective liver excreting of conjugated bilirubin

elevated conjugated bilirubin, Black liver, benign

141
Q

Rotor Syndrome

A

similar to Dubin-Johnson but mild and no black liver

142
Q

Wilson Disease

A

AR mut in ATP7B responsible for Cu excretion into bile
dec. ceruloplasmin, cirrhosis, Kayser-Fleischer ring, HCC, hemolytic anemia, basal ganglia deposition (parkinsonism), asterixis, dementia, dyskinesia, dysarthria
Tx: penicillamine, trientine

143
Q

Hemochromatosis

A

deposition of hemosiderin -> cirrhosis, “bronze” DM
inc. ferritin, Fe, dec. TIBC
primary: mut on HFE, asso. w/ HLA-A3
Tx: phlebotomy, deferasirox, deferoxamine
secondary: due to excessive transfusion (don’t phlebotomy)

144
Q

Secondary Biliary Cirrhosis

A

extrahepatic biliary obstruction
pruritus, jaundice, dark urine, light stools, hepatosplenomegaly
inc. conjugated bilirubin, cholesterol, ALP
complicated by ascending cholangitis

145
Q

Primary Biliary Cirrhosis

A

AI lymphocytic infiltrate + granulomas
distruction of intralobular bile ducts
inc. anti-mitochondrial antibodies
asso. with other AI conditions

146
Q

Primary Sclerosis Choangitis

A

concentric onion-skinning bile duct fibrosis
alternating strictures -> beading of intra/extra hepatic bile ducts
asso. w/ hypergammaglobulinemia, ulcerative colitis
lead to secondary biliary cirrhosis and cholangiocarcioma

147
Q

Porcelain Gallbladder

A

calcified gallbladder due to chronic cholecystitis

prophylactic cholecystectomy due to high rates of gallbladder carcinoma

148
Q

Trousseau Syndrome

A

migratory thrombophlebitis w/ redness and tenderness on palpation of extremities
asso. w/ pancreatic adenocarcinoma

149
Q

Courvoisier Sign

A

obstructive jaundice w/ palpable non-tender gallbladder

asso. w/ pancreatic adenocarcinoma

150
Q

alpha-Thalassemia

A 
defective alpha-hemaglobin
cis del: Asians; trans del African
Hb Barts (4 allele del), HbH (3 allele del, high beta4 excess globin)
1-2 allele del, no symptoms
151
Q

beta-Thalassemia

A

point mut in splice site or promoter sequence -> dec. globin synthesis
prevalent in Mediterranean populations
Minor (heterzygous): no symptoms, elevated HbA2
Major (homozygous): severe anemia, marrow expansion, extramedullary hematopoiesis, inc. risk aplastic crisis with B19 infection
HbF protective until 6mo old

152
Q

Lead Poisoning

A

inhibit ferrochelatase and ALA dehydratase -> dec heme, inc. RBC protoporphyrin and delta-ALA
inhibit rRNA degradation -> basophilic stippling
lead lines (gingivae/bone), encephalopathy, abdominal colic, sideroblastic anemia, wrist/foot drop
succimer for kids, EDTA/dimercaprol

153
Q

Sideroblastic Anemia

A

XLR defect in delta-ALA synthase
ringed sideroblasts w/ Fe ladened mitochondria
inc. Fe and ferritin, norm TIBC
Tx: pyridoxine (B6)
reversible causes: alcohol, lead, B6 deficiency, Cu deficiency, isoniazid

154
Q

Folate Deficiency

A

hypersegmented neutrophils, glossitis, inc. homocysteine, norm methylmalonic acid
NO neurological symptoms

155
Q

B12 (cobalamin) Deficiency

A

hypersegmented neutrophils, glossitis, inc. homocysteine, inc. methylmalonic acid
Neuro Symptoms: peripheral neuropathy w/ sensorimotor dysfunction, dorsal column, lateral corticospinal, dementia
fish tape worm (Diphyllobothrium latum) can cause

156
Q

Orotic Aciduria

A

AR inability to convert orotic acid to UMP
megaloblastic anemia not cured by folate of B12 w/ failure to thrive
No hyperammonia, just inc. orotic acid (diff from OTC)
Tx: UMP supplement

157
Q

Hereditary Sperocytosis

A

defective RBC membrane skeleton (ankyrin, band 3, spectrin, protein 4.2)
small round RBC w/ less membrane and no central pallor
premature removal by spleen (tx w/ splenectomy)
+ osmotic fragility, eosin-5-maleimide binding test, norm-dec MCV
splenomegaly, aplastic crisis w/ B19 infection

158
Q

Pyruvate Kinase Deficiency

A

AR dec. ATP, rigid RBC

hemolytic anemia in newborn

159
Q

Paroxysmal Nocturnal Hemoglobinuria

A

defect decay-acceleratign factor -> complement mediated hemolysis
can be acquired in hematopoietic stem cell
Coombs -, pancytopenia, venous thrombosis, CD55/59 - RBC
Tx: eclizumab (inhibit C5)

160
Q

Acute Intermittent Porphyria

A

defect porphobilinogen deaminase
accumulate porphobilinogen, delta-ALA, coporphobilinogen
painful abdomen, port wine urine, polyneuropathy, psychological disturbance
precipitated by drugs, alcohol, and starvation
Tx: glucose and heme

161
Q

Porphyria Cutanea Tarda

A

defect uroporphyrinogen decarboxylase
accumulate uroporphyrin
blistering cutaneous photosensitivity

162
Q

Bernard-Soulier Syndrome

A

defect platelet plug formation
dec. GpIb -> defect platelet-vWF binding
dec platelet count, inc. bleeding time

163
Q

Glanzmann Thrombasthenia

A

defect platelet plug formation
dec. GpIIb/IIIa -> defect platelet-platelet aggregation
smear show no platelet clumping

164
Q

Immune Thrombocytopenia

A

anti-GpIIb/IIIa antibodies -> splenic macrophage consumption
may be triggered by viral infection
inc in megakaryocytes

165
Q

Thrombotic Thrombocytopenic Purpura

A

inhibition/deficiency of ADAMTS13 -> large vWF multimers
inc platelet adhesion, aggregation, and thrombosis
schistocytes, inc. LDH
neurological, renal symptoms, fever, thrombocytopenia, microangiopathic hemolytic anemia

166
Q

von Willebrand Disease

A

MC AD mild bleeding disorder, inc. BT and norm or inc. PTT
dec. vWF -> unprotected VIII and defective platelet plug
diagnose wi/ ristocetin cofactor assay
Tx: DDAVP -> releases vWF stored in endothelium

167
Q

Factor V Leiden

A

mut factor V resistant to degradation by protein C

MC inherited hypercoagulability in caucasians

168
Q

Protein C or S Deficiency

A

dec ability to inactivate factor V and VIII -> skin necrosis w/ hemorrhage following warfarin

169
Q

Burkitt Lymphoma

A 
adolescents and young adults
t(8;14) c-myc;Igheavy
"starry sky" appearence, sheet of lymphocytes
asso. w/ EBV
jaw lesion endemic form
pelvis/abdomen in sporadic form
170
Q

Diffuse Large B Cell Lymphoma

A

MC non-Hodgkins in older adults, 20% in children

t(14;18)

171
Q

Mantle Cell Lymphoma

A

older males
t(11;14) cyclinD1;Igheavy
CD5+

172
Q

Follicular Lymphoma

A

adults
t(14;18) Igheavy;bcl-2
indolent course, painless waxing and waning lymphadenopathy

173
Q

Adult T Cell Lymphoma

A

HTLV-1 (asso. w/ IV drug abuse)

cutaneous lesions, lytic bone lesions, hypercalcemia

174
Q

Mycosis Fungoides

A

Indolent, CD4+
cutaneous patches/plaques/tumors w/ potential to spread to lymph nodes
Sezary: circulating malignant version

175
Q

Multiple Myeloma

A

monocolonal plasma cell -> fried egg, in elderly
infection, AL amyloid, punched-out lytic bone lesions, M spike, Bence Jones in urine, rouleaux formation
CRAB: hypercalcemia, renal insufficiency, anemia, lytic bone lesions/back pain

176
Q

Waldenstrom Macroglobulinemia

A

M spike = IgM -> hyperviscosity symptoms

No lytic bone lesion

177
Q

Monocolonal Gammopathy of Undetermined Significance (MGUS)

A

monocolonal <10%

asymptomatic precursor for multiple myeloma (1-2%/yr)

178
Q

Myelodysplastic Syndrome

A

stem cell disorder, ineffective hematopoiesis
defect in maturation of all non-lymphoid lineages
can be cause by de novo mutation or environmental exposure
risk transform to AML

179
Q

Pseudo-Pelger-Huet Anomaly

A

bilobed neutrophil typically seen after chemotherapy

180
Q

Hairy Cell Leukemia

A

adult, mature B cell, filamentous hair-like projections
TRAP + stain -> marrow fibrosis (dry tap on aspiration)
Tx: clabribine (adenosine analogue)

181
Q

Langerhans Cell Histocytosis

A

proliferative disorder of dendritic cells (monocyte lineages)
child w/ lytic bone lesions, skin rash, recurrent otitis media w/ mass of mastoid bone
functionally immature cells, don’t work to stimulate T cells
express S-100 and CD1a
Birbeck granules on EM

182
Q

Polycythemia vera

A

Hct>55%, mut. in JAK2, intense itchy after shower

erythromelagia (severe, burning pain and reddish/bluish) due to episodic clot of extremities

183
Q

Heparin Induced Thrombocytopenia

A

IgG antibodies against heparin bound to platelet factor 4 (PF4) -> complex activates platelets -> thrombocytopenia

184
Q

Achondroplasia

A

failure of long bone growth -> short limbs
normal membranous ossification -> relatively large head and trunk
constitutive FGF3 -> inhibit chondrocyte proliferation
>85% sporadic asso w/ advanced paternal age
AD inheritence, MC cause of dwarfism
normal lifespan and fertility

185
Q

Osteopetrosis

A

failure of normal resporption due to defective osteoclasts -> thickened, dense bones prone to fracture
bone fill marrow space -> pancytopenia, extramedullary hematopoiesis
mut in CAII impair ability to generate acidic environment
X-ray: bone in bone appearence
cranial nerve impingement and palsies
Tx: bone marrow transplant

186
Q

Osteomalacia/Ricketts

A

Vit D def. -> defective mineralization/calcification of osteoid
soft, bow out bone, dec. Ca, inc. PTH, dec Phos
hyperactive osteoclast -> inc. ALP

187
Q

Paget Disease of Bone

A

localized inc. in osteoblast and osteoclast
inc. ALP, normal Ca and PTH
mosaic pattern, woven and lamellar bone -> long bone chalk stick fractures
inc. blood flow from AV shunts -> high-output HF
inc. risk osteogenic sarcoma
inc. hat size and hearing loss

188
Q

Osteitis Fibrosa Cystica

A

“brown tumor” due to fibrous replacement of bone

subperiosteal thinning

189
Q

Giant Cell Tumor (bone)

A

20-40y/o, epiphyseal, soap-bubble on x-ray, locally aggressive, multinucleated giant cells

190
Q

Osteochondroma

A

males <25y/o, MC benign

mature bone w/ cartilaginous cap, rarely transforms

191
Q

Osteosarcoma

A

bimodal age, 2nd MC primary malignant, metaphysis at knee
predispose: paget, infarcts, radiation, Rb, Li-Fraumeni
Codman Triangle: elevation periosteum on xray
aggressive: resection and chemo

192
Q

Ewing Sarcoma

A

male <15y/o, diaphysis long bone, pelvis, scapula, ribs
anaplastic small blue cells
extremely aggressive, early metastasis, but responsive to chemo
t(11;22) associated

193
Q

Chondrosarcoma

A

rare, malignant, cartilage tumor (can be from osteochondroma)
male 30-60 y/o, pelvi, spine, scapula, humerus, tibia, femur
expansile glistening mass w/in medullary cavity

194
Q

Psoriatic Arthritis

A

asymmetric, pain/stiffness w/ psoriasis (<1/3), dactylitis (sausage fingers), pencil-in-cup

195
Q

Ankylosing Spondylitis

A

chronic inflam of spine/sacroiliac joint, bamboo spine

ankylosis: stiff spine due to fusion, uveitis, aortic regurg

196
Q

Reactive Arthritis

A

Reiter Syndrome
conjunctivitis (anterior uveitis), urethritis, arthritis
can’t see, pee, climb a tree
Post-GI: shigella, salmonella, yersinia, campylobacter, or chlamydia

197
Q

Sarcoidosis

A

widespread, non-caseating granuloma, elevate ACE levels
MC in Af.Am. female, asymptomatic w/ enlarged lymph nodes
CXR incidental w/ bilater hilar adenopathy + reticular opacities
restrictive/interstitial fibrosis, erythema nodosum, lupus pernio, Bell palsy, epithelioid granulomas (Schaumann and astroid bodies) uveitis, hypercalcemia

198
Q

Polymyalgia Rheumatica

A

pain, stiffness at shoulder and hip w/ fever, malaise, and weight loss asso. w/ temporal arteritis
NO muscle weakness (normal CK)
inc. ESR, inc. C-reactive protein

199
Q

Polymyositis

A

progressive, symmetrical proximal muscle weakness
endomysial inflammation w/ CD8 cells, esp. shoulder
inc. CK. + ANA, anti-Jo-1, anti-SRP, anti-Mi-2

200
Q

Dermatomyositis

A

polymyositis + malar rash, Gottron papules, heliotrope rash, “shawl and face” rash, mechanic’s hands”
inc risk occult malignancy
perimysial infalmmation and atrophy w/ CD4 cells
inc. CK. + ANA, anti-Jo-1, anti-SRP, anti-Mi-2

201
Q

Myasthenia Gravis

A

Ab to postsynaptic ACh receptor
ptosis, diplopia, weakness, worsen w/ use
thymoma, thymic hyperplasia
diagnose w/ AChE inhibitor

202
Q

Lambert-Eaton

A

Ab to presynaptic Ca channel -> dec. ACh release
proximal muscle weakness, autonomic symptoms, improve w/ use
small cell lung cancer
no effect w/ AChE inhibitor

203
Q

Myositis Ossificans

A

metaplasia skeletal muscle -> bone following trauma

suspicious mass at site of known trauma

204
Q

Diffuse Scleroderma

A

widespread excessive skin fibrosis, rapidly progressive, early visceral involvement (renal, pulmonary, CV, GI)
anti-Scl-70 antibodies (anti-DNA TopoI)

205
Q

CREST Syndrome

A

limited sclerodermal to the skin, more benign
calcinosis, raynaud, esophageal dysmotility, sclerodactyly, telangiectasia
anti-centromere antibodies

206
Q

Melasma

A

chloasma

hyperpigmentation asso. w/ pregnancy and OCP

207
Q

Vitiligo

A

irregular hypopigmenation due to AI destruction of melanocytes

208
Q

Ephelis

A

freckles, normal number put increase pigment

209
Q

Seborrheic Keratosis

A

flat, greasy, pigmented squamous epithelial proliferation w/ keratin-filled cysts (horn cysts), looks stuck on
Leser-Trelat Sign: sudden appearance of multiple seborrheic keratoses -> some underlying malignancy

210
Q

Hairy Leukoplakia

A

white painless plaque on tongue, cannot scrap off

EBV mediated in HIV patients

211
Q

Pemphigus Vulgaris

A

IgG to desmoglein (in desmosome) -> flaccid intraepidermal bullae (in spinosum layer)
potentially fatal, Nikolsky sign +
reticular like IF image

212
Q

Bullous Pemphigoid

A

IgG to hemidesmosomes, tense blisters, spare mucosa
less severe, Nikolsky sign -
linear If at epidermal-dermal junction

213
Q

Dermatitis Herpetiformis

A

pruritic patules, vesicles, bullae often on elbows
asso. w/ celiac
deposit IgA at tips of dermal papillae

214
Q

Erythema Multiforme

A

asso. w/ infection, drugs, cancer, and AI

multiple macules, papules, vesicles, and target leisons

215
Q

Actinic Keratosis

A

premalignant due to sun exposure -> squamous cell carcinoma

small, rough, erythematous/brownish papules or plaques

216
Q

Erythema Nodosum

A

painful inflam of subQ fat, usually anterior shins

idiopathic, asso w/ sarcoidosis, coccidioidomycosis, histoplasmosis, TB, strep infection, leprosy, and Crohns

217
Q

Lichen Planus

A

pruritic, purple, polygonal, planar, papules
sawtooth lymphocytic infiltrate at dermal-epidermal junction
asso. w/ HCV

218
Q

Pityriasis Rosea

A

herald patch followed by christmas tree distribution
multiple with collarette scale
self-resolving in 6-8 wks

219
Q

Sringomyelia

A

cystic cavity in spinal cord -> damage spinothalamic fibers
cape-like bilat loss of pain/temp in upper extremity
MC at C8-T1, asso. w/ Chiari I malformation

220
Q

Parkinson

A

degeneration of D neurons in sustantia nigra pars compacta
asso. w/ alpha-synuclein intracellular eosinophilic inclusion (Lewy Bodies)
tremor (at rest), cogwheel rigidity, akinesia, postural instability, shuffling gait

221
Q

Huntington

A

AD CAG repeat in huntingtin gene (Chr. 4) loss of ACh and GABA in caudate
neuron death by NMDA-R binding and Glu toxicity
choreiform movement, aggression, depression, dementia

222
Q

Hemibalismus

A

sudden, wild flailing of 1 arm +/- ipsi leg

X contralat subthalamic nucleus (i.e. lacunar stroke)

223
Q

Chorea

A

sudden, jerky, purposeless movement

X basal ganglia (i.e. huntington)

224
Q

Athetosis

A

slow, writhing movements, esp. fingers
X basal ganglia
snake-like writhing movement

225
Q

Myoclonus

A

sudden, brief, uncontrolled muscle contraction

jerks, hiccups, common in metabolic abnormalities (i.e. renal and liver failure)

226
Q

Dystonia

A

sustained, involuntary muscle contractions

writer’s cramp; blepharospasm (eye twitch)

227
Q

Essential Tremor

A

action tremor: exacerbated by holding limb
genetic predisposition
self-medicate w/ EtOH (dec amplitude)
Tx: beta block, primidone

228
Q

Resting Tremor

A

uncontrolled movement of distal appendages (i.e. parkinson)
alleviated by intentional movement
pill rolling tremor

229
Q

Intentional Tremor

A

slow, zigzag motion when pointing/extending toward a target

cerebellar dysfunction

230
Q

Kluver-Bucy Syndrome

A

X amygdala

hyperorality, hypersexuality, disinhibited behavior

231
Q

Spatial Neglect Syndrome

A

X R parietal-temporal cortex

232
Q

Gerstmann Syndrome

A

X L parietal-temporal cortex

agraphia, acalculia, finger agnosia, and L-R disorientation

233
Q

Wernicke-Korsakoff Syndrome

A

confusion, ophthalmoplegia, ataxia, memory loss (antero/retrograde amnesia), confabulation, personality changes
asso. w/ B1 deficiency and excessive EtOH, precipitated by glucose w/o B1

234
Q

Medial Medullary Syndrome

A

infarct paramedian branches of ASA/vertebral arteries
contra hemiparesis, dec proprioception
ipsi hypoglossal dysfunction

235
Q

Lateral Medullary (Wallenberg) Syndrome

A

infarct PICA -> damage Nucleus Ambiguus
vomit, vertigo, nystagmus, dec pain/temp from ipsi face and contra body, dysphagia, hoarsness, dec. gag reflex, ipsi Horner, ataxia, dysmetria

236
Q

Lateral Pontine Syndrome

A

infarct AICA -> facial n. paralysis, dec. sensation from face
vomit, vertigo, nystagmus, dec. lacrimation/salivation, dec taste anterior 2/3, dec corneal reflex, ipsi Horner, ataxia, dysmentria

237
Q

Ischemic Brain Histology

A

red neuron -> necrosis + neutrophils -> macrophages -> reactive gliosis + vascular proliferation -> glial scar

238
Q

Spinal Muscular Atrophy (Werdnig-Hoffmann)

A

AR congenital degeneration of anterior horn -> LMN lesion
floppy baby w/ hypotonia, tongue fasciculations
median age death of 7mo

239
Q

Friedreich Ataxia

A

AR GAA repeat on frataxin (Chr. 9) -> impairment of mitochondrial functioning
degeneration of multiple spinal cord tracts -> muscle weakness, loss of DTRs, vibratory sense, proprioception
staggering gait, freq falling, nystagmus, dysarthria, pes cavus, hammer toe, hypertrophic cardiomyopathy
early kyphoscoliosis

240
Q

Parinaud Syndrome

A

paralysis of conjugate vertical gaze due to lesion of superior colliculi

241
Q

Cavernous Sinus Syndrome

A

X cavernous sinus due to mass effect, fistula, thrombosis
ophthalmoplegia, dec corneal/maxillary sensation w/ normal visual acuity
CN VI commonly affected

242
Q

Acute Closure Glaucoma

A

ophthalmic emergency!
inc IOP pushes iris forward -> angle closes abruptly
very painful, sudden loss of vision loss, halo around lights, rock-hard eye, frontal headache
don’t give epinephrine

243
Q

Cataract

A

age, smoking, EtOH, excessive sunlight, prolong corticosteroid, classic galactosemia, galactokinase deficiency, diabetes, trauma, infection

244
Q

Marcus Gunn Pupil

A

afferent pupillary defect

245
Q

Alzheimer Disease

A

dec. ACh
early/familial: APP (Chr.12), presenilin-1 (Chr. 14), presenili-2 (Chr. 1)
late: ApoE4 (Chr. 19) - Apo2 is protective
extracellular beta-amyloid (cleavage of APP)
intracellular neurofibrillary tangles (hyperphos tau protein)

246
Q

Pick Disease

A

frontotemporal atrophy
dementia, aphasia, parkinsonian, change in personality
spare parietal lobe and posterior 2/3 of temporal gyrus
pick bodies: spherical tau

247
Q

Lewy Body Dementia

A

dementia/visual hallucination -> parkinsonian feature

alpha-synuclein defect

248
Q

Guillain-Barre

A

symmetric ascending muscle weakness/paralysis
AI destroy schwann cells
autonomic function severely affected
most patient survive and recover
follow Campylobacter jejuni and CMV due to mimicry

249
Q

Progressive-Multifocal Leukoencephalopathy

A

demyelinating of oligodendrocyte, asso w/ JC virus and AIDs

rapidly progressive, usually fatal

250
Q

Metachromatic Leukodystrophy

A

AR lysosomal storage disease due to arylsulfatase A deficiency -> build up sulfatides -> impaired production
centra/peripheral demyelination w/ ataxia, dementia

251
Q

Charcot-Marie-Tooth Disease

A

AD progressive hereditary motor/sensory neuropathy
defective production of protein in myelin
w/ scoliosis and foot deformities (high or flat arches)

252
Q

Adrenoleukodystrophy

A

XLR disrupt very-long chain fatty acid -> buildup nervous system, adrenal gland, and testes
long-term coma/death and adrenal gland crisis

253
Q

Sturge-Weber Syndrome

A

anomaly of neural crest derivatives due to activating mut of GNAQ
unilateral port-wine stain of the face (small blood vessels)
ipsi leptomeningeal angioma -> seizure/epilepsy, intellectual disability
episcleral hemangioma -> inc IOP -> early glaucoma

254
Q

von Recklinhausen Disease

A

NF1 (Chr. 17) from neural crest

cafe-au-lait spots, Lisch nodules, neurofibromas in skin, optic gliomas, pheochromocytomas

255
Q

von Hippel-Lindau Disease

A

AD mut in VHL (Chr. 3) -> constitutive HIF activation
cavernous hemangioma in skin, mucosa, organs
bilateral renal cell carcinoma
hemangioblastoma in retina, brain stem, cerebellum
pheochromocytoma

256
Q

Neuroleptic Malignant Syndrome

A

rigidity, myoglobinuria, autonomic instability, hyperpyrexia

Tx: dantrolene, D2 agonist

257
Q

Tardive Dyskinesia

A

stereotypic oral-facial movement w/ long-term antipsychotic

irreversible

258
Q

Hartnup Disease

A

AR def. neutral amino acid transport in PCT and enterocyte
pellega-like symptoms
treat w/ high protein and nicotinic acid

259
Q

Fanconi Syndrome

A

PCT reabsorptive defect, everything slip through
metabolic acidosis
caused by inherited, ischemia, nephrotoxins

260
Q

Bartter Syndrome

A

thick ascending loop reabsorptive defect
AR affect N/K/2Cl transporter
hypokalemia, metabolic alkalosis w/ hypercalciuria

261
Q

Gitelmann Syndrome

A

DCT reabsorptive defect
AR affect NaCl transporter
hypokalemia, metabolic acidosis w/o hypercalciuria

262
Q

Liddle Syndrome

A

AD inc Na reabsorption in DCT and CD
hypertension, hypokalemia, metabolic alkalosis, dec. aldo
Tx: amiloride

263
Q

Type 1 RTA

A

distal, pH>5.5, defect alpha-intercalated cell to secrete H+ -> no new HCO3- -> metabolic acidosis, hypokalemia, stones
causes: ampho B, analgesic, multiple myeloma, congenital anomalies

264
Q

Type 2 RTA

A

PCT defect in HCO3- reabsorption -> metabolic acidosis, hypokalemia, risk of hypophos ricketts
alpha-intercalated still works, so urine is acidified (ph <5.5)
causes: fanconi, chemical toxin, CA inhibitor

265
Q

Type 4 RTA

A

anything causing hyperkalemia -> impair ammoniagenesis -> buffering capacity and dec H+ excretion (pH<5.5)
hypoaldo, aldo resistance, K-sparing diuretics

266
Q

Renal Oncocytoma

A

benign epithelial tumor of kidney, CD origin
well-circumscribed, large eosinophilic cells w/ abundant mitochondria w/o perinuclear clearing
present painless hematuria, flank pain, abdominal mass
take it out

267
Q

Wilms Tumor

A

nephroblastoma
early childhood w/ embryonic glomerular structures
huge palpable flank mass +/- hematuria

268
Q

Beckwith-Wiedemann Syndrome

A

Wilms tumor, aniridia, genitourinary malformation, mental retardation

269
Q

ARPKD

A

AR infantile form

Asso w/ congenital hepatic fibrosis, Potter Sequence

270
Q

ADPKD

A

AD adult form, mut in PKD1 (Chr. 16) or PKD2 (Chr. 4)
large, innumerable cysts bilat destroy parenchyma
flank pain, hematuria, HTN, urinary infection, progressive renal failure
Asso w/ berry aneurysm, mitral valve prolapse, benign hepatic cysts

271
Q

Medullary Cystic Disease

A

inherited causing tubulointersitial fibrosis and progressive renal failure w/ inability to concentrate
shrunken kidney, poor prognosis

272
Q

Treacher Collins Syndrome

A

1st arch neural crest fail to migrate -> mandibular hypoplasia, facial abnormalities

273
Q

Congential Pharyngocutaneous Fistula

A

persistent of a cleft (external) and pouch (internal) -> fistula b/w tonsillar area and lateral neck

274
Q

Klinefelter Syndrome

A

Male XXY

testicular atrophy, eunuchoid body shape, long extremities, gynecomastia, female hair distribution, developmental delay

275
Q

Turner Syndrome

A

Female XO
short stature, ovarian dysgenesis (streak ovary), shield chest, bicuspid aortic valve, preductal coarctation, webbed neck, cystic hygroma, lymphedema, horseshoe kidney

276
Q

Aromatase Deficiency

A

inability to synthesize estrogens
masculinization of female, ambiguous genitalia, inc. serum testosterone/androstenedione
present and maternal virilization during pregancy

277
Q

Androgen Insensitivity Syndrome

A

defect androgen receptor, look like normal female
rudimentary vagina, absent uterus and fallopian tubes absent, scant sexual hair
developed testis usually at labia majora, need removed
high hormones

278
Q

5alpha-reductase deficiency

A

AR ambiguous genitalia until puberty when inc testosterone causes quick masculinization
normal internal genitalia

279
Q

Kallmann Syndrome

A

defect migration of GnRH cells and formation of olfactory bulb
weird combo of no puberty + can’t smell

280
Q

Brenner Tumor

A

looks like bladder

solid pale yellow appears encapsulated

281
Q

Krukenberg Tumor

A

GI malignancy Met to ovary, muscin-secreting signet cell adenocarcinoma

282
Q

Asbestosis

A

ivory white calcified pleural plaques (not precancerous)
inc risk of bronchogenic carcinoma and mesothelioma
lower lobe ferruginous bodies (golden-brown fusiform rods resembling dumbbells)

283
Q

Coal Workers’ Pneumoconiosis

A

macrophages ladened w/ carbon -> inflam and fibrosis

affects upper lobes

284
Q

Silicosis

A

foundries, sandblasting, and mines
macrophages respond by release fibrogenic factor -> fibrosis -> disrupt phagolysosome, inc susceptibility to TB
eggshell calcification of hilar lymph nodes
risk of bronchogenic carcinoma

STEP 1 (10 decks)

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