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
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
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
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
5
Q
Menkes Disease
A
impair Cu absorption and transport, connective tissue defect
dec. Lysyl Oxidase (Cu cofactor) -> brittle/kinky hair, growth retardation, hypotonia
6
Q
Prader-Willi Syndrome
A
Chr. 15 maternal imprinting (silent); paternal defect
25% maternal uniparental disomy
hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia
7
Q
Angelman Syndrome
A
Chr. 15 paternal imprinting (silent); maternal defect
5% paternal uniparental disomy
inappropriate laughter, seizures, ataxia, server intellectual disability
8
Q
Hypophosphatemic Rickets
A
Vit D resistant rickets
proximal tubule phos wasting
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
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)
11
Q
Familial Adenomatous Polyposis
A
AD colon covered in adenomatous polyps after puberty -> cancer unless entire colon resected
mut. APC (Chr. 5)
12
Q
Hereditary Hemorrhagic Telangiectasia
A
(Osler-Weber-Rednu) AD blood vessel disorder
telangiectasia, recurrent epistaxis, skin discolorations, AVMs, GI bleed, hematuria
13
Q
Hereditary Spherocytosis
A
AD due to mut. Spectrin or Ankyrin
Inc. MCHC on CBC
Tx: splenectomy
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)
15
Q
Tuberous Sclerosis
A
AD, incomplete penetrance, variable expression
nuerocutaneous disorder, multiple organs
hamartomas
16
Q
von Hippel-Lindau Disease
A
AD del. VHL (Chr. 3) many tumors (benign and malignant
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
18
Q
Myotonic Type 1
A
CTG expansion of DMPK
myotonia, muscle wasting frontal balding, cataracts, testicular atrophy, arrhythmia
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
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
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)
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
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
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
25
22q11 del Syndromes
variable presentation -> DiGeorge, Velocardiofacial Syndrome
aberrant 3rd and 4th branchial pouches
cleft palate, abnormal facies, thymic aplasia, cardiac defect, hypocalcemia (due to parathyroid aplasia)
26
G6PD Deficiency
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
27
Fructose Intolerance
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
28
Galactokinase Deficiency
AR inherited Galactokinase deficiency, accumulate galactitol, found in urine
infantile cataracts, failure to track objects, social smile
29
Classic Galactosemia
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
30
N-Acetylglutamate Deficiency
required cofactor for carbamoyl phosphate synthetase I -> hyperammonemia
present identical to carbamoyl phosphate synthase I deficiency, except inc. ornithine with normal urea cycle enzyme
31
OTC Deficiency
XLR, MC urea cycle defect
hyperammonemia in first few days of life
Inc. orotic acid blood/urine, dec. BUN, hyperammonemia
no megaloblastic anemia
32
Phenylketonuria (PKU)
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)
33
Maternal PKU
Mom w/ PKU poorly controlled with diet
| Infant: microcephaly, intellectual disability, growth retardation, congenital heart defects
34
Alkaptonuria
AR deficiency of Homogentisate Oxidase (Tyr -> fumarate)
| dark connective tissue, brown sclera, urine black when exposed to air, debilitating arthralgia (otherwise benign)
35
Homocystinuria
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
36
Cystinuria
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
37
Maple Syrup Urine Disease
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
38
von Gierke Disease
AR deficiency Glucose-6-Phosphatase
severe fasting hypoglycemia, high glycogen in liver, inc lactate, hepatomegaly
Tx: frequent oral glucose/starch, avoid fructose/galactose
39
Pompe Disease
AR deficiency Lysosomal alpha-1,4-Glucosidase
cardiomyopathy + systemic -> early death
(Pompe trashes the Pump)
40
Cori Diease
AR deficiency Debranching alpha-1,6-glucosidase
mild hypoglycemia, glycogen accumulation due to functional gluconeogenesis
normal lactate levels
41
McArdle Disease
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)
42
Fabry Disease
XLR deficiency alpha-Galactosidase A
Ceramide Trihexoside accumulate
peripheral neuropathy, angiokeratomas, CV/renal disease
43
Gaucher Disease
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
44
Niemann-Pick Disease
AR deficiency Sphingomyelinase
Sphingomyeline accumulation
progressive neurodegeneratoin, hepatosplenomegaly, cherry-red spots on macula, foam cells
45
Tay-Sachs Disease
AR deficiency of Hexosaminidase A
GM2 Ganglioside accumulation
progressive neurodegeneration, developmental delay, cherry-red spots on macula, lysosome onion skin
no hepatosplenomegaly
46
Krabbe Disease
AR deficiency Galactocerebrosidase
Galactocerebrosidase Psychosine accumulation
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
47
Metachromatic Leukodystrophy
AR deficiency Arylsulfatase A
Cerebroside Sulfate accumulation
central and peripheral demyelination w/ ataxia, dementia
48
Hurler Syndrome
AR deficiency alpha-L-Iduronidase
Heparan Sulfate, Dermatan Sulfate accumulation
developmental delay, gargoylism,airway obstruction, corneal clouding, hepatosplenomegaly
49
Hunter Syndrome
XLR deficiency Iduronate Sulfatase
milder Hurler + aggressive behavior
no corneal clouding (hunters see clearly)
50
Carnitine Deficiency
inability to transport LCFA into mito -> toxic accumulation
| weakness, hypotonia, hypoketoic hypoglycemia
51
Acyl-CoA Dehydrogenase Deficiency
inc. dicarboxylic acid, dec. glucose/ketones
| remember, acetyl-CoA is a pos regulator of pyruvate carboxylase (gluconeogenesis)
52
Hyperchylomicronemia (type I)
AR deficiency of Lipoprotein Lipase or altered Apo-CII
High chylomicrons (milky blood), TG, cholesterol
pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas
NO inc. atherosclerosis risk
53
Familial Hypercholesterolemia (type IIa)
AD absent/defective LDL Receptor
hetero: ~300mg/dL LDL levels
homo: ~700mg/dL
accelerated atherosclerosis (MI <20 y/o), tendons (Achilles) xanthomas, corneal arcus
54
Hypertriglyceridemia (type IV)
AD hepatic overproduction of VLDL
| pancreatitis
55
Weil Disease
Severe Leptospira interrogans (ice tong bacteria)
flu-like, jaundice, azotemia, photophobia w/ conjunctival suffusion, fever, hemorrhage, and anemia
common among surfers
56
Argyll Robertson Pupil
pupil constriction w/ accommodation but not reactive to light
"prostitute pupil" associated with tertiary syphilis
57
Jarisch-Herxheimer Reaction
flu-like syndrome after antibiotics are started due to killed bacteria releasing pyrogens
58
Lymphogranuloma Venereum
Chlamydia trachomatis (L1-L3)
infection of lymphatics
painless genital ulcers, painful lymphadenopathy (buboes)
59
X-Linked Agammaglobulinemia
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
60
Selective IgA Deficiency
MC immunodeficiency, pt. largely unaware/asymptomatic
airway/GI infections, autoimmune, atopy
anaphylaxis to IgA in bood products
IgA <7mg/dL w/ normal other classes
61
Common Variable Immunodeficiency
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
62
Thymic Aplasia (DiGeorge)
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
63
IL-12 Receptor Deficiency
AR dec. Th1 response
disseminated TB and fungal, present after BCG admin
dec. IFN-gamma
64
Hyper-IgE (Job) Syndrome
AD STAT3 mut. -> deficiency Th17 cell and neutrophil
| coarse facies, cold/noninflam staph infection, abscessing, retain primary teeth, inc. IgE/dec. IFN-gamma, eczema
65
Chronic Mucocutaneous Candidiasis
T Cell dysfunction
noninvasive Candida skin and mucous infection
absent in vitro T cell proliferation in response to Candida antigens
66
Severe Combined Immunodeficiency (SCID)
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)
67
Ataxia-Telangiectasia
ATM defect -> dsDNA break -> cell cycle arrest
cerebellar defect (ataxia), spider angiomas (telangiectasia), IgA def.
inc AFP, dec IgA, IgG, IgE
lymphopenia, cerebellar atrophy
68
Hyper-IgM Syndrome
```
XLR MC due to defective CD40L -> defective class switching
severe pyrogenic, Pneumocystis, Cryptosporidium, CMV
high IgM, low other classes
```
69
Wiskott-Aldrich Syndrome
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
70
Leukocyte Adhesion Deficiency (type 1)
```
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
```
71
Chediak-Higashi Syndrome
```
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
```
72
Chronic Granulomatous Disease
XLR defect NADPH oxidase -> dec. ROS and absent respiratory burst
susceptible to catalase + organisms
Pseudomonas, Listeria, Aspergillus, Candida, E. coli, S. aureus, Serrtia
73
Cardio Wide Splitting
exaggeration of normal splitting in inspiration
| due to delay RV emptying (pulmonic stenosis, R bundle branch block)
74
Cardio Fixed Splitting
wide pulmonic delay regardless of inspiration
| ASD -> L-to-R shunt -> inf flow through pulmonic valve
75
Paradoxical Splitting
aortic > pulmonic during expiration (complete reverse)
| due to delay LV emptying (aortic stenosis, R bundle branch block)
76
Romano-Ward Syndrome
AD pure cardiac congenital long QT
77
Jervell and Lange-Nielsen Syndrome
AR congenital long QT + sensorineural deafness
78
Wolff-Parkinson-White Syndrome
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
79
Torsades de Pointes
polymorphic ventricular tachycardia
shifting sinusoidal waveform -> VFib
predisposed with long QT (congenital or anything that dec K and Mg)
Tx: MgSulfate
80
Eisenmenger Syndrome
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
81
Monckeberg Arteriosclerosis
uncommon medial calcification of arteries, esp. ulnar and radial, no intima involvement
usually benign, pipestem arteries on x-ray
82
Coronary Steal Syndrome
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
83
Prinzmetal Angina
angina at rest secondary to coronary vasospasm -> transient ST elevation
triggered by tobacco, cocaine, and triptans
Tx: CCB, nitrates, smoking cessation
84
Hypertrophic Cardiomyopathy
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
85
Kussmaul Sign
paradoxical rise in JVP w/ inspiration
| constrictive pericarditis, restrictive cardiomyopathies, right atrial or ventricular tumors
86
Pulsus Paradoxus
dec amplitude of systolic BP by >10mmHg during inspiration
| cardiac tamponade, asthma, obstructive sleep apnea, pericarditis, croup
87
Pyogenic Granuloma
polypoid capillary hemangioma can ulcerate and bleed
| associated w/ trauma and pregnancy
88
Cystic Hygroma
cavernous lymphangioma of the neck
| associated w/ Turner Syndrome
89
Glomus Tumor
benign, painful, red-blue tumor under fingernails
| from modified smooth muscle cell of glomus body
90
Bacillary Angiomatosis
benign capillary skin papules in AIDS
due to Bartonella henselae
commonly mistaken for Karposi sarcoma
91
Karposi Sarcoma
endothelial malignancy of skin, GI and respiratory tract
| associated with HHV-8 and HIV
92
17alpha-Hydroxlyase Def.
inc. mineralcorticoid; dec. cortisol, sex hormones
HTN, hypokalemia, dec. DHT
XY: pseudohermaphroditism
XX: lack secondary sexual development
93
21-Hydroxylase Def.
MC
inc. sex hormones; dec. mineralcorticoid, cortisol
HypoTN, hyperkalemia, high renin, 17-hydroxyprogesterone
infancy (salt-wasting), childhood (percocious puberty)
XX: virilization
94
11beta-Hydroxylase Def.
inc. sex hormones; dec. cortisol, aldo but inc. 11-deoxycorticosterone (like also)
low renin HTN, no electrolyte abnormalities
XX: virilization
95
Waterhouse-Friderichsen Syndrome
acute primary adrenal insufficiency due to hemorrhage
| associated with Neisseria meningitidis, septicemia, DIC, endotoxic shock
96
Congenital Hypothyroidism
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
97
Subacute Thyroiditis
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
98
Riedel Thyroiditis
thyroid replaced by fibrous tissue, may extend to local structures, mimic anaplastic carcinoma, related to IgG4 systemic disease
fixed, hard, painless goiter
99
Wolf-Chaikoff Effect
excess I temporarily inhibiting thyroid peroxidase (organification)
100
Osteitis Fibrosa Cystica
cystic bone spaces filled w/ brown fibrous tissue
associated with hyperparathyroidism
stones, bones, groans, and psychiatric overtones
101
Albright Hereditary Osteodystrophy
pseudohypoparathyroidism - AD
unresponsiveness of kidney to PTH
hypocalcemia, shortened 4/5th digits, short stature
102
Sheehan Syndrome
ischemic infarct of pituitary following postpartum bleeding
| present with failure to lactate
103
Carcinoid Syndrome
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
104
Zollinger-Ellison Syndrome
Gastrin secreting tumor of pancreas or duodenum
acid hypersecretion -> recurrent ulcers in distal duodenum and jejunum
ab pain, diarrhea
associated with MEN1
105
MEN 1
parathyroid, pituitary, pancreatic endocrine tumor
| present kidney stones, stomach ulcers
106
MEN 2a
medullary thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia
107
MEN 2b
medullary thyroid carcinoma, pheochromocytoma, oral/intestinal ganlioneuromatosis (mucosal neuromas)
Marfan habitus
108
Gastroschisis
extrusion of abdominal contents through abdominal folds, not covered by peritoneum
109
Omphalocele
persistance of herniation of abdominal contents into umbilical cord, sealed
110
Annular Pancreas
ventral bud encircles 2nd part of duodenum causing narrowing
111
Pancreas Divisum
ventral and dorsal parts fail to fuse at 8 wks
112
Menetrier Disease
gastric hypertrophy w/ protein loss, parietal cell atrophy, inc. mucous cells
precancerous
hypertrophic rugae that look like brain gyri
113
Whipple Disease
Tropheryma whipplei infection
PAS + foamy macrophages in intestinal lamina propria/mesenteric nodes
Cardiac, Arthralgia, Neurological symptoms in older white men
114
Celiac Sprue
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
Diverticulitis
"left sided appendicitis"
inflam of diverticula -> LLQ pain, fever, leukocytosis
risk of perforation -> peritonitis, abscess formation, bowel stenosis
Tx: antibiotics
116
Zenker Diverticulum
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
Meckel Diverticulum
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
Volvulus
twisting of bowel around mesentery -> obstruction and infarction
midgut common in children
sigmoid common in elderly
119
Hirschsprung Disease
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
Angiodysplasia
tortuous dilation of vessels -> hematochezia
| MC in elderly
121
Duodenal Atresia
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
Ileus
intestinal hypomotility w/o obstruction -> constipation, dec. flatus, distended/typmanic w/ dec. bowel sounds
asso. w/ ab surgeries, opiates, hypokalemia and sepsis
123
Ischemic Colitis
reduction of intestinal blood flow esp. at splenic flexure
| pain after eating -> weight loss
124
Meconium Ileus
in CF
| meconium plug obstruct intestine prevent stool passage at birth
125
Necrotizing Enterocolitis
necrosis of intestinal mucosa w/ possible perforation
| common in preemies
126
Juvenile Polyposis Syndrome
multiple juveile polyps in children <5y/o
inc. risk of adenocarcinoma
single polyp is not malignant
127
Peutz-Jeghers Syndrome
AD multiple nonmalignant hamartomas throughout the GI tract
hyperpigmented mouth, lips, hands, genitalia
inc. risk of CRC and other visceral malignancies
128
Gardner Syndrome
FAP + osseous and soft tissue tumors, congenital hypertrophy of retinal epithelium
129
Turcot Syndrome
FAP + malignant CNS tumor
130
Lynch Syndrome
HNPCC, AD mut in DNA mismatch repair gene
| 80% progress to CRC, proximal colon MC involved
131
Familial Adenomatous Polyposis (FAP)
AD mut in APC (Chr. 5q) -> multiple polyps 100% progress to CRC
132
Reye Syndrome
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
Cavernous Hemangioma
common, benign liver tumor
common 30-50 y/o
biopsy contra due to bleeding
134
Hepatic Adenoma
Hepatoma
rare, benign liver tumor related to OCP or anabolic steroids
regress spontaneously or rupture
135
Angiosarcoma of Liver
malignant tumore endothelial origins
| related to arsenic or vinyl chloride exposure
136
Budd-Chiari Syndrome
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
Gilbert Syndrome
mild dec. in UDP-glucuronosyltransferase conjugation
asymptomatic jaundice w/ elevated unconjugated/indirect bilirubin w/o over hemolysis
inc. with stress/alcohol and fasting
138
Crigler-Najjar Syndrome, type 1
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
Crigler-Najjar Syndrome, type 2
milder version of type 1
responds to Phenobarbital
induces Cyp2B6 to inc. metabolism
140
Dubin-Johnson Syndrome
defective liver excreting of conjugated bilirubin
| elevated conjugated bilirubin, Black liver, benign
141
Rotor Syndrome
similar to Dubin-Johnson but mild and no black liver
142
Wilson Disease
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
Hemochromatosis
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
Secondary Biliary Cirrhosis
extrahepatic biliary obstruction
pruritus, jaundice, dark urine, light stools, hepatosplenomegaly
inc. conjugated bilirubin, cholesterol, ALP
complicated by ascending cholangitis
145
Primary Biliary Cirrhosis
AI lymphocytic infiltrate + granulomas
distruction of intralobular bile ducts
inc. anti-mitochondrial antibodies
asso. with other AI conditions
146
Primary Sclerosis Choangitis
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
Porcelain Gallbladder
calcified gallbladder due to chronic cholecystitis
| prophylactic cholecystectomy due to high rates of gallbladder carcinoma
148
Trousseau Syndrome
migratory thrombophlebitis w/ redness and tenderness on palpation of extremities
asso. w/ pancreatic adenocarcinoma
149
Courvoisier Sign
obstructive jaundice w/ palpable non-tender gallbladder
| asso. w/ pancreatic adenocarcinoma
150
alpha-Thalassemia
```
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
beta-Thalassemia
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
Lead Poisoning
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
Sideroblastic Anemia
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
Folate Deficiency
hypersegmented neutrophils, glossitis, inc. homocysteine, norm methylmalonic acid
NO neurological symptoms
155
B12 (cobalamin) Deficiency
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
Orotic Aciduria
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
Hereditary Sperocytosis
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
Pyruvate Kinase Deficiency
AR dec. ATP, rigid RBC
| hemolytic anemia in newborn
159
Paroxysmal Nocturnal Hemoglobinuria
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
Acute Intermittent Porphyria
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
Porphyria Cutanea Tarda
defect uroporphyrinogen decarboxylase
accumulate uroporphyrin
blistering cutaneous photosensitivity
162
Bernard-Soulier Syndrome
defect platelet plug formation
dec. GpIb -> defect platelet-vWF binding
dec platelet count, inc. bleeding time
163
Glanzmann Thrombasthenia
defect platelet plug formation
dec. GpIIb/IIIa -> defect platelet-platelet aggregation
smear show no platelet clumping
164
Immune Thrombocytopenia
anti-GpIIb/IIIa antibodies -> splenic macrophage consumption
may be triggered by viral infection
inc in megakaryocytes
165
Thrombotic Thrombocytopenic Purpura
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
von Willebrand Disease
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
Factor V Leiden
mut factor V resistant to degradation by protein C
| MC inherited hypercoagulability in caucasians
168
Protein C or S Deficiency
dec ability to inactivate factor V and VIII -> skin necrosis w/ hemorrhage following warfarin
169
Burkitt Lymphoma
```
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
Diffuse Large B Cell Lymphoma
MC non-Hodgkins in older adults, 20% in children
| t(14;18)
171
Mantle Cell Lymphoma
older males
t(11;14) cyclinD1;Igheavy
CD5+
172
Follicular Lymphoma
adults
t(14;18) Igheavy;bcl-2
indolent course, painless waxing and waning lymphadenopathy
173
Adult T Cell Lymphoma
HTLV-1 (asso. w/ IV drug abuse)
| cutaneous lesions, lytic bone lesions, hypercalcemia
174
Mycosis Fungoides
Indolent, CD4+
cutaneous patches/plaques/tumors w/ potential to spread to lymph nodes
Sezary: circulating malignant version
175
Multiple Myeloma
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
Waldenstrom Macroglobulinemia
M spike = IgM -> hyperviscosity symptoms
| No lytic bone lesion
177
Monocolonal Gammopathy of Undetermined Significance (MGUS)
monocolonal <10%
| asymptomatic precursor for multiple myeloma (1-2%/yr)
178
Myelodysplastic Syndrome
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
Pseudo-Pelger-Huet Anomaly
bilobed neutrophil typically seen after chemotherapy
180
Hairy Cell Leukemia
adult, mature B cell, filamentous hair-like projections
TRAP + stain -> marrow fibrosis (dry tap on aspiration)
Tx: clabribine (adenosine analogue)
181
Langerhans Cell Histocytosis
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
Polycythemia vera
Hct>55%, mut. in JAK2, intense itchy after shower
| erythromelagia (severe, burning pain and reddish/bluish) due to episodic clot of extremities
183
Heparin Induced Thrombocytopenia
IgG antibodies against heparin bound to platelet factor 4 (PF4) -> complex activates platelets -> thrombocytopenia
184
Achondroplasia
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
Osteopetrosis
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
Osteomalacia/Ricketts
Vit D def. -> defective mineralization/calcification of osteoid
soft, bow out bone, dec. Ca, inc. PTH, dec Phos
hyperactive osteoclast -> inc. ALP
187
Paget Disease of Bone
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
Osteitis Fibrosa Cystica
"brown tumor" due to fibrous replacement of bone
| subperiosteal thinning
189
Giant Cell Tumor (bone)
20-40y/o, epiphyseal, soap-bubble on x-ray, locally aggressive, multinucleated giant cells
190
Osteochondroma
males <25y/o, MC benign
| mature bone w/ cartilaginous cap, rarely transforms
191
Osteosarcoma
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
Ewing Sarcoma
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
Chondrosarcoma
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
Psoriatic Arthritis
asymmetric, pain/stiffness w/ psoriasis (<1/3), dactylitis (sausage fingers), pencil-in-cup
195
Ankylosing Spondylitis
chronic inflam of spine/sacroiliac joint, bamboo spine
| ankylosis: stiff spine due to fusion, uveitis, aortic regurg
196
Reactive Arthritis
Reiter Syndrome
conjunctivitis (anterior uveitis), urethritis, arthritis
can't see, pee, climb a tree
Post-GI: shigella, salmonella, yersinia, campylobacter, or chlamydia
197
Sarcoidosis
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
Polymyalgia Rheumatica
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
Polymyositis
progressive, symmetrical proximal muscle weakness
endomysial inflammation w/ CD8 cells, esp. shoulder
inc. CK. + ANA, anti-Jo-1, anti-SRP, anti-Mi-2
200
Dermatomyositis
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
Myasthenia Gravis
Ab to postsynaptic ACh receptor
ptosis, diplopia, weakness, worsen w/ use
thymoma, thymic hyperplasia
diagnose w/ AChE inhibitor
202
Lambert-Eaton
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
Myositis Ossificans
metaplasia skeletal muscle -> bone following trauma
| suspicious mass at site of known trauma
204
Diffuse Scleroderma
widespread excessive skin fibrosis, rapidly progressive, early visceral involvement (renal, pulmonary, CV, GI)
anti-Scl-70 antibodies (anti-DNA TopoI)
205
CREST Syndrome
limited sclerodermal to the skin, more benign
calcinosis, raynaud, esophageal dysmotility, sclerodactyly, telangiectasia
anti-centromere antibodies
206
Melasma
chloasma
| hyperpigmentation asso. w/ pregnancy and OCP
207
Vitiligo
irregular hypopigmenation due to AI destruction of melanocytes
208
Ephelis
freckles, normal number put increase pigment
209
Seborrheic Keratosis
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
Hairy Leukoplakia
white painless plaque on tongue, cannot scrap off
| EBV mediated in HIV patients
211
Pemphigus Vulgaris
IgG to desmoglein (in desmosome) -> flaccid intraepidermal bullae (in spinosum layer)
potentially fatal, Nikolsky sign +
reticular like IF image
212
Bullous Pemphigoid
IgG to hemidesmosomes, tense blisters, spare mucosa
less severe, Nikolsky sign -
linear If at epidermal-dermal junction
213
Dermatitis Herpetiformis
pruritic patules, vesicles, bullae often on elbows
asso. w/ celiac
deposit IgA at tips of dermal papillae
214
Erythema Multiforme
asso. w/ infection, drugs, cancer, and AI
| multiple macules, papules, vesicles, and target leisons
215
Actinic Keratosis
premalignant due to sun exposure -> squamous cell carcinoma
| small, rough, erythematous/brownish papules or plaques
216
Erythema Nodosum
painful inflam of subQ fat, usually anterior shins
| idiopathic, asso w/ sarcoidosis, coccidioidomycosis, histoplasmosis, TB, strep infection, leprosy, and Crohns
217
Lichen Planus
pruritic, purple, polygonal, planar, papules
sawtooth lymphocytic infiltrate at dermal-epidermal junction
asso. w/ HCV
218
Pityriasis Rosea
herald patch followed by christmas tree distribution
multiple with collarette scale
self-resolving in 6-8 wks
219
Sringomyelia
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
Parkinson
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
Huntington
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
Hemibalismus
sudden, wild flailing of 1 arm +/- ipsi leg
| X contralat subthalamic nucleus (i.e. lacunar stroke)
223
Chorea
sudden, jerky, purposeless movement
| X basal ganglia (i.e. huntington)
224
Athetosis
slow, writhing movements, esp. fingers
X basal ganglia
snake-like writhing movement
225
Myoclonus
sudden, brief, uncontrolled muscle contraction
| jerks, hiccups, common in metabolic abnormalities (i.e. renal and liver failure)
226
Dystonia
sustained, involuntary muscle contractions
| writer's cramp; blepharospasm (eye twitch)
227
Essential Tremor
action tremor: exacerbated by holding limb
genetic predisposition
self-medicate w/ EtOH (dec amplitude)
Tx: beta block, primidone
228
Resting Tremor
uncontrolled movement of distal appendages (i.e. parkinson)
alleviated by intentional movement
pill rolling tremor
229
Intentional Tremor
slow, zigzag motion when pointing/extending toward a target
| cerebellar dysfunction
230
Kluver-Bucy Syndrome
X amygdala
| hyperorality, hypersexuality, disinhibited behavior
231
Spatial Neglect Syndrome
X R parietal-temporal cortex
232
Gerstmann Syndrome
X L parietal-temporal cortex
| agraphia, acalculia, finger agnosia, and L-R disorientation
233
Wernicke-Korsakoff Syndrome
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
Medial Medullary Syndrome
infarct paramedian branches of ASA/vertebral arteries
contra hemiparesis, dec proprioception
ipsi hypoglossal dysfunction
235
Lateral Medullary (Wallenberg) Syndrome
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
Lateral Pontine Syndrome
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
Ischemic Brain Histology
red neuron -> necrosis + neutrophils -> macrophages -> reactive gliosis + vascular proliferation -> glial scar
238
Spinal Muscular Atrophy (Werdnig-Hoffmann)
AR congenital degeneration of anterior horn -> LMN lesion
floppy baby w/ hypotonia, tongue fasciculations
median age death of 7mo
239
Friedreich Ataxia
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
Parinaud Syndrome
paralysis of conjugate vertical gaze due to lesion of superior colliculi
241
Cavernous Sinus Syndrome
X cavernous sinus due to mass effect, fistula, thrombosis
ophthalmoplegia, dec corneal/maxillary sensation w/ normal visual acuity
CN VI commonly affected
242
Acute Closure Glaucoma
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
Cataract
age, smoking, EtOH, excessive sunlight, prolong corticosteroid, classic galactosemia, galactokinase deficiency, diabetes, trauma, infection
244
Marcus Gunn Pupil
afferent pupillary defect
245
Alzheimer Disease
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
Pick Disease
frontotemporal atrophy
dementia, aphasia, parkinsonian, change in personality
spare parietal lobe and posterior 2/3 of temporal gyrus
pick bodies: spherical tau
247
Lewy Body Dementia
dementia/visual hallucination -> parkinsonian feature
| alpha-synuclein defect
248
Guillain-Barre
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
Progressive-Multifocal Leukoencephalopathy
demyelinating of oligodendrocyte, asso w/ JC virus and AIDs
| rapidly progressive, usually fatal
250
Metachromatic Leukodystrophy
AR lysosomal storage disease due to arylsulfatase A deficiency -> build up sulfatides -> impaired production
centra/peripheral demyelination w/ ataxia, dementia
251
Charcot-Marie-Tooth Disease
AD progressive hereditary motor/sensory neuropathy
defective production of protein in myelin
w/ scoliosis and foot deformities (high or flat arches)
252
Adrenoleukodystrophy
XLR disrupt very-long chain fatty acid -> buildup nervous system, adrenal gland, and testes
long-term coma/death and adrenal gland crisis
253
Sturge-Weber Syndrome
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
von Recklinhausen Disease
NF1 (Chr. 17) from neural crest
| cafe-au-lait spots, Lisch nodules, neurofibromas in skin, optic gliomas, pheochromocytomas
255
von Hippel-Lindau Disease
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
Neuroleptic Malignant Syndrome
rigidity, myoglobinuria, autonomic instability, hyperpyrexia
| Tx: dantrolene, D2 agonist
257
Tardive Dyskinesia
stereotypic oral-facial movement w/ long-term antipsychotic
| irreversible
258
Hartnup Disease
AR def. neutral amino acid transport in PCT and enterocyte
pellega-like symptoms
treat w/ high protein and nicotinic acid
259
Fanconi Syndrome
PCT reabsorptive defect, everything slip through
metabolic acidosis
caused by inherited, ischemia, nephrotoxins
260
Bartter Syndrome
thick ascending loop reabsorptive defect
AR affect N/K/2Cl transporter
hypokalemia, metabolic alkalosis w/ hypercalciuria
261
Gitelmann Syndrome
DCT reabsorptive defect
AR affect NaCl transporter
hypokalemia, metabolic acidosis w/o hypercalciuria
262
Liddle Syndrome
AD inc Na reabsorption in DCT and CD
hypertension, hypokalemia, metabolic alkalosis, dec. aldo
Tx: amiloride
263
Type 1 RTA
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
Type 2 RTA
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
Type 4 RTA
anything causing hyperkalemia -> impair ammoniagenesis -> buffering capacity and dec H+ excretion (pH<5.5)
hypoaldo, aldo resistance, K-sparing diuretics
266
Renal Oncocytoma
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
Wilms Tumor
nephroblastoma
early childhood w/ embryonic glomerular structures
huge palpable flank mass +/- hematuria
268
Beckwith-Wiedemann Syndrome
Wilms tumor, aniridia, genitourinary malformation, mental retardation
269
ARPKD
AR infantile form
| Asso w/ congenital hepatic fibrosis, Potter Sequence
270
ADPKD
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
Medullary Cystic Disease
inherited causing tubulointersitial fibrosis and progressive renal failure w/ inability to concentrate
shrunken kidney, poor prognosis
272
Treacher Collins Syndrome
1st arch neural crest fail to migrate -> mandibular hypoplasia, facial abnormalities
273
Congential Pharyngocutaneous Fistula
persistent of a cleft (external) and pouch (internal) -> fistula b/w tonsillar area and lateral neck
274
Klinefelter Syndrome
Male XXY
| testicular atrophy, eunuchoid body shape, long extremities, gynecomastia, female hair distribution, developmental delay
275
Turner Syndrome
Female XO
short stature, ovarian dysgenesis (streak ovary), shield chest, bicuspid aortic valve, preductal coarctation, webbed neck, cystic hygroma, lymphedema, horseshoe kidney
276
Aromatase Deficiency
inability to synthesize estrogens
masculinization of female, ambiguous genitalia, inc. serum testosterone/androstenedione
present and maternal virilization during pregancy
277
Androgen Insensitivity Syndrome
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
5alpha-reductase deficiency
AR ambiguous genitalia until puberty when inc testosterone causes quick masculinization
normal internal genitalia
279
Kallmann Syndrome
defect migration of GnRH cells and formation of olfactory bulb
weird combo of no puberty + can't smell
280
Brenner Tumor
looks like bladder
| solid pale yellow appears encapsulated
281
Krukenberg Tumor
GI malignancy Met to ovary, muscin-secreting signet cell adenocarcinoma
282
Asbestosis
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
Coal Workers' Pneumoconiosis
macrophages ladened w/ carbon -> inflam and fibrosis
| affects upper lobes
284
Silicosis
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
