Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Step One Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Abd pain, ascites, hepatosplenomegaly

A

Budd-Chiari Syndrome
“Budd-Chiari Blocks Cavae”
Occlusion of IVC or hepatic veins

Predisposing conditions:
PNH, Polycythemia vera, Hepatocellular carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (AD decreased/absent LDL receptor signaling)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Frederichsen Syndrome (meningococcemia from Neisseria meningitis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints, tall & thin habitus

A

Marfan’s Syndrome (fibrillin defect)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Back pain

Fever, night sweats, weight loss

A

Pott’s Disease
Tuberculosis in the spine
Back pain + B symptoms (may also look like leukemia/lymphoma, multiple myeloma, or other cancers)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)
Black females, elevated serum ACE, hypercalcemia due to elevated 1alpha-hydroxylase mediated VitD activation in epithelioid macrophages

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Bluish line on gingiva

A

Burton’s line (lead poisoning)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Bone pain, bone enlargement, arthritis, increased hat size, hearing loss

A

Paget’s disease of bone
(increased activity of both osteoclasts and -blasts)
Serum Ca, Phos, PTH normal
High ALP
mosaic bone pattern, long chalk-stick fractures, arteriovenous shunts may cause high output heart failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

A

Neurofibromatosis type I (+pheochromocytoma, optic nerve gliomas), Skeletal d/o (scoliosis)
von Recklinghausen

AD
Chr 17

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune-Albright syndrome (mosaic G-protein signaling mutation such that you have low cAMP signaling)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

“Cherry-red spot” on macula

A

1) Tay-Sachs (ganglioside accumulation)
2) Niemann-Pick (sphingomyelin accumulation)
3) central retinal artery occlusion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Chest pain, pericardia effusion/friction rub, persistent fever post MI

A

Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wks post acute MI)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Child with fever later develops red rash on face that spreads to body

A

“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease (AD trinucleotide CAG repeat expansion)

Chr. 4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle’s disease (AR: muscle glycogen phosphorylase deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Continuous “machine-like” murmur

A

PDA (close with indomethacin, open/maintian with misoprostol)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Cutaneous/dermal edema from connective tissue deposition

A

Myxedema (hypothyroidism (facial/periorbital), or Graves’ disease [pretibial])

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Dermatitis, dementia, diarrhea, death

A

Pellagra (niacin [vit B3] deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vit B1] deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Dog or Cat bite resulting in infection

A 
Pasteurella multocida (cellulitis at inoculation site)
Bartonella hensleae
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands: lymphocytic infiltrate)
Females 40-60, assoc. c RA
Parotid enlargement, risk of B cell lymphoma, dental caries
anti-SS-A (Ro), SS-B (La)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

Vinson the Plumber is too weak to work, can’t lift his heavy iron wrenches (iron def. anemia), he can’t swallow because his big tongue and esophageal webs.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Erythroderma, lymphadenopathy, HSM, atypical T cells

A

1) Mycosis fungoides (cutaneous T cell lymphoma)

2) Sezary syndrome (leukemic form of MF)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Fat, female, forty, fertile, (and family history)

A

Cholelithiasis (gallstones)

Increased Estrogen stimulates HMG-CoA to increase Cholesterol synthesis, and increased progesterone decreases gall bladder motility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Fever, cough, conjunctivitis, coryza (stuffy nose), diffuse rash

A

Measles (Paramyxoviridae - > morbillivirus)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Gout, mental retardation, self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

Lesch Nyhan eat My Hand

HGPRT = Hypoxanthine-guanine phosphoribosyltransferase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson’s disease)

Copper in liver, brain, cornea, kidneys, joints
Low Ceruloplasm, cirrhosis, hepatocellular carcinoma

Copper is Hella BAD
Hemolytic anemia, Basal ganglia degen (parkinsons), Asterixis, Dementia, Dyskinesia, Dysarthria

Chr. 13
Rx penicillamine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; elevated cancer risk, esp GI)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A 
Alport syndrome (mutation of alpha chain of collagen IV)
XR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilat amygdala lesion)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Hypoxemia, polycythemia, hypercapnia

A

“Blue bloater” (Chronic bronchitis: hyperplasia of mucous cells)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphilis, treponema pallidum)

Painful c exudate: chancroid (Haemophilus ducreyi)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Infant with cleft lip/palate, microcephaly, or holoprosencephaly, polydactyly, cutis aplasia (absence of skin)

A

Patau’s syndrome (trisomy 13)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Infant with failure to thrive, HSM, neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase def)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Infant with hypoglycemia, failure to thrive, and HSM

A

Cori’s disease (debranching enzyme def)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect

A

Edwards syndrome (trisomy 18)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s sign (distal obstruction of biliary tree)

Painless jaundice is pancreatic cancer until proven otherwise

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinemia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann’s thrombasthenia (defect in platelet aggregation due to lack of Gp2b/3a)
if prolonged PTT consider von Willebrand’s disease, which also has normal platelets and increased bleeding time, with a normal to increased PTT
VWD is most common inherited bleeding disorder, AD (so look for inheritance pattern), diagnosed by ristocetin cofactor assay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

A

Gardner’s syndrome (subtype of Familial adenomatous polyposis (FAP))

Multiple teeth like an herbivore –> eats plants –> GARDENER
Multiple teeth ~~ Multiple polyps

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Myopathy, infantile hypertrophic cardiomyopathy, exercise intolerance

A

Pompe’s disease (lysosomal alpha-1,4-glucosidase deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Painful raised red lesions on pad of fingers/toes

A

Osler’s node (infective endocarditis, immune complex dep)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Kidney stones, stomach ulcer (epigastric pain etc)

A

MEN 1 (autosomal dominant)
Pancreatic tumor: ZE syndrome, insulinomas, VIPomas
Parathyroid tumors: hypercalcemia
Pituitary tumor: PRL or GH

Menin mutation
(diamond)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Pruritic, purple, polygonal planar papules and plaques (6Ps)

A

Lichen planus - assoc. with Hep C

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Rash on palms and soles

A

1) Coxsackie A
2) Secondary Syphilis
3) Rocky Mountain spotted fever

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

Recurrent colds, unusual eczema, high serum IgE

A

Hyper-IgE syndrome, aka Job’s syndrome (neutrophil chemotaxis abnormality)

FATED: coarse Facies, cold staph Abscesses, retained primary Teeth, high IgE, Derm problems

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Red “currant jelly” sputum in alcoholic or diabetic pt

A

Klebsiella pneumoniae

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Red “currant jelly” stools

A

1) Acute mesenteric ischemia (adults)

2) intussusception (infant)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

Red, itchy swollen rash of nipple/areola

A

Paget’s disease of the breast (underlying DCIS neoplasm)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lendau disease (dominant tumor suppressor gene mutation)

VHL gene on Chr. 3

63
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

64
Q

Severe jaundice in neonate

A

Criggler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Def. UDP-glucuronyl transferase

kernicterus (bilirubin in brain)
Rx: plasmapharesis, phototherapy

65
Q

Short stature, Increased incidence of tumors/leukemia, aplastic anemia

A

Fanconi’s anemia (genetic loss of DNA crosslink repair; often progresses to AML)

66
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

sounds like Cartographers syndrome - Map makers think they know the world but they have it all inverted and they just stay inside because they are always sick and they don’t have girlfriends

67
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addison’s disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production)

68
Q

Slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy (X-linked missense mutation in dystrophin; less severe thean Duchenne’s)

69
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (secondary syphilis)

70
Q

“Strawberry tongue”

A

1) Scarlet fever
2) Kawasaki’s disease
3) Toxic shock syndrome

71
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

72
Q

Swollen gums, mucosal bleeding, poor wound healing, spots on skin

A

Scurvy (vit C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

73
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (osteophytes on PIP [Bouchard’s nodes], DIP [Heberden’s nodes])

74
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN2A (autosomal dominant ret mutation)

Medullary thyroid carcinoma (calcitonin)

75
Q

Thyroid rumors, pheo, ganglioneuromatosis (oral tumors)

A

MEN2B (autosomal dominant ret mutation)

Medullary thyroid carcinoma (calcitonin)

Marfanoid habitus

76
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reiters syndrome: reactive arthritis associated with HLA-B27

77
Q

Vascular birthmark (port-wine stain)

A

Hemangioma (benign, but associated with Sturge-Weber syndrome)

Sturge-Weber - affects small vessels
Port wine stain, seizures, glaucoma, AV malformation

78
Q

Older man with weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipples disease (Tropheryma whipplei)

Also cardiac and neurologic symptoms

PAS positive staining foamy macrophages (periodic acid-schiff, stains for mucopolysaccharides [PASs the sugar])

79
Q

mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor

A

Phenylketonuria
AR
lack of Phenylalanine hydroxylase or tetrahydrobiopterin cofactor

80
Q

Arthralgias, brown sclera, urine turns black when exposed to air

A

Alkaptonuria
AR
homgentisic acid oxidase deficiency (degradation path of tyrosine to fumarate –> TCA cycle)

81
Q

mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis, very high urine homocysteine

A

homocystinuria

cystathionine synthase deficiency
homocysteine methyl transferase deficiency
low affinity for B6

82
Q

Cystine in urine

A

cystinuria
AR
defect in transporter for cysteine, ornithine, lysine and arginine

83
Q

Baby, Severe mental retardation, urine smells like maple syrup, high blood ketones

A

Maple Syrup Urine Disease
blocked degradation of branched amino acids
Ile, Leu, Val
I Love Vermont maple syrup from maple tree branches

84
Q

Dermatitis, Diarrhea, Dementia, high neutral amino acids in urine

A

Hartnup disease

tryptophan excretion leads to low niacin, hence pellagra

85
Q

baby severe fasting hypoglycemia, very high glycogen in liver, high blood lactate, hepatomegaly

A

Von Gierke’s

Glucose 6 phosphatase deficiency

86
Q

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular and renal disease

A 
Fabry's
XR
Clumsy hands break the ceramic Fabrychey(sp?) egg
a-galactosidase A def.
Ceramide accum.
87
Q

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

A

Krabbe’s

Galactocerebroside

88
Q

Central and peripheral demyelination with ataxia, dementia

A

Metachromatic leukodystrophy

Arylsulfatase A

89
Q

Weakness, hypotonia, hypoketotic hypoglycemia

A

Carnitine deficiency

Can’t get LCFAs into mitochondria because of Acyl CoA DH def. –> No TCA, No Ketones

90
Q

Increased orotic acid in urine, megaloblastic anemia that does not improve with B12, failure to thrive, no hyperammonemia

A

Orotic Aciduria

defect UMP synthase, no pyrimidine synthesis

91
Q

High orotic acid in urine, low BUN, sings of hyperammonemia (asterixis, confusion)

A

OTC deficiency
X linked
Urea cycle disorder –> high ammonia
Carbamoyl Phosphate accumulates and shunts to the production of orotic acid.

92
Q

Telangiectasia, recurrent epistaxis, skin discolorations, AVMs

A

Hereditary hemorrhagic telangiectasia
aka
Osler-Weber-Rendu Syndrome
AD

93
Q

Bilateral acoustic schwannomas, juvenile cateracts

A

Neurofibromatosis type 2
Chr 22
AD

94
Q

Facial lesions, hypopigmented ash leaf spots, hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas, risk of astrocytomas

A

Tuberous Sclerosis

95
Q

Macroorchidism, long face, large jaw, large everted ears, autism, mitral valve prolapse

A

Fragile X syndrome
X linked, Tri nucleotide repeat: CGG
methylation and expression of FMR1 gene

96
Q

microcephaly, mental retardation, high pitched crying, epicanthal folds, cardiac abnormality

A

Cri-du-chat syndrome
has VSD
microdel of Chr5

97
Q

Elfin facies, intellectual disability, hyper calcemia, well developed verbal skills, extreme friendliness, cardiovascular problems

A

Williams syndrome
Del Chr7

William has 7 letters

98
Q

Confusion, ataxia, ophthalmoplegia, confabulations, memory loss, personality chagnes

A

Wernicke-Korsakoff Syndrome
B1 deficiency, impaired glucose breakdown, low ATP
memory loss is permanent
damage to medial dorsal nucleus of thalamus and mammillary bodies

99
Q

hypoglycemia, jaundice, cirrhosis, vomiting

A

Fructose intolerance
def. Aldolase B
F1P accumulates, decreasing available phosphate

100
Q

Failure to thrive, jaundice, Hepatomegaly, infantile cataracts, mental retardation

A 
Classic galactosemia
def Galactose-1-phosphate uridyltransferase
101
Q

Severe, recurrent pyogenic sinus and respiratory tract infections

A

C3 deficiency

102
Q

Recurrent Neisseria bacteremia

A

C5-C9 deficiency

103
Q

Sinopulmonary infections acquired in 20s-30s, lymphoma

A

CVID
Common variable immunodeficiency
Normal # B cells, low plasma cells and immunoglobulins

104
Q

Disseminated mycobacterial infections

A

IL-12 receptor deficiency

low Th1 response, low IFNg

105
Q

Ataxia, telangiectasia, IgA deficiency (sinus infections)

A

Ataxia-telangiectasia

Defect in ATM gene, codes for DNA repair

106
Q

Thrombocytopenic purpura, recurrent infections, Eczema

A

Wiskott-Aldrich
X linked
WAS gene on Chr X
High IgE and IgA, low IgM

WASps wear TIEs

107
Q

Recurrent infections, no pus, delayed separation of umbilical cord

A

Leukocyte Adhesion Deficiency
defect in integrin (CD18)
Neutrophilia

108
Q

Maculopapular rash, jaundice, HSM, diarrhea

A

Grave-versus-host

Graft T cells react against host

109
Q

Cirrhosis, diabetes mellitus, skin pigmentation

A

Hemochromatosis
AR
Can Cause Deposits - CHF, Cirrhosis, Diabetes
risk of hepatocellular carcinoma

mutation on HFE gene
assoc. with HLA-A3

110
Q

Diarrhea, flushing, asthmatic wheezing, right sided valve disease

A

Carcinoid Syndrome
Neuroendocrine cells of small bowel (most common tumor of the appendix)
Secretes 5HT, symptoms only if metastasized (first pass metabolism)
Increased 5HIAA in urine
Rx: somatostatin analog (octreotide)

Rule of 1/3’s: 1/3 metastasize, 1/3 present with 2nd malignancy, 1/3 multiple

111
Q

Elderly female, unilateral headache, jaw pain

A

Temporal (Giant Cell) arteritis
Branches of carotid arteries
Focal granulomatous inflammation

(Large-Vessel)

112
Q

Asian female, fever, nightsweats, arthritis, myalgia, ocular disturbances, weak upper extremity pulses

A

“Pulseless disease”
Takayasu’s arteritis
Granulomatous thickening of aortic arch, proximal great vessels

(Large-vessel)

113
Q

Young adult, Fever, weight loss, malaise, headache, abd pain, melena, hypertension, cutaneous eruptions, proteinuria/oliguria

A

PAN - Polyarteritis Nodosa
Beads on a string aneurysms of renal and viseral vessels NOT PULMONARY ARTERIES
Immune-complex, transmural with fibrinoid necrosis

Think of Pan, the Satyr, feeling miserable with fever and malaise, and headache and belly ache, laying in the tree branches. His hair legs remind us of cutaneous eruptions and melena. He plays the Pan Flute because his pulmonary arteries are not affected. And his beaded necklace reminds us of the beads on a string, immune complex deposition pathology

(medium-vessel)

114
Q

Asian child, fever, cervical lymphadenitis, strawberry tongue, hand and foot erythema, rash

A

Kawasaki’s disease

Coronary Aneurysms –> MI, rupture
Rx: ASA and IVIG

(medium-vessel)

115
Q

chronic sinusitis and otitis media, perforated nasal septum, hemoptysis, cough, shortness of breath, hematuria

A

Wegener’s granulomatosis

Triad:
Focal necrotizing vasulitis
Necrotizing granulomas in lung
Necrotizing glomerulonephritis

c-ANCA
Rx: cyclophosphamide,

(small-vessel)

116
Q

Asthma, sinusitis, palpable purpura, wrist or foot drop

A

Churg-Strauss

p-ANCA, high IgE
Granulomatous, necrotizing, eosinophilia vasculitis

May involve heart, kidneys, GI (eosinophilic gastroenteritis)

117
Q

Episodic head ache, sweating, palpitaions

A

Pheochromocytoma
Adrenal medulla tumor of chromaffin cells (neural crest), secrete NE, E, D
Urinary VMA

5Ps: Pressure, Pain, Perspiration, Palpitations, Pallor
Rule of 10s: 10% malignant, 10% billateral, 10%, extra adrenal, 10% calcify, 10% kids

118
Q

Bone pain, cystic bone spaces with brown fibrous tissue

A

Osteitis fibrosa cystica

Hyperparathyroidism

119
Q

Infant failure to thrive, steatorrhea, neuro deficits

A

Abetalipoproteinemia

Can’t make chylomicrons, fat accumulates in enterocytes

120
Q

High total and direct bili

A

Dubin-Johnson Syndrome
Grossly black liver
problem with excretion of conjugated bilirubin into bile

121
Q

Confusion, cramping abdominal pain, purple lines on gums

A

Lead pisoning, inh ferrochelatase and ALA DH, decrease heme synthesis
Sideroblastic anemia, wrist and foot drops

Rx: dimercaprol, succimer for kids

122
Q

hemolytic anemia in newborn

A

Pyruvate kinase deficiency

123
Q

Fatigue, anemia, jaundice, low haptoglobin, dark urine, pancytopenia, venous thrombosis

A

Paraxoysmal nocturnal hemoglobinuria

Hemolytic anemia

complement mediated lysis, named for when low O2 levels at night caused hemolysis and dark urine in the morning, need not present that way.

impaired synthesis of GPI anchor or decay-accelerating factor that protect RBCs from complement

124
Q

Abdominal pain, polyneuropathy, red urine, psychological disturbances

A

Acute intermittent porphyria
Def Porphobilinogen deaminase, increased dALA
Rx: glucose and heme

125
Q

Blisters, photosensitivity

A 
And a thirst for bloooood!
Porphyria cutanea tarda
Def Uroporphyrinogen decarb
acumulages uroporphyrin (tea colored urine)
Most common porphyria
126
Q

Hemarthrosis, easy bruising, elevated PTT

A

Hemophilia A or B

127
Q

epistaxis, petechiae, increased bleeding time, low platelet count

A

Bernard-Soulier, ITP, or TTP

BS: low GpIb, platelets can’t bind vWF
ITP: anti GpIIb/IIIa antibodies, spleen eats (increased megakaryocytes)
TTP: def. ADAMTS13 for degrading vWF multimer (use up all the platelets)

128
Q

neurologic and renal symptoms, fever, thrombocytopenia, microangiopathic hemolytic anemia

A

TTP

129
Q

epistaxis, petechiae, increased bleeding time, normal platelet count

A

Bernard-Soulier or vWF

vWF has increased PTT because of loss of factor VIII

130
Q

Difficulty swallowing, fingers turn white in cold, spider angiomas

A

CREST syndrome
Calcinosis, Raynaud’s, Esophageal dysmotility, Sclerodactyly, Telangiectasia

Anti-Centromere antibodies

131
Q

Puffy and taut skin, absence of wrinkles, widespread involvement

A

Scleroderma
sclerosis also involves renal, pulmonary, cardiovascular and GI systems (pulmonary sclerosis most likely cause of death)

scl-70 antibody (anti-DNA topoisomerase I)

132
Q

Multiple crusty and weepy erythematous erosions, flaccid blisters, separation of epidermis upon manual stroking of skin

A

Pemphigus vulgaris
Intraepidermal bullae
IgG ab vs desmoglein 3 of the desmosomes
potentially fatal autoimmune

reticular or net-like immunofluorescence

133
Q

Tense blisters, sparing the oral mucosa

A

Bullous pemphigoid
IgG vs hemidesmosomes (epidermal basement membrane.
Linear immunoflurescence
eosinophils in tense blisters

134
Q

Fever, blisters, skin necrosis and sloughing

A

Stevens-Johnson syndrome
high mortality
if >30% surface area = Toxic Epidermal Necrolysis

135
Q

Loss of pain and temperature sensation in the upper extremities with fine touch preserved

A

Syringomyelia
Often “cape-like” distribution
cystic enlargement in C8-T1

Pt commonly has burns on hands that they don’t feel.

136
Q

Bladder incontinence, staggering unsteady gait, confusion

A

Normal pressure hydrocephalus
urinary incontinence, ataxia, cognitive dysfunction (sometimes reversible)

Wet, wobbly, wacky

137
Q

Hyperreflexia, hypertonia, flaccid paralysis, fasciculations, atrophy

A

Amyotrophic lateral sclerosis
Combined UMN/LMN

Sensory INTACT, as is cognitive and oculomotor

138
Q

Floppy baby with marked hypotonia and tongue fasciculations

A

Werdnig-Hoffman Dz

Congenital degeneration of Anterior horns –> LMN lesion

139
Q

Staggering gait, frequent falls, nystamus, dysarthria, pes cavus, hammer toes, hypertrophic cardiomyopathy, kyphoscoliosis in childhood

A

Friederich Ataxia
AR, trinuc: GAA that encodes Frataxin
impaired mitochondrial fxn

140
Q

Double vision, difficultly moving eyes, decreased corneal sensation, decreased sensation on upper lip

A

Cavernous Sinus Syndrome

mass effect, fistula etc in cavernous sinus compressing CNs III, IV, V1, V2, IV

141
Q

Elderly African American with progressive loss of peripheral vision

A

Open Angle glaucoma
Optic disc atrophy with cupping
decreased outflow at trabecular meshwork

142
Q

Very painful, sudden vision loss, halos around lights, with frontal headache

A

Acute Narrow Angle Closure Glaucoma
Rock hard eye
True emergency
DO NOT GIVE EPI

143
Q

Dementia, aphasia, personality changes, parkinsonian aspects

A

Pick’s disease
Frontotemporal dementia
Pick bodies: spherical tau protein aggregates

144
Q

Bradykinesia, resting tremor, dementia, hallucinations

A

Lewy body dementia

alpha-synuclein defect

145
Q

Urine discharge from umbilicus

A 
Patent urachus (failure to obliterate)
Allantois becomes urachus, duct between fetal bladder and yolk sack.
146
Q

Heavy period bleeding, painful menses, painful intercourse

A

Endometriosis
endometrium in abnormal location
Uterus is normal sized
Chocolate cysts in ovary, women may be infertile

147
Q

Heavy period bleeding, painful menses, pelvic pain, enlarged uterus

A

Adenomyosis

endometrium in myometrium

148
Q

Face and arm swelling, often worse in the morning, JVD

A

Superior vena cava syndrome
Associated with Lung cancer
Medical emergency which can raise ICP, increase risk of aneurysm/rupture

149
Q

Ptosis, miosis, anhidrosis, arm pain and muscle weakness

A

Pancoast tumor

Lung cancer

150
Q

Child with bone pain, lytic bone lesions, skin rash

A

Langerhans cell histiocytosis

Proliferation of Langerhans (skin dendritic cells) that are functionally immature, can’t present antigen to T cells

S-100+, CD1a+
Birbeck granules - tennis rackets on EM

151
Q

Painful, red, swollen extremities, ecchymosis, while anticoagulated

A

Heparin Induced Thrombocytopenia (HIT)
IgG abs against heparin bound to platelet factor 4, complex activates platelets

HIT type 1 - >100,000 platelets, non ab mediated
HIT type 2 - <100,000 platelets, ab mediated

Rx: stop Hep, use lepirudin, bivalirudin, argatroban

152
Q

Rigidity, myoglobinuria, hyperpyrexia, autonomic instability

A

Neuroleptic malignant syndrome
assoc with Antipsychotics

Rx: dantrolene, D2 agonists like bromocriptine

153
Q

Ascites, hydrothorax, ovarian fibroma, pulling sensation in groin

A

Meigs’ syndrome

hydrothorax is like ascites that leaks into the pleural space. its a pleural effusion of serous fluid, also seen in cirrhosis

Step One Rapid Review (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions