Rapid Review Flashcards

(130 cards)

1
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin mutation)

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2
Q

Thyroid and parathyroid tumors, pheoc

A

MEN 2A (RET mut)

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3
Q

Pupil accommodates but doesn’t react

A

Neurosyphilis (Argyll Robertson pupil)

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4
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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5
Q

Cutaneous flushing, diarrhea, bronchospasm, right-sided valvular lesions

A

Carcinoid syndrome

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6
Q

Chest pain on exertion

A

Angina

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7
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

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8
Q

Elastic skin, hypermobile joints, incr bleeding tendency

A

Ehlers-Danlos (type V collagen defect)

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9
Q

Cafe au lait spots, Lisch nodules, cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

NF1

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10
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

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11
Q

Palpable purpura on butt/legs, joint pain, abdominal pain, hematuria

A

Henoch-Schonlein purpura (IgA vasculitis)

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12
Q

Mucosal bleeding and prolonged bleeding times

A
Glanzmann thrombasthemia (lack of GpIIb/IIIa leads to impaired aggregation)
Bernard-Soulier (lack of GpIb leads to impaired plt-vWF adhesion)
Immune thrombocytopenia (anti-GpIIb/IIIa antibodies)
TTP (inhibition of defic of ADAMTS13)
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13
Q

Rapidly progressive limb weakness that ascends following GI/URI infection

A

Guillian-Barre

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14
Q

Intestinal obstruction at rectosigmoid junction in infant

A

Hirschprung (Down)

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15
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctiva and tongue, hand-foot changes

A

Kawasaki

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16
Q

Dark purple skin/mouth nodules in AIDS patient

A

Kaposi sarcoma (HHV-8)

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17
Q

Enlarged hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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18
Q

Pancreatic (ZE syndrome, insulinoma, VIPoma), pituitary, parathyroid tumors

A

MEN I

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19
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungoides (cutaneous T cell lymphoma) that can present with Sezary syndrome (T cells in blood) and Pautrier microabscesses

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20
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (Osteophytes:Bouchard nodes on PIP, Heberden on DIP)

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21
Q

Dilated cardiomyopathy, edema, alcoholism, or malnutrition

A

Wet beriberi (B1 deficiency)

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22
Q

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

A

McArdle dz (skeletal muscle glycogen phosphorylase deficiency)

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23
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast

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24
Q

Red “currant jelly” sputum

A

Klebsiella pneumonia

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25
Calf pseudohypertrophy
Muscular dystrophy
26
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha 1,4-glucosidase defic)
27
Bilateral hilar adenopathy, uveitis
Sarcoidosis
28
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme defic) or Von Gierke (Gluc-6-phosphatase defic)
29
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome
30
Continuous machine-like heart murmur
PDA
31
Painful raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
32
Facial muscle spasm upon tapping
Chvostek sign of hypocalcemia
33
Short stature, cafe au lait spots, thumb/radial defects, incr incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (loss of DNA crosslink repair)
34
Urethritis, conjunctivitis, arthritis in male
Reactive arthritis assoc with HLA-B27
35
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
36
Anaphylaxis after blood transfusion
IgA deficiency
37
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease
38
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (dysfunction of proximal convoluted tubule)
39
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
40
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
41
Retinal hemorrhages with pale centers
Roth spots
42
Deep labored breathing/hyperventilation
Kussmaul respirations of DKA
43
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis
44
Vascular birthmark (port-wine stain)
Nevus flammeus assoc with Sturge-Weber
45
Painful finger/toes changing color from white to blue to red with cold or stress
Raynaud phenomenon
46
Infant with cleft lip/palate, microcephaly/holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
47
Pink complexion, dyspnea, hyperventilation
Emphysema (centriacinar from smoking, panacinar from A1AT deficiency)
48
Kyphoscoliosis, foot abnormalities (pes cavus=high arch), hypertrophic cardiomyopathy, gait ataxia, loss of position and vibration sense
Friedreich ataxia (frataxin mutation)
49
Back pain, fever, night sweats
Pott Disease
50
Bilateral acoustic schwannomas
NF2
51
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth dz (Parvo B19)
52
Large rash with bull's-eye
Erythema chronicum migrans from Ixodes bite
53
Skin hyperpigmentation, hypotension, fatigue
Primary adrenocortical insufficiency (Addison)
54
Tay-Sachs vs Niemann-Pick
Both: neuro degeneration and Cherry red macular spots. Hepatosplenomegaly only with NM
55
Bilateral RCC, hemangioblastoma, angiomatosis, pheo
VHL
56
Periorbital/peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
57
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
58
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
59
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
60
Painless jaundice
Cancer of pancreatic head that obstucts bile duct
61
Fat, female, forty, and fertile
Cholelithiasis
62
Nystagmus, intention tremor, scanning speech, bilateral INO
MS
63
Conjugate horizontal gaze palsy, horizontal diplopia
INO from damage to MLF
64
Angiokeratomas, peripheral neuropathy, glomerulopathy
Fabry
65
Streak ovaries, congenital heart dz, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphedema
Turner
66
Infant with microcephaly, rocker-bottom feet, clenched hands, structure heart defect
Edwards syndrome (trisomy 18)
67
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (neutrophil chemotaxis abnormality)
68
Cafe au lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright (mosaic G-prot signaling mutation)
69
Ab pain, diarrhea, leukocytosis, recent Abx use
C diff
70
Dog or cat bite causing infection
Pasteurella multocida
71
Vomiting blood following GE lacerations
Mallory-Weiss syndrome in alcoholics or bulimics
72
Unilateral facial drooping involving forehead
LMN facial nerve palsy (UMN lesions spare forehead)
73
Severe RLQ pain with deep tenderness
McBurney sign of acute appendicitis
74
Athlete with polycythemia
Erythropoietin injection
75
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers
76
Anterior drawer sign
ACL injury
77
Splinter hemorrhage
Bacterial endocarditis
78
Slow, progressive muscle weakness in boys
Becker musc dystrophy
79
Butterfly facial rash and Raynaud in young female
SLE
80
Hepatosplenomegaly, pancytopenia, aseptic necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase deficiency)
81
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (conn tiss dz)
82
Hypotension, muffled heart sounds, jugular venous distension
Cardiac tamponade (Beck's triad)
83
Severe RLQ pain with palpation of LLQ
Rovsing sign of acute appendicitis
84
Severe jaundice in neonates
Crigler-Najjar
85
Systolic ejection murmur (cresc-decresc)
Aortic stenosis
86
Achilles tendon xanthoma
Familial hypercholesterolemia
87
Smooth, moist, painless, wart-like white lesions on genitals
Condyloma lata (secondary syphilis)
88
Episodic vertigo, tinnitus, hearing loss
Meniere disease
89
Fever, chills, headache, myalgia following Abx treatment for syphilis
Jarisch-Herxheimer reaction
90
Hyperreflexia, hypertonia, positive Babinski sign
UMN damage
91
Inspissated fecal mass obstructing ileum in infant
Meconium ileus (CF)
92
Golden brown rings around peripheral cornea
Wilson dz
93
Dementia, dermatitis, diarrhea
Pellagra (B3 deficiency)
94
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
95
Black eschar on face of patient with DKA
Mucor or Rhizopus infection
96
Fever, night sweats, weight loss
B symptoms of lymphoma
97
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
98
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (Type IV collage mutation)
99
Single palmar crease
Down syndrome
100
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune anemia [IgM and complement] caused by Mycoplasma pneum, mono, CLL
101
Cutaneous/dermal edema due to conn tiss deposition
Myxedema (caused by hypothyroidism and Graves)
102
Posterior drawer sign
PCL injury
103
Thyroid tumor, ganglioneuromas, pheo, marfanoid habitus
MEN 2B (RET mut)
104
Dysphagia (esophageal webs), glossitis, iron defic anemia
Plummer-Vinson
105
Sudden swollen painful big toe joint/tophi
Gout/podagra
106
Inability to flex MCP and extend DIP and PIP joints
Klumpke palsy "claw hand" (inferior trunk [C8-T1] brachial plexus injury)
107
Strawberry tongue
Scarlet fever | Kawasaki
108
Red currant jelly stools
Acute mesenteric ischemia (adults), intussusception (kids)
109
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friederichson
110
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu (hereditary hemorrhagic telangiectasia)
111
Dry eyes, dry mouth, arthritis
Sjogren
112
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
113
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener (dynein arm defect of cilia)
114
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan (HGPRT defic) (X-linked)
115
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
116
Bone pain, bone enlargement, arthritis
Paget disease of bone
117
Constipation, abdominal pain, anemia, neurologic deficits in a child
Lead poisoning
118
Indurated, ulcerated genital lesion (painful and painless)
Painful: chancroid (haemophilus ducreyi) Painless: chancre (primary syphilis)
119
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury) "waiter's tip"
120
Cherry-red spots on macula
Tay-Sachs (ganglioside accum), Niemann-Pick (sphingomyelin accum), central retinal artery occlusion
121
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
122
Krabbe vs Metachromatic leukodystrophy
Both: neuro degen, peripheral neuropathy. Optic atrophy only in Krabbe
123
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (Vitamin C defic: can't hydroxylate proline/lysine for collagen synthesis)
124
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles/rubeola)
125
Abdominal pain, ascites, hepatomegaly
Budd-Chiari
126
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
127
Child uses arms to stand up from squat
Gowers sign: Duchenne musc dystrophy
128
Pruritic, purple, polygonal planar papules and plaques
Lichen planus
129
Chorea, dementia, caudate degeneration
Huntington's
130
Sarcomas, breast cancer, brain tumor, adrenocortical carcinmoa, leukemia
Li-Fraumeni