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Clinical Presentation Flashcards

(115 cards)

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1
Q

Infant with:

1) hypoglycemia
2) failure to thrive
3) Hepatomegaly

A

Cori’s disease

debranching enzyme deficiency

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2
Q

Infant with:

1) microcephaly
2) rocker-bottom feet
3) clenched hands
4) structural heart defect

A

Edward’s syndrome

trisomy 28

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3
Q

1) Jaundice

2) palpable distended non-tender gallbladder

A

Courvoisier’s sign

distal obstruction of biliary tree

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4
Q

Large rash with bull’s-eye appearance

A

Erythema chronicum migrans from Ixodes tick bite

Lyme disease: Borrelia

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5
Q

Lucid interval after tramatic brain injury

A

Epidural hematoma

middle meningeal artery rupture

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6
Q

1) Male child
2) recurrent infections
3) no mature B cells

A

Bruton’s disease

X-linked agammaglobulinemia

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7
Q

1) Mucosal bleeding

2) prolonged bleeding time

A

Glanzmann’s thrombasthenia

(defect in platelet aggregation due to lack of
GpIIb/IIIa)

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8
Q

1) Muffled heart sounds
2) distended neck veins
3) hypotension

A

Beck’s triad of cardiac tamponade

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9
Q

1) Multiple colon polyps
2) Osteoma/soft tissue tumors
3) impacted/supernumerary teeth

A

Gardner’s syndrome

subtype of FAP

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10
Q

1) myopathy (infantile hypertrophic cardiomyopathy)

2) exercise intolerance

A

Pompe’s disease

lysosomal a-1,4-glucosidase deficiency

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11
Q

Neonate with arm paralysis following difficult birth

A

Erb-Deuchenne palsy

superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”

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12
Q

1) No lactation postpartum
2) absent menstruation
3) cold intolerance

A

Sheehan’s syndrome

pituitary infarction

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13
Q

1) Nystagmus
2) intention tremor
3) scanning speech
4) bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

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14
Q

Oscillating slow/fast breathing

A

Cheyne-Strokes respirations

central apnea in CHF or increased intracranial pressure

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15
Q

1) Painful blue fingers/toes

2) hemolytic anemia

A

Cold agglutinin disease

autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, Infectious mononucleosis

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16
Q

Painful, pale, cold fingers/toes

A

Raynaud’s phenomenon

Vasospasm in extremities

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17
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler’s node

infective endocarditis, immune complex deposition

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18
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions

infective endocarditis, septic emboli/microabscesses

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19
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

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20
Q

1) Palpable purpura on buttocks/legs
2) joint pain
3) abdominal pain (child)
4) hematuria

A

Henoch-Schönlein purpura

IgA vasculitis affecting skin and kidneys

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21
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1

autosomal dominant

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22
Q

1) Periorbital and/or peripheral edema
2) proteinuria
3) hypoalbuminemia
4) hypercholesterolemia

A

Nephrotic syndrome

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23
Q

1) Pink complexion
2) dyspnea
3) hyperventilation

A

“pink puffer”

Emphysema: centriacinar [smoking], panacinar [Alpha-1 antitrypsin deficiency]

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24
Q

Infant with:

1) failure to thrive
2) hepatosplenomegaly
3) neurodegeneration

A

Niemann-Pick disease

genetic sphingomyelinase deficiency

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25
1) abdominal pain 2) ascites 3) hepatomegaly
Budd-Chiari syndrome | posthepatic venous thrombosis
26
Achilles tendon xanthoma
Familial hypercholesterolemia | decreased LDL receptor signaling
27
1) Adrenal hemorrhage 2) hypotension 3) DIC
Waterhouse-Friderichsen syndrome | meningococcemia
28
1) Arachnodactyly 2) lens dislocation 3) aortic dissection 4) hyperflexible joints
Marfan's syndrome | fibrillin defect
29
Athlete with polycythemia
Secondary to erythropoietin injection
30
1) Back pain 2) fever 3) night sweats 4) weight loss
Pott's disease | vertebral tuberculosis
31
1) Bilateral hilar adenopathy | 2) uveitis
Sarcoidosis | noncaseating granulomas
32
Blue sclera
Osteogenesis imperfecta | type 1 collagen defect
33
Bluish line on gingiva
Burton's line | lead poisoning
34
1) Bone pain 2) bone enlargement 3) arthritis
Paget's disease of bone | increased osteoblastic and osteoclastic activity
35
1) Bounding pulses 2) diastolic heart murmur 3) head bobbing
Aortic regurgitation
36
"Butterfly" facial rash and Raynaud's phenomenon in a young female
Systemic lupus erythematosus
37
1) Café-au-lait spots | 2) Lisch nodules (iris hamartoma)
McCune-Albright syndrome | mosaic G–protein signaling mutation
38
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene
39
"Cherry–red spot" on macula
~Tay-Sachs (ganglioside accumulation) ~Niemann-Pick (sphingomyelin accumulation) ~central retinal artery occlusion
40
Chest pain on exertion
Angina | stable: with moderate exertion (unstable: with minimal exertion)
41
1) Chest pain 2) pericardial effusion/friction rub 3) persistent fever following MI
Dressler's syndrome | autoimmune–mediated post–MI fibrinous pericarditis, 1-12 weeks after acute episode
42
Child uses arms to stand up from squat
Gower's sign | Duchenne muscular dystrophy
43
Child with fever later develops red rash on face that spreads to body
"Slapped cheeks" | erythema infectiosum/5th disease: parvovirus B19
44
1) Chorea 2) dementia 3) caudate degeneration
Huntington's disease (autosomal dominant CAG repeat expansion) (Chromosome 4) (Decreased GABA and ACh)
45
1) Chronic exercise intolerance with myalgia 2) fatigue 3) painful cramps 4) myoglobinuria
McArdle's disease | muscle glycogen phosphorylase deficiency
46
Cold intolerance
Hypothyroidism
47
1) Conjugate lateral gaze palsy | 2) horizontal diplopia
Internuclear ophthalmoplegia | damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]
48
Continuous "machinery" heart murmur
PDA | close with indomethacin; open or maintain with misoprostol [PGs]
49
Cutaneous/dermal edema due to connective tissue deposition
Myxedema | caused by hypothyroidism, Graves' disease [peritibial]
50
Dark purple skin/mouth nodules
Kaposi's sarcoma | usually AIDS patients [MSM]: associated with HHV-8
51
Deep, labored breathing/hyperventilation
Kussmaul breathing | diabetic ketoacidosis
52
1) Dermatitis 2) dementia 3) diarrhea
Pellagra (niacin [vitamin B3] deficiency
53
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi | thiamine [vitamin B1] deficiency
54
Dog or cat bite resulting in infection
Pasteurella multocida | Cellulitis at inoculations site
55
1) Dry eyes 2) dry mouth 3) arthritis
Sjögren's syndrome | autoimmune destruction of exocrine glands
56
1) Dysphasia (esophageal web's) 2) glossitis 3) iron deficiency anemia
Plummer-Vinson syndrome | may progress to esophageal squamous cell carcinoma
57
1) Elastic skin | 2) hypermobility of joints
Ehlers-Danlos syndrome | type III collagen defect
58
Enlarged, hard left supraclavicular node
Virchow's node | abdominal metastasis
59
1) Erythrodermal 2) lymphadenopathy 3) Hepatosplenomegaly 4) atypical T cells
Sézary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
60
Facial muscle spasm upon tapping
Chvostek's sign | hypocalcemia
61
1) Fat 2) female 3) forty 4) fertile
Cholelithiasis | gallstones
62
1) Fever 2) cough 3) conjunctivitis 4) coryza 5) diffuse rash
Measles | Morbillivirus
63
1) Fever 2) night sweats 3) weight loss
B symptoms (staging) of lymphoma
64
Fibrous plaques is soft tissue of penis
Peyronie's disease | connective tissue disorder
65
1) Gout 2) mental retardation 3) self-mutilating behavior in a boy
Lesch-Nyhan syndrome | HGPRT deficiency, X-linked recessive
66
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings | copper accumulation from Wilson's disease
67
1) Hamartomatous G.I. polyps | 2) hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome | inherited, benign polyposis can cause bowel obstruction; increase cancer risk, mainly G.I.
68
1) Hepatosplenomegaly 2) osteoporosis 3) neurologic symptoms
Gaucher's disease | glucocerebrosidase deficiency
69
1) Hereditary nephritis 2) sensorineural hearing loss 3) cataracts
Alport syndrome | mutation in alpha chain of collagen IV
70
1) Hyperphagia 2) hypersexuality 3) hyperorality 4) hyperdocility
Klüver-Bucy syndrome | bilateral amygdala lesion
71
1) Hyperreflexia 2) hypertonia 3) Babinski sign present
UMN lesion/damage
72
1) Hyporeflexia 2) hypotonia 3) atrophy 4) fasciculations
LMN lesion/damage
73
1) Hypoxemia 2) polycythemia 3) hypercapnia
"Blue bloater" | chronic bronchitis: hyperplasia of mucous cells
74
Indurated, ulcerated general lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)
75
Infant with: 1) cleft lip/pallet 2) microcephaly or holoprosencephaly 3) polydactyly 4) cutis aplasia
Patau's syndrome (trisomy 13)
76
1) Polyurea 2) renal tubular acidosis type 2 3) growth failure 4) electrolyte imbalances 5) hypophosphatemic rickets
Fanconi's syndrome | proximal tubular reabsorption defect
77
Positive anterior "drawer sign"
Anterior cruciate ligament injury | ACL injury
78
Pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
79
1) Ptosis 2) meiosis 3) anhidrosis
Horner's syndrome | sympathetic chain lesion
80
Pupil accommodates but doesn't react
Argyll Robertson pupil | neurosyphilis
81
Rapidly progressive leg weakness that ascends following G.I./upper respiratory infection
Guillain-Barré syndrome | acute autoimmune inflammatory demyelinating polyneuropathy
82
Rash on palms and soles
~Coxsackie A ~Secondary syphilis ~Rocky Mountain spotted fever
83
Red "current jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
84
Red "currant jelly" stool
~Acute mesenteric ischemia (adults) ~intussusception (infants)
85
1) Red urine in the morning | 2) fragile RBCs
Paroxysmal nocturnal hemoglobinuria
86
1) Renal cell carcinoma (bilateral) 2) Hemangioblastomas 3) angiomatosis 4) pheochromocytoma
von Hippel-Lindau disease | dominant tumor suppressor gene mutation
87
1) Resting tremor 2) rigidity 3) akinesia 4) postural instability
Parkinson's disease | nigrostriatal dopamine depletion
88
Retinal hemorrhages with pale centers
Roth's spots | bilateral endocarditis
89
Severe jaundice in neonate
Crigler-Najjar syndrome | congenital unconjugated hyperbilirubinemia
90
Severe RLQ pain with palpation of the LLQ
Rovsing's sign | acute appendicitis
91
Severe RLQ pain with rebound tenderness
McBurney's sign | appendicitis
92
1) Short stature 2) increased incidence of tumors/leukemia 3) aplastic anemia
Fanconi's anemia | genetic loss of DNA cross-link repair; often progresses to AML
93
Single palmar crease
Simian crease | Down syndrome
94
1) Situs inversus 2) chronic sinusitis 3) bronchiectasis 4) infertility
Kartanger's syndrome | dynein arm defect affecting cilia
95
1) Skin hyperpigmentation 2) hypotension 3) fatigue
Addison's disease | primary adrenocortical insufficiency causes increased ACTH and increased Alpha-MSH production
96
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy | X-linked missense mutation in dystrophin; less severe than Duchenne's
97
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
98
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
99
Splinter hemorrhages in fingernails
Bacterial endocarditis
100
"Strawberry tongue"
~Scarlet fever ~Kawasaki disease ~toxic shock syndrome
101
1) Streak ovaries 2) congenital heart disease 3) horseshoe kidney 4) cystic hygroma at birth 5) short stature 6) webbed neck 7) lymphedema
Turner syndrome | 45, XO
102
Sudden swollen/painful big toe joint, tophi
Gout/podagra | hyperuricemia
103
1) Swollen gums 2) mucosal bleeding 3) poor wound healing 4) spots on skin
Scurvy | vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis
104
Swollen, hard, painful finger joints
Osteoarthritis | osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes]
105
Systolic ejection murmur | crescendo-decrescendo
Aortic valve stenosis
106
1) Thyroid tumors 2) parathyroid tumors 3) pheochromocytoma
MEN 2A | autosomal dominant ret mutation
107
1) Thyroid tumors 2) pheochromocytoma 3) ganglioneuromatosis
MEN 2B | autosomal dominant ret mutation
108
Toe extension/fanning upon plantar scrape
Babinski sign | UMN lesion
109
Unilateral facial drooping involving forehead
Facial nerve | LMN CN VII palsy
110
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA–B27
111
Vascular birthmark (port-wine stain)
Hemangioma | benign, but associated with Sturge-Weber syndrome
112
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome | alcoholic and bulimic patients
113
1) Weight-loss 2) diarrhea 3) arthritis 4) fever 5) adenopathy
Whipple's disease | Tropheryma whipplei
114
"Worst headache of my life"
Subarachnoid hemorrhage
115
Urinary incontinence ("what") Dementia/cognitive dysfunction ("wacky") Ataxia ("wobbly")
Normal pressure hydrocephalus

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