Classic Presentations Flashcards

1
Q

Gout, intellectual disability, self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome

- HGPRT deficiency, XR

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2
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartegener syndrome

- dynein arm defect affecting cilia

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3
Q

Blue sclera

A

Osteogenesis imperfecta

- Type I collagen defect

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4
Q

Elastic skin, hypermobility of joints, increased bleeding tendency

A

Ehlers-Danlos syndrome

  • Type V collagen defect
  • Type III collagen defect in vascular subtype
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5
Q

Arachnodactyly, lens dislocation (upwward), aortic dissection, hyperflexible joints

A

Marfan Syndrome

- fibrillin defect

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6
Q

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

A

McCune-Albright syndrome

- mosaic G-protein signaling mutation

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7
Q

Calf pseudohypertrophy

A

Muscular Dystrophy

  • most commonly: Duchenne
    • XR frameshift mutation of dystrophin gene
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8
Q

Child uses arms to stand up from squat

A

Duchenne muscular dystrophy

- Gower sign

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9
Q

Slow, progressive muscle weakness in boys

A

Becker Muscular Dystrophy

  • X-linked missense mutation in dystrophin
  • less severe than Duchenne
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10
Q

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patau syndrome

- trisomy 13

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11
Q

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

A

Edwards syndrome

- trisomy 18

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12
Q

Single palmar crease

A

Down syndrome

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13
Q

Dilated cardiomyopathy, edema, alcoholism, or malnutrition

A

Wet beriberi

- thiamine (vit B1) deficiency

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14
Q

Dermatitis, dementia, diarrhea

A

Pellagra

- niacin (vit B3) deficiency

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15
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy

  • vitamin C deficiency
  • can’t hydroxylate proline/lysine for collagen synthesis
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16
Q

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

A

McArdle Disease

- skeletal muscle glycogen phosphorylase deficiency

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17
Q

Infant with hypoglycemia, hepatomegaly

A
Cori Disease
- debranching enzyme defiency 
OR
Von Gierke Disease (more severe)
- glucose 6-phosphatase deficiency
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18
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercsie intolerance

A

Pompe disease

- lysosomal alpha-1,4-glucosidase deficiency

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19
Q

“cherry-red spots” on macula

A
Tay-Sachs
- ganglioside accumulation
OR
Niemann-Pick
- sphingomyelin accumulation
OR
Central retinal artery occlusion
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20
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

A

Gaucher disease

- Glucocerebroside deficiency

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21
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia

- decreased LDL receptor signaling

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22
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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23
Q

Male child, recurrent infections, no mature B cells

A

Bruton Disease

- X-linked agammaglobulinemia

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24
Q

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

A

Hyper-IgE syndrome

  • Job syndrome
  • neutrophil chemotaxis abnormality
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25
Q

“Strawberry tongue”

A

Scarlet fever
OR
Kawasaki disease

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26
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome

- meningococcemia

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27
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

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28
Q

Large rash with bull’s eye appearance

A

Erythema chronicum migrans from Ixodes tick bite

- Lyme disease: Borrelia

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29
Q

Indurated, ulcerated genital lesion - nonpainful

A

Chancre

- primary syphilis - treponema pallidum

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30
Q

Indurated, ulcerated genital lesion - painful, with exudate

A

Chancroid

- haemophilus decreyi

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31
Q

Pupil accommodates but does not react

A

Neurosyphilis

- Argyll-Robertson pupil

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32
Q

Smooth, moist, painless, wart-like white lesions on genitals

A

Condylomata lata

- secondary syphilis

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33
Q

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

A

Jarisch-Herxheimer reaction

- rapid lysis of spirochetes results in endotoxin-like release

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34
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida

- cellulitis at inoculation site

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35
Q

Rash on palm and soles

A
Coxsackie A 
OR
Secondary syphilis
OR
Rocky Mountain spotted fever
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36
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

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37
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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38
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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39
Q

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

A

Koplik spots

- measles/rubeola virus

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40
Q

Back pain, fever, night sweats

A

Pott disease

- vertebral TB

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41
Q

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

A

Erythema infectiosum/fifth disease

  • slapped cheeks appearances
  • parvovirus B19
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42
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

C. diff

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43
Q

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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44
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic stenosis

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45
Q

Continuous ‘machine-like’ heart murmur

A

PDA

  • close with indomethacin
  • keep open with PGE analogs
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46
Q

Chest pain on exertion

A

Angina

  • stable: with moderate exertion
  • unstable: with minimal exertion or at rest
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47
Q

Chest pain with ST depression on ECG - negative troponins

A

Angina

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48
Q

Chest pain with ST depression on ECG - positive troponins

A

NSTEMI

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49
Q

Chest pain, pericardial effusion/friction rub, persistent fever following MI

A

Dressler syndrome

  • autoimmune-mediated post-MI fibrinous pericarditis
  • 2wks to several months after acute episode
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50
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes

  • infective endocarditis
  • immune complex deposition
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51
Q

painless erythematous lesions on palms and soles

A

Janeway lesions

  • infective endocarditis
  • septic emboli/microabscesses
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52
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

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53
Q

Retinal hemorrhages with pale centers

A

Roth spots

- bacterial endocarditis

54
Q

Distant heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

55
Q

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

A

Kawasaki disease

- treat with IVIG and aspirin

56
Q

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

A

Henoch-Schonlein purpura

- IgA vasculitis affecting skin and kidneys

57
Q

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

A

Hereditary hemorrhagic telangiectasia

- Osler-Weber-Rendu syndrome

58
Q

Skin hyperpigmentation, hypotensin, fatigue

A

Primary adrenocortical insufficiency

  • Addison disease
  • increase ACTH and increase alph-MSH
59
Q

Cold intolerance

A

Hypothyroidism

60
Q

Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue

A

Myxedema

  • caused by hypothyroidism
  • Graves disease (pretibial)
61
Q

Facial muscle spasm upon tapping

A

Chvostek sign

- hypocalcemia

62
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome

- postpartum hemorrhage leading to pituitary infarction

63
Q

Deep, labored breathing/hyperventiliation

A

Diabetic ketoacidosis

- Kussmaul respirations

64
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome

  • right-sided cardiac valvular lesions
  • increase 5-HIAA
65
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1

- AD

66
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus

A

MEN 2B

  • AD
  • RET mutation
67
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A

- AD RET mutation

68
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign

- distal malignant obstruction of biliary tree

69
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

70
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome

- alcoholic and bulimic patients

71
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome

- may progress to esophageal squamous cell carcinoma

72
Q

Enlarged, hard left supraclavicular node

A

Virchow node

- abdominal metastasis

73
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease

- Tropheryma whipplei

74
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign

- acute appendicitis

75
Q

Severe RLQ pain with deep tenderness

A

McBurney sign

- acute appendicitis

76
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

A

Peutz-Jeghers syndrome

  • inherited
  • benign polyposis can cause bowel obstruction
  • increase cancer risk, mainly GI
77
Q

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

A

Gardner syndrome

- subtype of FAP

78
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome

- posthepatic venous thrombosis

79
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome

- congenital unconjugated hyperbilirubinemia

80
Q

Golden brown rings around peripheral cornea

A

Wilson disease

- Kayser-Fleischer rings due to copper accumulation

81
Q

Fat, female, forty, fertile, familial

A

Cholelithiasis (gallstones)

82
Q

Short stature, cafe-au-lait spots, thumb/radial defects, increased incidence of tumors/leukemia, a
plastic anemia

A

Fanconi anemia

  • genetic loss of DNA crosslink repair
  • often progresses to AML
83
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobulinuria

84
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease

- autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL

85
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia

- defect in platelet aggregation due to lack of GpIIb/IIIa

86
Q

Fever, night sweats, weight loss

A

B symptoms of lymphomas

87
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A
Mycosis fungoides
- cutaneous T cell lymphoma
OR
Sezary syndrome
- mycosis fungoides + malignant T cells in blood
88
Q

WBCs that look ‘smudged’

A

CLL

89
Q

Athlete with polycythemia

A

secondary to erythropoietin injection

90
Q

Neonate with arm paralysis following difficult birth, arm in ‘waiter’s tip’ position

A

Erb-Duchenne palsy

- sueprior trunk (C5-C6) brachial plexus injury

91
Q

Anterior drawer sign positive

A

Anterior cruciate ligament injury

92
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone

- increase osteoblastic and osteoclastic activity

93
Q

Swollen, hard, painful finger joints in the elderly individual, pain worse with activity

A

Osteoarthritis

  • osteophytes on PIP [bouchard nodes]
  • osteophytes on DIP [heberden nodes]
94
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra

- hyperuricemia

95
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome

- autoimmune destruction of exocrine glands

96
Q

Urethritis, conjunctivitis, arthritis in male

A

Reactive arthritis associated with HLA-B27

97
Q

Butterfly facial rash and Raynaud phenomenon in a young female

A

Systemic lupus erythematosus

98
Q

Painful fingers/toes changing color from white to blue to red with cold or stress

A

Raynaud phenomenon

- vasospasm in extremities

99
Q

Anticentromere antibodies

A

Scleroderma (CREST)

100
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma

- associated with HHV-8

101
Q

Anti-desmoglein (anti-desmosome) antibodies

A

Pemphigus vulgarus

- blistering

102
Q

Pruritic, purple, polygonal planar papules and plaques (6p’s)

A

lichen planus

103
Q

Increase AFP in amniotic fluid/maternal serum

A

Dating error, anencephaly, spina bifida

- open neural tube defects

104
Q

Toe extension/fanning upon plantar scrape

A

Babinski sing

- UMN lesion

105
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome

- bilateral amygdala lesion

106
Q

lucid interval after traumatic brain injury

A

Epidural hematoma

- middle meningeal artery rupture

107
Q

“worst headache of my life”

A

Subarachnoid hemorrhage

108
Q

Resting tremor, rigidity, akinesia, postural instability, shuffling gait

A

Parkinson disease

- loss of dopaminergic neurons in substantia nigra pars compacta

109
Q

Chorea, dementia, caudate degeneration

A

Huntington disases

  • AD
  • CAG repeat expansion
110
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

A

Multiple sclerosis

111
Q

Rapidly progressive limb weakness that ascends following GI/URI

A

Guillain-Barre syndrome

- acute inflammatory demyelinating polyradiculopathy subtype

112
Q

Cafe-au-lait spots, Lisch nodules (iris hamartomas), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis I

113
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus

- benign, but associated with Sturge-Weber syndrome

114
Q

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

A

von Hippel-Lindau disease

- dominant tumor suppressor gene mutation

115
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis II

116
Q

Hyperreflexia, hypertonia, Babinski sign pressent

A

UMN damage

117
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

118
Q

Unilateral facial drooping, involving forehead

A

LMN facial nerve palsy
- CN VII
UMN lesions spare the forehead*

119
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

120
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome

- sympathetic chain lesion

121
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia

  • damage to MLF
  • may be unilateral or bilateral
122
Q

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

A

Fanconi syndrome

- multiple combined dysfunction of the proximal convoluted tubule

123
Q

Bluish line on gingiva

A

Burton line

- lead poisoning

124
Q

Periorbital and/or peripheral edema, proteinuria (>3.5g/d), hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

125
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome

- mutation in collagen IV

126
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner syndrome

- 45, XO

127
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast

- sign of underlying neoplasm

128
Q

Fibrous plaques in soft tissue of penus with abnormal curvature

A

Peyronie disease

- connective tissue disorder

129
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis

  • hyperplasia of mucous cells
  • ‘blue boater’
130
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema

  • ‘pink puffer’
  • centriacinar [smoking]
  • panacinar [alpha1-trypsin deficiency]
131
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis

- noncaseating granulomas