Classic Presentations Flashcards
(131 cards)
1
Q
Gout, intellectual disability, self-mutilating behavior in a boy
A
Lesch-Nyhan syndrome
- HGPRT deficiency, XR
2
Q
Situs inversus, chronic sinusitis, bronchiectasis, infertility
A
Kartegener syndrome
- dynein arm defect affecting cilia
3
Q
Blue sclera
A
Osteogenesis imperfecta
- Type I collagen defect
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
5
Q
Arachnodactyly, lens dislocation (upwward), aortic dissection, hyperflexible joints
A
Marfan Syndrome
- fibrillin defect
6
Q
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome
- mosaic G-protein signaling mutation
7
Q
Calf pseudohypertrophy
A
Muscular Dystrophy
- most commonly: Duchenne
- XR frameshift mutation of dystrophin gene
8
Q
Child uses arms to stand up from squat
A
Duchenne muscular dystrophy
- Gower sign
9
Q
Slow, progressive muscle weakness in boys
A
Becker Muscular Dystrophy
- X-linked missense mutation in dystrophin
- less severe than Duchenne
10
Q
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
A
Patau syndrome
- trisomy 13
11
Q
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
A
Edwards syndrome
- trisomy 18
12
Q
Single palmar crease
A
Down syndrome
13
Q
Dilated cardiomyopathy, edema, alcoholism, or malnutrition
A
Wet beriberi
- thiamine (vit B1) deficiency
14
Q
Dermatitis, dementia, diarrhea
A
Pellagra
- niacin (vit B3) deficiency
15
Q
Swollen gums, mucosal bleeding, poor wound healing, petechiae
A
Scurvy
- vitamin C deficiency
- can’t hydroxylate proline/lysine for collagen synthesis
16
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobulinuria
A
McArdle Disease
- skeletal muscle glycogen phosphorylase deficiency
17
Q
Infant with hypoglycemia, hepatomegaly
A
Cori Disease - debranching enzyme defiency OR Von Gierke Disease (more severe) - glucose 6-phosphatase deficiency
18
Q
Myopathy (infantile hypertrophic cardiomyopathy), exercsie intolerance
A
Pompe disease
- lysosomal alpha-1,4-glucosidase deficiency
19
Q
“cherry-red spots” on macula
A
Tay-Sachs - ganglioside accumulation OR Niemann-Pick - sphingomyelin accumulation OR Central retinal artery occlusion
20
Q
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
A
Gaucher disease
- Glucocerebroside deficiency
21
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia
- decreased LDL receptor signaling
22
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
23
Q
Male child, recurrent infections, no mature B cells
A
Bruton Disease
- X-linked agammaglobulinemia
24
Q
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
A
Hyper-IgE syndrome
- Job syndrome
- neutrophil chemotaxis abnormality
25
"Strawberry tongue"
Scarlet fever
OR
Kawasaki disease
26
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome
| - meningococcemia
27
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
28
Large rash with bull's eye appearance
Erythema chronicum migrans from Ixodes tick bite
| - Lyme disease: Borrelia
29
Indurated, ulcerated genital lesion - nonpainful
Chancre
| - primary syphilis - treponema pallidum
30
Indurated, ulcerated genital lesion - painful, with exudate
Chancroid
| - haemophilus decreyi
31
Pupil accommodates but does not react
Neurosyphilis
| - Argyll-Robertson pupil
32
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata
| - secondary syphilis
33
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction
| - rapid lysis of spirochetes results in endotoxin-like release
34
Dog or cat bite resulting in infection
Pasteurella multocida
| - cellulitis at inoculation site
35
Rash on palm and soles
```
Coxsackie A
OR
Secondary syphilis
OR
Rocky Mountain spotted fever
```
36
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rhizopus fungal infection
37
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
38
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
39
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots
| - measles/rubeola virus
40
Back pain, fever, night sweats
Pott disease
| - vertebral TB
41
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth disease
- slapped cheeks appearances
- parvovirus B19
42
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
C. diff
43
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
44
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
45
Continuous 'machine-like' heart murmur
PDA
- close with indomethacin
- keep open with PGE analogs
46
Chest pain on exertion
Angina
- stable: with moderate exertion
- unstable: with minimal exertion or at rest
47
Chest pain with ST depression on ECG - negative troponins
Angina
48
Chest pain with ST depression on ECG - positive troponins
NSTEMI
49
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome
- autoimmune-mediated post-MI fibrinous pericarditis
- 2wks to several months after acute episode
50
Painful, raised red lesions on pads of fingers/toes
Osler nodes
- infective endocarditis
- immune complex deposition
51
painless erythematous lesions on palms and soles
Janeway lesions
- infective endocarditis
- septic emboli/microabscesses
52
Splinter hemorrhages in fingernails
Bacterial endocarditis
53
Retinal hemorrhages with pale centers
Roth spots
| - bacterial endocarditis
54
Distant heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
55
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
Kawasaki disease
| - treat with IVIG and aspirin
56
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura
| - IgA vasculitis affecting skin and kidneys
57
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Hereditary hemorrhagic telangiectasia
| - Osler-Weber-Rendu syndrome
58
Skin hyperpigmentation, hypotensin, fatigue
Primary adrenocortical insufficiency
- Addison disease
- increase ACTH and increase alph-MSH
59
Cold intolerance
Hypothyroidism
60
Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue
Myxedema
- caused by hypothyroidism
- Graves disease (pretibial)
61
Facial muscle spasm upon tapping
Chvostek sign
| - hypocalcemia
62
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome
| - postpartum hemorrhage leading to pituitary infarction
63
Deep, labored breathing/hyperventiliation
Diabetic ketoacidosis
| - Kussmaul respirations
64
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome
- right-sided cardiac valvular lesions
- increase 5-HIAA
65
Pancreatic, pituitary, parathyroid tumors
MEN 1
| - AD
66
Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus
MEN 2B
- AD
- RET mutation
67
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A
| - AD RET mutation
68
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign
| - distal malignant obstruction of biliary tree
69
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
70
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome
| - alcoholic and bulimic patients
71
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome
| - may progress to esophageal squamous cell carcinoma
72
Enlarged, hard left supraclavicular node
Virchow node
| - abdominal metastasis
73
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease
| - Tropheryma whipplei
74
Severe RLQ pain with palpation of LLQ
Rovsing sign
| - acute appendicitis
75
Severe RLQ pain with deep tenderness
McBurney sign
| - acute appendicitis
76
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome
- inherited
- benign polyposis can cause bowel obstruction
- increase cancer risk, mainly GI
77
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome
| - subtype of FAP
78
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome
| - posthepatic venous thrombosis
79
Severe jaundice in neonate
Crigler-Najjar syndrome
| - congenital unconjugated hyperbilirubinemia
80
Golden brown rings around peripheral cornea
Wilson disease
| - Kayser-Fleischer rings due to copper accumulation
81
Fat, female, forty, fertile, familial
Cholelithiasis (gallstones)
82
Short stature, cafe-au-lait spots, thumb/radial defects, increased incidence of tumors/leukemia, a
plastic anemia
Fanconi anemia
- genetic loss of DNA crosslink repair
- often progresses to AML
83
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobulinuria
84
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease
| - autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL
85
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia
| - defect in platelet aggregation due to lack of GpIIb/IIIa
86
Fever, night sweats, weight loss
B symptoms of lymphomas
87
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
```
Mycosis fungoides
- cutaneous T cell lymphoma
OR
Sezary syndrome
- mycosis fungoides + malignant T cells in blood
```
88
WBCs that look 'smudged'
CLL
89
Athlete with polycythemia
secondary to erythropoietin injection
90
Neonate with arm paralysis following difficult birth, arm in 'waiter's tip' position
Erb-Duchenne palsy
| - sueprior trunk (C5-C6) brachial plexus injury
91
Anterior drawer sign positive
Anterior cruciate ligament injury
92
Bone pain, bone enlargement, arthritis
Paget disease of bone
| - increase osteoblastic and osteoclastic activity
93
Swollen, hard, painful finger joints in the elderly individual, pain worse with activity
Osteoarthritis
- osteophytes on PIP [bouchard nodes]
- osteophytes on DIP [heberden nodes]
94
Sudden swollen/painful big toe joint, tophi
Gout/podagra
| - hyperuricemia
95
Dry eyes, dry mouth, arthritis
Sjogren syndrome
| - autoimmune destruction of exocrine glands
96
Urethritis, conjunctivitis, arthritis in male
Reactive arthritis associated with HLA-B27
97
Butterfly facial rash and Raynaud phenomenon in a young female
Systemic lupus erythematosus
98
Painful fingers/toes changing color from white to blue to red with cold or stress
Raynaud phenomenon
| - vasospasm in extremities
99
Anticentromere antibodies
Scleroderma (CREST)
100
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma
| - associated with HHV-8
101
Anti-desmoglein (anti-desmosome) antibodies
Pemphigus vulgarus
| - blistering
102
Pruritic, purple, polygonal planar papules and plaques (6p's)
lichen planus
103
Increase AFP in amniotic fluid/maternal serum
Dating error, anencephaly, spina bifida
| - open neural tube defects
104
Toe extension/fanning upon plantar scrape
Babinski sing
| - UMN lesion
105
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome
| - bilateral amygdala lesion
106
lucid interval after traumatic brain injury
Epidural hematoma
| - middle meningeal artery rupture
107
"worst headache of my life"
Subarachnoid hemorrhage
108
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease
| - loss of dopaminergic neurons in substantia nigra pars compacta
109
Chorea, dementia, caudate degeneration
Huntington disases
- AD
- CAG repeat expansion
110
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
Multiple sclerosis
111
Rapidly progressive limb weakness that ascends following GI/URI
Guillain-Barre syndrome
| - acute inflammatory demyelinating polyradiculopathy subtype
112
Cafe-au-lait spots, Lisch nodules (iris hamartomas), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis I
113
Vascular birthmark (port-wine stain) of the face
Nevus flammeus
| - benign, but associated with Sturge-Weber syndrome
114
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease
| - dominant tumor suppressor gene mutation
115
Bilateral acoustic schwannomas
Neurofibromatosis II
116
Hyperreflexia, hypertonia, Babinski sign pressent
UMN damage
117
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
118
Unilateral facial drooping, involving forehead
LMN facial nerve palsy
- CN VII
UMN lesions spare the forehead*
119
Episodic vertigo, tinnitus, hearing loss
Meniere disease
120
Ptosis, miosis, anhidrosis
Horner syndrome
| - sympathetic chain lesion
121
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia
- damage to MLF
- may be unilateral or bilateral
122
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophsphatemic rickets
Fanconi syndrome
| - multiple combined dysfunction of the proximal convoluted tubule
123
Bluish line on gingiva
Burton line
| - lead poisoning
124
Periorbital and/or peripheral edema, proteinuria (>3.5g/d), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
125
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome
| - mutation in collagen IV
126
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome
| - 45, XO
127
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast
| - sign of underlying neoplasm
128
Fibrous plaques in soft tissue of penus with abnormal curvature
Peyronie disease
| - connective tissue disorder
129
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis
- hyperplasia of mucous cells
- 'blue boater'
130
Pink complexion, dyspnea, hyperventilation
Emphysema
- 'pink puffer'
- centriacinar [smoking]
- panacinar [alpha1-trypsin deficiency]
131
Bilateral hilar adenopathy, uveitis
Sarcoidosis
| - noncaseating granulomas
