Classic Presentations Flashcards
(125 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (post hepatic venous thrombosis)
2
Q
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
Clostridium Difficile infection
3
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decreased LDL receptor signalling)
4
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
5
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
Anterior drawer sign +
A
ACL injury
7
Q
Arachnodactylyl, lens dislocation (upwards), aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
8
Q
Athlete with polycythemia
A
Secondary to erythropoietin injection
9
Q
Back pain, fever, night sweats
A
Pott disease (vertebral TB)
10
Q
Bilateral acoustic schwannomas
A
Neurofibromatosis Type 2
11
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
12
Q
Black eschar on face of patient with diabetic ketoacidosis
A
Mucor or Rhizopus fungal infection
13
Q
Blue sclera
A
Osteogenesis imperfecta (type 1 collagen defect)
14
Q
Bluish line on gingiva
A
Burton line (lead poisoning)
15
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (increase osteoblastic and osteoclastic activity)
16
Q
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
A
Aortic regurgitation
17
Q
Butterfly facial rash and Raynaud phenomenon in a young female
A
Systemic lupus erythematosus
18
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytoma, optic gliomas
A
Neurofibromatosis type 1
19
Q
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signalling mutation)
20
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
21
Q
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
A
Kawasaki disease (treat with IVIG and ASA)
22
Q
“Cherry-red spots” on macula”
A
Tay-Sachs (GM 2 ganglioside accumulation due to lack of Hex-A)
or
Neumann-Pick (sphingomyelin accumulation due to deficiency of sphingomyelinase)
or
Central retinal artery occlusion
23
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion; unstable: with minimal exertion or a rest)
24
Q
Chest pain, pericardial effusion/ friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)
25
Chest pain with ST depression on EKG
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Unstable angina (if neg- trop)
NSTEMI (if pos+ trop)
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26
Child uses arms to stand from squat
Duchenne muscular dystrophy (Gower's sign)
27
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/ fifth disease ("slapped cheeks" appearance, caused by parvovirus B19)
28
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
29
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
30
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
31
Cold intolerance
Hypothyroidism
32
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF; may be unilateral or bilateral)
33
Continuous "machine like" murmur
PDA (close with indomethacin; keep open with PGE analogs)
34
Cutaneous/ dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Grave's disease if pretibial)
35
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, increase in 5-HIAA)
36
Dark purple skin/mouth nodules in patients with AIDS
Kaposi sarcoma, associated with HHV-8
37
Deep, laboured breathing / hyperventilation
Diabetic ketoacidosis (Kussmaul respirations)
38
Dermatitis, dementia, diarrhea
Pellagra (niacin -Vit B3- def)
39
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine -VitB1- def)
40
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
41
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
42
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal SCC)
43
Elastic skin, hyper mobility of joints, increased bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
44
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
45
Episodic vertigo, tinnitus, hearing loss
Meniere disease
46
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungicides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungicides + malignant T cells in blood)
47
Facial muscle spasm upon tapping
Chovstek sign (hypocalcemia)
48
Fat, female, forty, fertile
Cholelithiasis
49
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
50
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
51
Fever, night sweats, weight loss
B symptoms of lymphoma
52
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
53
Golden brown rings around peripheral cornea
Wilson disease (Kayser-Fleischer signs due to copper accumulation)
54
Gout, intellectual disability, self-mutilating behaviour in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
55
Hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase chance risk, mainly GI
56
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crisis
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
58
Hyperphagia, hyper sexuality, hyperorality, hyper docility
Kluver-Bucy syndrome (bilateral amygdala lesion)
59
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
60
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
61
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasie of mucous cells, "Blue bloater")
62
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, treponema pallidum)
| Painful, with exudate: chancroid (Haemophilus ducreyi)
63
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
64
Infant with hypoglycaemia, hepatomegaly
Cori disease (deb ranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphate deficiency, more severe)
65
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
66
Large rash with bull's-eye appearance
Erythema chronicum migrant from Ixodes tick bite (Lyme disease: Borrelia)
67
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
68
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
69
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
70
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
71
Multiple colon polyps, osteomas/soft tissue tutors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
72
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
73
Neonate with arm paralysis following difficult birth
Erg-Duchenne palsy (superior trunk C5-C6 brachial plexus injury: "waiter's tip"
74
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
75
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
76
Painful blue fingers/ toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia cause by Mycoplasma pneumonia, infectious mononucleosis, CLL)
77
Painful fingers/toes changing colour from white to blue to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
78
Painful, raised red lesions on pads of fingers/ toes
Osler nodes (infective endocarditis, immune complex deposition)
79
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli / microabsesses)
80
Painless jaundice
Cancer of he pancreatic head obstructing bile duct
81
Palpable purpura on buttocks/ legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
82
Pancreatic, pituitary, parathyroid tumours
MEN 1 (autosomal dominant)
83
Periorbital and/or peripheral edema, proteinuria (> 3.5g/day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
84
Pink complexion, dyspnea, hyperventilation
Emphysema ("pink puffer"; centriacinar (smoking) or panacinar (alpha1-antitrypsin deficiency)
85
Polyturia, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
86
Pruritic, purple, polygonal planar papules and plaques (6 Ps)
Lichen planus
87
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
88
Pupil accommodates but doesn't react
Neurosyphilis (Argyll Robertson pupil)
89
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (Acute inflammatory demyelinating polyradiculopathy subtype)
90
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
91
Recurrent cold (noninflammed) abscesses, unusual eczema, high serum IgE
Hyper-IgE - Job syndrome: neutrophil chemotaxis abnormality
92
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
93
Red "currant jelly" stools
Acute mesenteric ischema (adults), intussusception (kids)
94
Red, itchy, swollen rash of nipple / areola
Paget disease of the breast (sign of underlying neoplasm)
95
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
96
Renal cell carcinoma (bilateral), hemangioblastomas, angioblastomas, pheochromocytoma
von Hippel-Lindau disease (dominant tutor suppressor gene mutation)
97
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neutrons in substantiated nigra pars compacta)
98
Retinal hemorrhages with pale centres
Roth spots (bacterial endocarditis)
99
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
100
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
101
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
102
Short stature, cafe au lait spots, thumb/ radial defects, increased incidence of tutors / leukaemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
103
Single palmar crease
Down syndrome
104
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dyne arm defect affecting cilia)
105
Skin hyperpigmentaiton, hypotension, fatigue
Primary adrenocortical insufficiency (eg Addison disease causes increased ACTH and increased alpha-MSH production)
106
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
107
Small, irregular red spots on buccal / linguinal mucosa with blue-white centers
Koplik spots (measles (rubeola) virus)
108
Smooth, moist, painless, wart-like lesions on genitals
Condylomata lata (seconadary syphilis)
109
Splinter hemorrhages in fingernails
Bacterial endocarditis
110
"Strawberry tongue"
Scarlet fever ; Kawasaki disease
111
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short statue, webbed neck, lymphedema
Turner syndrome (45 XO)
112
Sudden swollen/painful big toe joint, tophi
Gout / podagra (hyperuricemia)
113
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vit C deficiency; can't hydroxylate proline / lysine for collagen synthesis)
114
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP (Bouchard notes) and DIP (Herberden nodes))
115
Systolic ejection murmur (crescendo - decrescendo)
Aortic stenosis
116
Telangectasias, recurrent epistaxis, skin discolouration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangectasias)
117
Thyroid and parathyroid tutors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
118
Thyroid tumors, pheochromochtoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
119
Toe extension / fanning upon plantar scrape
Babinski sign (UMN lesion)
120
Unilateral facial dropping involving forehead
LMN facial nerve (CN VII palsy); UMN lesions spare the forehead
121
Urethritis, conjunctivitis, arthritis in males
Reactive arthritis associated with HLA-B27
122
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
123
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
124
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (tropheryma whipplei)
125
"Worst headache of my life"
Subarachnoid hemorrhage
