Classic presentations Flashcards
(117 cards)
0
Q
Achilles’ tendon xanthoma
A
Familial hypercholesterolemia (decr LDL receptor signalling)
1
Q
Abdo pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Adrenal haemorrhage, hypoTN, DIC
A
Waterhouse-friderichsen syndrome (meningococcemia
3
Q
Arachnodactaly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
4
Q
Athlete with polycythemia
A
Secondary to EPO injection
5
Q
Back pain, fever, night sweats, weight loss
A
Potts disease - vertebral granulomas
6
Q
bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
7
Q
Blue sclera
A
Osteogenesis imperfecta (type 1 collagen defect)
8
Q
Bluish line on gingiva
A
Burton’s line - lead poisoning
9
Q
Bone pain, bone enlargement, arthritis
A
Paget’s disease of the bone (incr osteoblastic and osteoclastic activity)
10
Q
bounding pulses, diastolic heart murmur, head bobbing
A
aortic regurgitation
11
Q
Butterfly facial rash and Raynaud’s phenomenon in a young female
A
SLE
12
Q
Cafe-aulait spots, lisch nodules
A
Lisch nodules (iris hamartoma) neurofibromatosis - type 1 (+phaeochromocytoma, optic gliomas)
13
Q
Cafe-au-lait spots, polyostotic fibrous dysplasias, precocious puberty, multiple endocrine abnormalities
A
Mccune Albright syndrome (mosaic G-protein signalling mutation)
14
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly duchennes) X-linked recessive deletion of dystrophin gene
15
Q
Cherry-red pot on macula
A
Tay-sachs (ganglioside accumulation) or Niemann-Pick (Sphingomyelin accumulation), central retinal artery occlusion
16
Q
Chest pain on exertion
A
Angina - stable; with moderate exertion
unstable; with minimal exertion
17
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler’s syndrome (AI mediated post-MI fibrinous pericarditis. 1-12 weeks after ACS)
18
Q
Child uses arms to stand up from squat
A
Gower’s sign (Duchenne muscular dystrophy)
19
Q
Child with fever develops red rash on face that spreads to body
A
Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)
20
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal dominant CAG repeat expansion)
21
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficiency
22
Q
Cold intolerance
A
hypothyroidism
23
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear opthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
24
Continuous machinery heart murmur
PDA (close with indomethacin)
| open or maintain with misoprostol
25
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypotyroidism, Graves' disease (pretibial)
26
Dark purple skin, mouth nodules
Kaposi's sarcoma (usually AIDS patients: associated with HHV8)
27
Deep, labored breathing/hyperventilation
kussmaul breathing (diabetic ketoacidosis)
28
Dermatitis, dementia, diarrhoea
Pellagra (niacin B3 deficiency)
29
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beri beri - vit B1 deficiency
30
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
31
Dry eyes, dry mouth, arthritis
Sjögren's syndrome (autoimmune destruction of exocrine glands)
32
Dysphagia (esophageal webs) glossitis, iron deficiency anaemia
Plummer-Vinson syndrome --> may progress to oesophageal SCC
33
Elastic skin, hypermobility of joints
Ehlers Danlos Syndrome (Type III collagen defect)
34
Enlarged, hard left supraclavirular node
Virchow's node (abdo metastases - stomach, pancreas)
35
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
36
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcaemia)
37
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
38
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
39
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
40
Fever, night sweats, weight loss
B symptoms (staging) of Lymphoma
41
Fibrous plaques in soft tissue of penis
Peyronie's disease (CT disorder)
42
Gout, mental retardation, self-mutilating behaviour in boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
43
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
44
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction)
incr cancer risk (mainly GI)
45
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
46
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation of alpha chain of collagen IV)
47
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-bucy syndrome (bilateral amygdala lesion)
48
Hyperreflexia, hypertonia, babinski sign present
UMN damage
49
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
50
hypoxemia, polycythaemia, hypercapnia
"blue bloater" chronic bronchitis, hyperplasia of mucous cells
51
Indurated, ulcerated genital lesion
nonpainful: chancre (primary syphilus, treponema pallidum)
painful, with exudate: chancroid (haemophilus ducreyi)
52
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactaly, cutis aplasia
Patau's syndrome (trisomy 13)
53
Infant with failure to thrive, hepatosplenomegaly and neurodegeneration
Niemann-pick disease (genetic sphingomyelinase deficiency)
54
Infant with hypoglycemia, failure to thrive and hepatomegaly
Cori's disease (debranching enzyme deficiency)
55
Infant with microcephaly, rocker-bottom feet, clenched hands and structural heart defect
Edwards' syndrome (trisomy 18)
56
Jaundice, palpable distended non-tender gallbladder
Courvoisier's sign (distal obstruction of biliary tree)
57
Large rash with bull's eye appearance
Erythema chronicum migrans from Ixodes tick bite (lymes disease: Borrelia)
58
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
59
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinaemia)
60
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation d/t lack of GP2b3a)
61
Muffled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
62
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
63
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lysosomal alpha1,4-glucosidase deficiency
64
Neonate with arm paralysis following difficult birth
Erb-duchenne palsy (superior trunk C5-6 brachial plexus injury: "waiter's tip")
65
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
66
Oscillation slow/fast breathing
Cheyne-stokes respirations (central apnea in CHF or Incr ICP)
67
Painful blue fingers/toes, haemolytic anaemia
Cold agglutinin disease (AI haemolytic anaemia caused by mycoplasma pneumonia, infectiuos mononucleosis)
68
Painful, pale, cold fingers/toes
Raynaud's phenomenon - vasospasm in extremity
69
Painful raised red lesion on pad of fingers or toes
Osler's node (infective endocarditis, immune complex deposition)
70
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
71
Painless jaundice
cancer of the head of pancreas obstructing bile duct
72
palpable purpura on buttocks/legs, joint pain, abdo pain (child), haematuria
Henoch-schonlein purpura (IgA vasculitis affecting skin and kidneys)
73
Pancreatic, pituitary, parathyroid tumours
MEN1 (autosomal dominant)
74
Periorbital and or peripheral oedema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
| PHAROH
75
Pink complexion, dyspnoea, hyperventilation
"Pink puffer"
| emphysema - centriacinar - smoking. Panacinar - alpha1-antitrypsin deficiency
76
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphataemic rickets
Fanconi syndrome (proximal tubular reabsorption defect
77
Positive anterior drawer sign
anterior cruciate ligament injury
78
pruritic, purple, polygonal planar papules and plaques
6Ps Lichen planus
79
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
80
pupil accommodates but doesnt react
Argyll Robertson pupil (neurosyphilis)
81
Rapidly progressive leg weaknes that ascends following GI or upper resp infetion
Guillian-barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
82
Rash on palms and soles
Coxsackie A, secondary syphilis or Rocky Mountain spotted fever
83
Recurrent colds, unusual eczema, high serum IgE
Hyper IgE syndrome (Job' syndrome: neutrophil chemotaxis abnormality)
84
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
85
Red "currant jelly" stools
Acute mesenteric ischaemia - adults
| intussusception - infants
86
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast
| reprsents underlying neoplasm
87
Red urine in the morning, fragile RBC's
Paroxysmal nocturnal haemoglobinuria
88
Renal cell carcinoma (bilateral, hemangioblastomas, angiomatosis, phaeochromocytoma
von Hippel Lindau disease
- dominant tumour suppressor gene mutation
89
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
90
Retinal haemorrhages with pale centres
Roth's spots - bacterial endocarditis
91
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinaemia)
92
Severe RLQ pain with palpation of LLQ
Rovsing's sign - acute appendicitis
93
Severe RLQ pain with rebound tenderness
Mcburney's sign - appendicitis
94
Short stature, incr incidence of tumours/leukaemia, aplastic anaemia
Fanconi's anaemia
| genetic loss of DNA cross link repair; often progresses to AML
95
single palmar crease
Simian crease - Down Syndrome trisomy 21
96
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome
| dynein arm defect affecting cilia
97
skin hyperpigmentation, hypotension, fatigue
Addison's disease
| primary adrenocortical insufficiency causes incr ACTH and incr alpha-MSH production
98
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy
| - X linked missense mutation in dystrophin; less severe than duchennes
99
small, irregular red spots on buccal/lingual mucosa with blue-white centres
Koplik spots
| - measles; rubeolar virus
100
smooth, flat, moist, painless white lesions on genitals
condylomata lata - secondary syphilis
101
splinter hemorrhage in fingernails
bacterial endocarditis
102
Strawberry tongue
Scarlet fever, kawasaki disease, toxic shock syndrome
103
Streak ovaries, congenital hear disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner's syndrome 45XO
104
Sudden swollen painful big toe joint, tophi
Gout + podagra - hyperuricaemia
105
swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy
| Vitamin C deficiency - cannot hydroxylate proline/lysine for collagen synthesis
106
Swollen, hard, painful finger joints
Osteoarthritis - osteophytes on PP (bouchard's) and DIP (herberden's nodes)
107
Systolic ejection murmur
crescendo-decrescendo murmur
| Aortic valve stenosis
108
Thyroid and parathyroid tumours, phaeochromocytoma
MEN 2A - autosomal dominant ret mutation
109
thyroid tumours, phaeochromocytoma, ganglioneuromatosis
MEN 2B - autosomal dominant ret mutation
110
Toe extension/fanning upon plantar scrape
Banbinski sign - UMN lesion
111
Unilateral facial drooping involving forehead
facial nerve LMN CNVII palsy
112
Urethritis, conjunctivitis, arthritis in male
Reactive arthritis associated with HLA B27 + STI
113
Vascular birthmark (port-wine stain)
Hemangioma - benign but associated with Sturge-weber syndrome
114
Vomitting blood following gastrooesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
115
weight loss, diarrhoea, arthritis, fever, adenopathy
Whipple's disease - tropheryma whipplei
116
Worst headache of my life
subarachnoid haemorrhage
