Presentations Flashcards
(126 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Abdominal pain, diarrhoea, leucocytosis, recent antibiotic use
A
C Diff infection
3
Q
Achilles tendon xanthoma
A
Familial hypercholesterolaemia
reduced LDL receptor signalling
4
Q
Adrenal haemorrhage, 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
Arachnodactyly, lens dislocation (upward), aortic dissection, hyper flexible joints
A
Marfan syndrome (Fibrillin defect)
8
Q
Athlete with polycythaemia
A
Secondary to Epo injection
9
Q
Back pain, fever, night sweats
A
Potts disease (spinal 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
Blueish line on gingiva
A
Burton line (lead poisoning)
15
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of the bone (Increased osteoblastic and osteoclastic activity)
16
Q
Pounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
A
Aortic regurgitation
17
Q
Butterfly facial rash and Raynaud phenomena and in a young female
A
SLE
18
Q
Cafe au lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, phaeochromocytomas, 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 aspirin
22
Q
Cherry red spots on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann Pick (sphingomyelin accumulation), central retinal artery occlusion
23
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)
24
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dresler syndrome (autoimmune mediated post MI fibrinous pericarditis, two weeks to several months after acute episode)
25
Chest pain with ST depression is on the ECG
Unstable angina (Negative troponins) or
NSTEMI (positive troponins)
26
Child uses arms to stand up from squat
Duchenne muscular dystrophy (Gowers sign)
27
Child with a fever later develops red rash on face that spreads to body
Erythema infectiosum/ 5th disease
| Slapped cheek 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 ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
33
Continuous machine like heart murmur
PDA
Close with indomethacin; keep open with PGE analogues
34
Cutaneous/dermal oedema due to connective-tissue deposition
Myxoedema (caused by hypothyroidism, Graves’ disease [pretibial])
35
Cutaneous flushing, diarrhoea, bronchospasm
Carcinoid syndrome (right-sided cardiac valve lesions, increased 5-IHAA)
36
Dark purple skin or mouth nodules in a patient with AIDS
Kaposi’s sarcoma, associated with HHV8
37
Deep, laboured breathing or hyperventilation
DKA (Kussmaul respirations)
38
Dermatitis, dementia, diarrhoea
Pellagra (niacin [vit B3] deficiency)
39
Dilated cardiomyopathy, oedema, alcoholism or malnutrition
Wet beriberi (thiamine [vit B1] deficiency)
40
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
41
Dry eyes, dry mouth, arthritis
Sjögren’s syndrome (autoimmune destruction of exocrine glands)
42
Dysphagia (oesophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to oesophageal squamous cell carcinoma)
43
Elastic skin, hypermobility of joints, increased bleeding tendency
Ehlers-Danlos syndrome (type 5 collagen defect)
Type 3 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 fungoides (cutaneous T cell lymphoma) or
Sézary syndrome (mycosis fungoides + malignant T cell in blood)
47
Facial muscle spasm upon tapping
Chvostek sign (hypocalcaemia)
48
Fat, female, 40, fertile
Colelithiasis (gallstones)
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 the soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
53
Golden brown rings around peripheral cornea
Wilson disease (Kaiser Fleischer rings due to cope accumulation)
54
Gout, intellectual disability, self mutilating behaviour in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
55
Hamartomous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
56
Hepato-splenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen 4)
58
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Klüver-Bucy syndrome (bilateral amygdala lesion)
59
Hyper reflexia, hypertonia, Babinski sign present
UMN lesion
60
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN lesion
61
Hypoxaemia, polycythaemia, hypercapnia
Chronic bronchitis (hyperplasia of mucus cells, blue bloater)
62
Indurated, ulcerated genital lesion
Non painful: chancre (primary syphillis, Treponema pallidum)
Painful with exudate: chancroid (Haemophilus ducreyi)
63
Infant with cleft lip and palate, microcephaly or holoprosencephaly, polydactyly, curtis aplasia
Patau syndrome (trisomy 13)
64
Infant with hypoglycaemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or
Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
65
Infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
66
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distant malignant obstruction of biliary tree)
67
Large rash with bull’s-eye appearance
Erythema chronicum migrans from Ixodes tick bite
Lyme disease (Borrelia)
68
Lucid interval after traumatic brain injury
Epidural haematoma (middle meningeal artery rupture)
69
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinaemia)
70
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
71
Muffled heart sounds, distended neck pains, hypotension
Beck triad of cardiac tamponade
72
Multiple colon polyps, osteomas or soft tissue tumours, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
73
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal a-1,4 glucosidase deficiency)
74
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiters tip”)
75
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
76
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple Sclerosis
77
Painful blue fingers or toes, haemolytic anaemia
Cold agglutinin disease (autoimmune haemolytic anaemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
78
Painful fingers and toes, changing colour from white to blue to red with cold or stress
Raynaud phenomena (vasospasm in extremities)
79
Painful, raised red lesions on pads of fingers and toes
Older nodes (infective endocarditis, immune complex deposition)
80
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis , septic emboli/microabscesses)
81
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
82
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), haematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
83
Pancreatic, pituitary, parathyroid tumours
MEN 1 (autosomal dominant)
84
Periorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolaemia
Nephrotic syndrome
85
Pink complexion, dyspnoea, hyperventilation
Emphysema (pink puffer, centriacinar [smoking], panacinar [a1- antitrypsin deficiency])
86
Polyuria, renal tubular acidosis Type II, growth failure, electrolyte and balances, hypophosphataemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
87
Pruritic, purple, polygonal planar papules and plaques (6 Ps)
Lichen planus
88
Ptosis, miosis, anhidrosis
Horners syndrome (sympathetic chain lesion)
89
People accommodate but doesn’t react
Neurosyphilis (Argyll Robertson pupil)
90
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
91
Rash on palms and soles
Coxsackie A, secondary syphillis, Rocky Mountain spotted fever
92
Recurrent cold (non inflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
93
Red currant jelly sputum an alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
94
Red currant jelly stools
Acute mesenteric ischaemia (adults), intussusception(children)
95
Red, itchy, swollen rash of nipple/ areola
Paget disease of the breast (sign of underlying neoplasm)
96
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal haemoglobinuria
97
Renal cell carcinoma (bilateral), haemangioblastomas, angiomatosis, phaeochromocytoma
Von Hippel-Lindau disease (dominant tumour suppressor gene mutation)
98
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta )
99
Retinal haemorrhages with pale centres
Roth spots (bacterial endocarditis)
100
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinaemia)
101
Severe RLQ pain with palpating of LLQ
Rovsing sign (acute appendicitis)
102
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
103
Short stature, café au lait spots, thumb/ radial defects, increased incidence of tumours and leukaemia, aplastic anaemia
Fanconi anaemia (genetic loss of DNA crosslink repair; often progresses to AML)
104
Single palmar crease
Down syndrome
105
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
106
Skin hyper pigmentation, hypotension, fatigue
Primary adrenocortical insufficiency (eg Addison disease causes high ACTH and high a-MSH production )
107
Slow, progressive muscle muscle weakness in boys
Becker muscular dystrophy ( X-linked missense mutation in dystrophin; less severe than Duchenne)
108
Small, regular red spots on buccal/lingual mucosa with blue white centres
Koplik spots (measles [rubeola] virus)
109
Smooth, moist, painless, wart like white lesions on genitals
Condylomata lata (secondary syphillis)
110
Splinter haemorrhages in fingernails
Bacterial endocarditis
111
Strawberry tongue
Scarlet fever
Kawasaki disease
112
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, web neck, lymphoedema
Turner syndrome (45, XO)
113
Sudden swollen/painful big toe joint, tophi
Gout or podagra (hyperuricaemia)
114
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/ lysine for collagen synthesis)
115
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [bouchard nodes], DIP [herbedens nodes])
116
Systolic injection murmur (Cresendo decrescendo)
Aortic stenosis
117
Telangiectasias, recurrent epistaxis, skin discolouration, arteriovenous malformations, GI bleeding, haematuria
Osler-Weber-Rendu syndrome (hereditary haemorrhagic telangiectasia)
118
Thyroid and parathyroid tumours, phaeochromocytoma
MEN 2A (autosomal dominant RET mutation)
119
Thyroid tumours, phaeochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
120
Toe extension or fanning upon plantar scrape
Babinski sign (UMN lesion)
121
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy
UMN lesions spare the forehead
122
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B 27
123
Vascular birthmark (portwine stain) of the face
Nevis flammeus (benign, but associated with Sturge-Weber syndrome)
124
Vomiting blood following gastro-oesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
125
Weight loss, diarrhoea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
126
“Worst headache of my life “
Subarachnoid haemorrhage
