MRCP part 2 > pattern recognition for conditions > Flashcards

pattern recognition for conditions Flashcards

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1
Q

Young woman, palpitations, mid-systolic click + late systolic murmur

A

Mitral valve prolapse.

Management
asymptomatic MVP discovered incidentally with no or mild MR requires no follow-up or treatment
no antibiotic prophylaxis or activity restrictions are required
refer to cardiology if moderate/severe MR, arrhythmias, or risk factors for sudden cardiac death are present

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2
Q

Marfan, tall male, sudden tearing chest pain → widened mediastinum

A

Aortic dissection.

Stanford classification
type A - ascending aorta, 2/3 of cases
type B - descending aorta, distal to left subclavian origin, 1/3 of cases

Type A
surgical management, but blood pressure should be controlled to a target systolic of 100-120 mmHg whilst awaiting intervention

Type B*
conservative management
bed rest
reduce blood pressure IV labetalol to prevent progression

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3
Q

Dialysis patient, pericardial rub, widespread saddle-shaped ST elevation

A

Pericarditis

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4
Q

Post-MI, new pansystolic murmur, pulmonary oedema

A

papillary muscle rupture (MR).

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5
Q

Young woman, recurrent pneumothorax, diffuse lung cysts

A

Lymphangioleiomyomatosis

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6
Q

Smoker, nodules + cysts in upper lobes

A

Langerhans cell histiocytosis.

Features
bone pain, typically in the skull or proximal femur
cutaneous nodules
pituitary involvement: leads to diabetes insipidus due to pituitary stalk involvement
pulmonary involvement: More common in adults, presenting with dyspnoea, cough, and chest pain
recurrent otitis media/mastoiditis
tennis racket-shaped Birbeck granules on electromicroscopy

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7
Q

Farmer, breathlessness, type III hypersensitivity?

A

Extrinsic allergic alveolitis (Farmer’s lung).

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8
Q

Coal worker, progressive massive fibrosis, upper lobes

A

Coal worker’s pneumoconiosis.

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9
Q

Elderly, clubbing, bilateral basal crackles, honeycombing

A

diopathic pulmonary fibrosis.

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10
Q

Unilateral headache, lacrimation, rhinorrhoea, young male

A

Cluster headache

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11
Q

Weakness worse with use, improves with rest; ptosis, diplopia

A

Myasthenia gravis.

single fibre electromyography: high sensitivity (92-100%)
antibodies to acetylcholine receptors

long-acting acetylcholinesterase inhibitors
pyridostigmine is first-line

Management of myasthenic crisis
plasmapheresis
intravenous immunoglobulins

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12
Q

Weakness improves with exercise; areflexia, ptosis

A

Lambert–Eaton

diagnosis - EMG

antibody directed against presynaptic voltage-gated calcium channel in the peripheral nervous system.

Management
treatment of underlying cancer
immunosuppression, for example with prednisolone and/or azathioprine
3,4-diaminopyridine is currently being trialled
works by blocking potassium channel efflux in the nerve terminal so that the action potential duration is increased. Calcium channels can then be open for a longer time and allow greater acetylcholine release to the stimulate muscle at the end plate
intravenous immunoglobulin therapy and plasma exchange may be beneficial

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13
Q

Headache, temporal tenderness, jaw claudication, raised ESR

A

Temporal arteritis

typically patient > 60 years old
usually rapid onset (e.g. < 1 month)
headache (found in 85%)
jaw claudication (65%)
tender, palpable temporal artery
around 50% have features of PMR: aching, morning stiffness in proximal limb muscles (not weakness)

vision testing is key in all patients
Raised ESR
Temporal artery biospy
Temporal artery doppler

Tx - high dose steroids as soon as diagnosis suspected

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14
Q

Confusion, ataxia, ophthalmoplegia in alcoholic

A

Wernicke’s encephalopathy

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15
Q

Elderly, lymphocytosis, smudge cells

A

CLL

Diagnosis is with immunophenotyping

full blood count:
lymphocytosis
anaemia: may occur either due to bone marrow replacement or autoimmune hemolytic anaemia (AIHA)
thrombocytopenia: may occur either due to bone marrow replacement or immune thrombocytopenia (ITP)

Tx patients who have no indications for treatment are monitored with regular blood counts
fludarabine, cyclophosphamide and rituximab (FCR) has now emerged as the initial treatment of choice for the majority of patients
ibrutinib may be used in patients who have failed a previous therapy

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16
Q

Splenomegaly, very high WCC, basophilia, Philadelphia chromosome

A

CML

Diagnosis - bone marrow aspirate and cytogenics

Management
imatinib is now considered first-line treatment

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17
Q

Auer rods, DIC

A

AML

Acute myeloid leukaemia is the more common form of acute leukaemia in adults. It may occur as a primary disease or following a secondary transformation of a myeloproliferative disorder.

Diagnosis - Bone marrow aspiration

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18
Q

Child, mediastinal mass, pancytopenia

A

ALL

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19
Q

Tear-drop poikilocytes, massive splenomegaly

A

Myelofibrosis

Ix - bloods and bone marrow biopsy

Management
Ruxolitinib is a JAK2 inhibitor and may be used to manage both splenomegaly and constitutional symptoms
Blood transfusions comprise the mainstay of management for anaemia.

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20
Q

Hypertension + hypokalaemia, metabolic alkalosis

A

Conn’s (primary hyperaldosteronism).

Ix - aldosterone/renin
High resolution CT and adrenal vein sampling

Management
adrenal adenoma: surgery (laparoscopic adrenalectomy)
bilateral adrenocortical hyperplasia: aldosterone antagonist e.g. spironolactone

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21
Q

Palpitations, headache, sweating

A

Phaeochromocytoma

Tests
24 hr urinary collection of metanephrines (sensitivity 97%)
this has replaced a 24 hr urinary collection of catecholamines (sensitivity 86%)

Surgery is the definitive management. The patient must first however be stabilized with medical management:
alpha-blocker (e.g. phenoxybenzamine), given before a
beta-blocker (e.g. propranolol)

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22
Q

Short 4th/5th metacarpals, hypocalcaemia?

A

Pseudohypoparathyroidism

Bloods
↑ PTH
↓ calcium
↑ phosphate

Features
short fourth and fifth metacarpals
short stature
learning difficulties
obesity
round face

Investigation
an infusion of PTH followed by measurement of urinary phosphate and cAMP measurement - this can help differentiate between type I (neither phosphate or cAMP levels rise) and II (cAMP rises but phosphate levels do not change)

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23
Q

Amenorrhoea, anosmia

A

Kallman’s

eatures
‘delayed puberty’
hypogonadism, cryptorchidism
anosmia
sex hormone levels are low
LH, FSH levels are inappropriately low/normal
patients are typically of normal or above-average height

Tx
testosterone supplementation
gonadotrophin supplementation may result in sperm production if fertility is desired later in life

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24
Q

Tall male, small testes, gynaecomastia

A

Klinefelter’s

Klinefelter’s syndrome is associated with karyotype 47, XXY.

Features
often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels but low testosterone

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25
Young man, haematuria after URTI, normal complement
IgA Nephropathy ## Footnote histology: mesangial hypercellularity, positive immunofluorescence for IgA & C3 Management isolated hematuria, no or minimal proteinuria (less than 500 to 1000 mg/day), and a normal glomerular filtration rate (GFR) no treatment needed, other than follow-up to check renal function persistent proteinuria (above 500 to 1000 mg/day), a normal or only slightly reduced GFR initial treatment is with ACE inhibitors if there is active disease (e.g. falling GFR) or failure to respond to ACE inhibitors immunosuppression with corticosteroids
26
Nephrotic syndrome, hepatitis B
Membranous nephropathy. ## Footnote Other causes idiopathic: due to anti-phospholipase A2 antibodies infections: hepatitis B, malaria, syphilis malignancy (in 5-20%): prostate, lung, lymphoma, leukaemia drugs: gold, penicillamine, NSAIDs autoimmune diseases: systemic lupus erythematosus (class V disease), thyroiditis, rheumatoid Tx ARB Immunosupression
27
Haematuria, deafness, male child
Alpots syndrome ## Footnote renal biopsy: splitting of lamina densa seen on electron microscopy renal biopsy electron microscopy: characteristic finding is of the longitudinal splitting of the lamina densa of the glomerular basement membrane, resulting in a 'basket-weave' appearance
28
Haematuria, flank mass, varicocele in older male
Renal cell carcinoma.
29
Rust-coloured sputum
Pneumococcal pneumonia
30
Currant jelly sputum, alcoholic, cavitating pneumonia?
Klebsiella
31
HIV + meningitis with raised ICP, soap-bubble basal ganglia lesions
Cryptococcus
32
Birbeck granules (tennis racket EM)
Langerhans cell histiocytosis.
33
Ash-leaf spots, renal angiomyolipomas
Tuberous sclerosis.
34
Cafe-au-lait + neurofibromas
NF1.
35
Bilateral vestibular schwannomas
NF2
36
Starry-sky histology, jaw mass
Burkitt lymphoma.
37
Traveller, steatorrhoea, PAS-positive macrophages
Whipple’s disease. ## Footnote Whipple's disease is a rare multi-system disorder caused by Tropheryma whippelii infection. Management guidelines vary: oral co-trimoxazole for a year is thought to have the lowest relapse rate, sometimes preceded by a course of IV penicillin
38
Anaemia + dysphagia + oesophageal web
Plummer–Vinson syndrome.
39
Polyposis + jaw cysts + osteomas
Gardner syndrome
40
Young woman, optic neuritis + internuclear ophthalmoplegia
MS
41
Parkinsonism + vertical gaze palsy
Progressive supranuclear palsy.
42
Hemiballismus, sudden flinging movements
Subthalamic nucleus lesion.
43
Ataxia, telangiectasia, immunodeficiency
Ataxia–telangiectasia. ## Footnote Features cerebellar ataxia telangiectasia (spider angiomas) IgA deficiency resulting in recurrent chest infections 10% risk of developing malignancy, lymphoma or leukaemia, but also non-lymphoid tumours
44
Port-wine stain + seizures + glaucoma
Sturge–Weber syndrome.
45
Cafe-au-lait + axillary freckling + optic glioma
NF1 ## Footnote Cafe-au-lait spots (>= 6, 15 mm in diameter) Axillary/groin freckles Peripheral neurofibromas Iris hamatomas (Lisch nodules) in > 90% Scoliosis Pheochromocytomas
46
Kayser–Fleischer rings + low caeruloplasmin
Wilson's disease ## Footnote **Management** penicillamine (chelates copper) has been the traditional first-line treatment trientine hydrochloride is an alternative chelating agent which may become first-line treatment in the future tetrathiomolybdate is a newer agent that is currently under investigation
47
Chorea, behavioural changes, dementia?
Huntington's ## Footnote AD Trinucleotide repeat disorder results in degeneration of cholinergic and GABAergic neurons in the striatum of the basal ganglia due to defect in huntingtin gene on chromosome 4 Features typical develop after 35 years of age chorea personality changes (e.g. irritability, apathy, depression) and intellectual impairment dystonia saccadic eye movements Tetrabenazine is the first-line treatment for chorea in HD. Deutetrabenazine and valbenazine are alternatives if tetrabenazine is not tolerated. Antipsychotics such as olanzapine or risperidone can be used to manage psychosis and also have anti-chorea effects. For patients with bradykinesia or rigidity, consider a trial of levodopa.
48
Tall, arachnodactyly, lens subluxation up
Marfan's ## Footnote **Marfan's syndrome is an autosomal dominant connective tissue disorder. It is caused by a defect in the FBN1 gene on chromosome 15 that codes for the protein fibrillin-1. **
49
downward's lens dislocation and thrombosis
Homocystinuria ## Footnote Homocystinuria is a rare autosomal recessive disease caused by a deficiency of cystathionine beta synthase. This results in severe elevations in plasma and urine homocysteine concentrations. Features often patients have fine, fair hair musculoskeletal Marfanoid body habitus: arachnodactyly etc osteoporosis kyphosis neurological: may have learning difficulties, seizures ocular downwards (inferonasal) dislocation of lens severe myopia increased risk of arterial and venous thromboembolism also malar flush, livedo reticularis Investigations increased homocysteine levels in serum and urine cyanide-nitroprusside test: also positive in cystinuria Treatment is vitamin B6 (pyridoxine) supplements.
50
Infant with cherry-red spot, neurodegeneration
Tay–Sachs. ## Footnote Accumulation of GM2 ganglioside within lysosomes. Key features include developmental delay, cherry red spot on the macula, liver and spleen normal size (cf. Niemann-Pick)
51
nfant with hepatosplenomegaly + cherry-red spot
Niemann–Pick.
52
Child with coarse facies, gargoyle features, corneal clouding
Hurler’s syndrome.
53
Elderly, pancytopenia, macrocytosis, dysplastic cells
Myelodysplastic syndrome. ## Footnote risk of progression to AML MDS can present with various symptoms related to the underlying cytopenias. Common presentations include fatigue, weakness, and pallor due to anaemia; recurrent infections due to neutropenia; and easy bruising or bleeding due to thrombocytopenia. Some patients may be asymptomatic and are diagnosed incidentally on routine blood counts.
54
JAK2 mutation, pruritus after hot bath, thrombosis
Polycythaemia vera. ## Footnote Polycythaemia vera (previously called polycythaemia rubra vera) is a myeloproliferative disorder caused by clonal proliferation of a marrow stem cell leading to an increase in red cell volume, often accompanied by overproduction of neutrophils and platelets. Management aspirin reduces the risk of thrombotic events venesection first-line treatment to keep the haemoglobin in the normal range chemotherapy hydroxyurea - slight increased risk of secondary leukaemia phosphorus-32 therapy
55
↑ Platelets, splenomegaly, thrombotic/bleeding risk
Essential thrombocythaemia
56
Reed–Sternberg cells, mediastinal mass
Hodgkin lymhoma
57
Starry-sky histology, jaw mass
Burkitt lymphoma (c-myc translocation).
58
Malar rash, photosensitivity, ANA+, dsDNA+
SLE ## Footnote Tx Basics NSAIDs sun-block Hydroxychloroquine the treatment of choice for SLE
59
Proximal muscle weakness, raised CK, heliotrope rash
Dermatomyositis ## Footnote the majority of patients (around 80%) are ANA positive around 30% of patients have antibodies to aminoacyl-tRNA synthetases (anti-synthetase antibodies), including: antibodies against histidine-tRNA ligase (also called Jo-1) antibodies to signal recognition particle (SRP) anti-Mi-2 antibodies Managament - prednisolone
60
Positive Schirmer’s test, dry eyes + mouth
Sjögren’s syndrome. ## Footnote Investigation rheumatoid factor (RF) positive in nearly 50% of patients ANA positive in 70% anti-Ro (SSA) antibodies in 70% of patients with PSS anti-La (SSB) antibodies in 30% of patients with PSS Schirmer's test: filter paper near conjunctival sac to measure tear formation histology: focal lymphocytic infiltration also: hypergammaglobulinaemia, low C4 Management artificial saliva and tears pilocarpine may be helpful to stimulate saliva production
61
Nephrotic syndrome, spike and dome, HBV
Membranous nephropathy
62
Nephrotic syndrome, Congo red + apple-green birefringence
amyloidosis
63
Oliguria, haematuria, red cell casts
Rapidly progressive GN.
64
Diastolic murmur in pregnancy
Always pathological (usually mitral stenosis)
64
Young smoker, claudication, absent distal pulses
Buerger’s disease
65
Bronchiectasis, male infertility, sinusitis
Kartagener’s (primary ciliary dyskinesia)
66
Cyanosis, Hb precipitation after oxidant stress, bite cells
G6PD deficiency ## Footnote Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest red blood cell enzyme defect. Heinz bodies Some drugs causing haemolysis anti-malarials: primaquine ciprofloxacin sulph- group drugs: sulphonamides, sulphasalazine, sulfonylureas Some drugs thought to be safe penicillins cephalosporins macrolides tetracyclines trimethoprim
67
Recurrent infections, albinism, giant granules in neutrophils
Chediak–Higashi syndrome
68
Nodular pulmonary fibrosis + rheumatoid arthritis
Caplan’s syndrome
69
Hepatitis C, cryoglobulins, low C4
Membranoproliferative GN
70
Meningitis + cranial nerve palsies + basal meningeal enhancement
TB meningitis
71
Traveler, eosinophilia, hepatosplenomegaly, haematuria
Schistosomiasis ## Footnote parasitic flatworm infection. The three main species of schistosome are S. mansoni, S. japonicum and S. haematobium. Management single oral dose of praziquantel
72
Sheep/dog farmer, liver cyst, risk of rupture
Echinococcus (hydatid cyst)
MRCP part 2
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