Multisystem

Question 1

Lysosomal storage disorder
Ashkenazi Jews
HSM
Anaemia and thrombocytopaenia
Erlenmeyer flask deformity
Osteopaenia and osteonecrosis
Pathological#
H shaped vertebrae
Paranasal sinus expansion due to medullary expansion

Answer 1

Gauchers

Question 2

Oral and genital ulceration
Ocular manifestations
PA aneurysm
Chronic inflammatory vasculitis
20-30yo

Answer 2

Behcet

Question 3

Dextrocardia
Bronchiectasis
Sinusitis
(Primary ciliary dyskinesia)

Answer 3

Kartageners

Question 4

Fibrofolliculomas
Lung cysts and spontaneous pneumothorax
Increased risk of renal tumours (chromophobe oncocytomas and carcinomas)

Answer 4

Birt-Hogg-Dube

Question 5

Pituitary adenoma
Frontal bossing
Posterior vertebral body scalloping, spade like tufts, reduced interpedicular space
Increased heel pad thickness

Answer 5

Acromegaly

Question 6

NF1; marfans;Elhers Danlos;Ank spond all have what vertebral abnormality?

Answer 6

Increased interpedicular space

Question 7

Which stage of lymphoma is both sides of the diaphragm?

Answer 7

3

Question 8

What syndrome is associated with:
Fever/Malaise/Arthritis/Lymphadenopathy/Erythema nodosum

(Eponymous term for acute sarcoid)

Answer 8

Lofgren

Question 9

Lower lobe emphysema and bronchiectasis ; liver cirrhosis ; asthma ; panniculitis ; pancreatitis

Answer 9

α -1 antitrypsin

Question 10

Fat density LN
Migratory arthritis
WL
Diarrhoea
Abdo pain

Answer 10

Whipples