Path Key Points 3

Question 1

Diffuse large B cell lymphoma

Answer 1

Old people

Large lymphocytes

Question 2

SIADH

Answer 2

2 low in blood - sodium and osmolality
2 high in urine - sodium and osmolality
3 exclusions - renal/adrenal/thyroid/cardiac cause, hypovolaemia, contributing drugs

Question 3

AIHA

Answer 3

Warm - IgG mediated - lymphoproliferative disease, drugs (penicillins), autoimmune diseases (SLE)
Cold - IgM mediated - mycoplasma/EBV
DAT +ve + spherocytes

Question 4

Common variable immunodeficiency syndrome

Answer 4

Adults
MHC III mutation
Low B cells, Ig A & G
Also have autoimmune conditions

Question 5

Chronic granulomatous disease

Answer 5

X-linked
Chronic inflammation with non-caseating granuloma
Niotroblue tetrazolium negative

Question 6

Bare lymphocyte syndrome

Answer 6

Low MHC I/II

Sclerosing cholangitis + hepatomegaly + jaundice

Question 7

Selective IgA deficiency

Answer 7

Mild respiratory and gastro infections

Linked to RA and SLE

Question 8

Reticular dysgenesis

Answer 8

No granulocytes and lymphocytes
Sepsis few days after birth
AKA SCID

Question 9

Interferon gamma deficiency

Answer 9

No granulomas

Mycobacterium and salmonella infections

Question 10

Goodpasture’s disease

Answer 10

Respiratory feature - haemoptysis, dyspnoea, cough
Renal features - haematuria, AKI, nephrotic syndrome
IgG in basement membrane

Question 11

Di George syndrome

Answer 11

22q11 deletion
Cardiac abnormalities + atresia + thymic aplasia + cleft palate + hypocalcaemia
Low CD4, CD8, IgG, gA

Question 12

Rabies

Answer 12

Progressive encephalitis + hydrophobia + muscle spasm

Question 13

Q fever

Answer 13

Coxiella burnetti

Inhalation of urine/faeces of infected livestock

Question 14

Cat scratch disease

Answer 14

Bartonella species
Bites from cats
Tender and swollen lymph nodes + headache + backache

Question 15

Kala azar

Answer 15

Visceral leishmaniasis
Fever + splenomegaly
Hepatomegaly, hyperpigmentation, dry warty skin

Question 16

Cutaneous leishmaniasis

Answer 16

Itchy papule at bite site –> ulcer with raised edges

Question 17

Brucellosis

Answer 17

Brucella abortis
Unsterilised milk/cheese
Fever, muscle and joint pain, weight loss, fatigue, sacroilitis, depression
Mx - amoxicillin and doxycycline for 6 weeks

Question 18

Lyme disease

Answer 18

Borrelia burgdorferi
Local - erythema chronicum migrans (red papule/macule –> target lesion), fever, headache
Disseminated - peripheral neuropathy, erythema chronicum migrans, cranial nerve palsies, arthritis
Late - persistent arthritis, chronic encephalitis
Mx - oral doxycycline

Question 19

Sporadic CJD

Answer 19

Rapidly progressing dementia at 65, lower motor neuron signs, akinetic mutism, myoclonus, cortical blindness
LP for 14-3-3 protein
EEG - generalised triphasic sharp complexes

Question 20

Variant CJD

Answer 20

26 years
Initially psych feature –> ataxia, dementia, myoclonus
MRI - positive pulvinar sign
EEG - normal