Pathology

Question 1

Name the lysosomal storage diseases

Answer 1

fabrys
gauchers
tay-sachs
metachromatic leukodystrophy
krabbes
neilmann pick disease

Question 2

in a patient with new onset status epilepticus what are the first differentials to rule out for the cause

Answer 2

hypoxia and hypoglycamia

Question 3

what type of bacterial are neissieria meningitidis

Answer 3

gram negative diplococci

Question 4

whats the most common complication of meningitis

Answer 4

sensorineural hearing loss

Question 5

metachromatic leukodystrophy presentation and deficient enzyme

Answer 5

progressive deterioration of muscle function and speech
central and peripheral demyelination with

deficient enzyme - arylsulfatase A (cerebroside sulphate accumulates as a result)

Question 6

taysach’s presentation and deficient enzyme

Answer 6

neurological impairment
cherry red spot in macula
no hepatosplenomegaly

deficient enzyme - B hexosaminidase A (accumulation of GM2 gangliosides)

Question 7

onion skin appearance of lysosomes on histopathology

Answer 7

tay-sachs

Question 8

gauchers presentation and deficient enzyme

Answer 8

hepatosplenomegly, avascular necrosis, bone crisis, osteopenia, pancytopenia

B glucocerebrosidase (accumulation of glucocerebroside)

Question 9

lipid laden macrophages resembling crumbled tissue paper

Answer 9

gauchers

Question 10

krabbes disease presentation and deficient enzyme

Answer 10

development delay, destruction of oligodendrocytes, peripheral neuropathy, globoid cells, CN II atrophy

galactocerebrosidase (accumulation of galactocerebroside)

Question 11

neilman pick disease presentation and deficient enzyme

Answer 11

progressive neurodegeneration, cherry red spot in macula, hepatomegaly, foam cells (lipid laden macrophages)
syringomyelinase (accumulation of

Question 12

tay sachs vs neilman pick disease

Answer 12

both cerry red spot in macula
both neurodegeneration
tay sachs - normal liver
neilman pick - hepatomegaly

Question 13

fabrys presentation and deficient enzyme

Answer 13

Fabry and Harry party Really Careful
Hypohidrosis, Angiokeratomas, Peripheral neuropathy
late- Renal and CVS disease

alpha- galactosidase (accumulation of ceramide trihexoside)

Question 14

hippocampal atrophy

Answer 14

alzheimers disease

Question 15

pathphysiology of intraventricular haemorrhage

Answer 15

origionates in germinal matrix within subventricular zone
due to reduced glial fiber support and impaired autoregulation of BP in premature inflants

Question 16

how would post-meningitidis cause hydrocephalus

Answer 16

meningeal scarring can result in decreased absorption of CSF from the arachnoid villi

Question 17

artery affected in lateral medullary syndrome

Answer 17

vertebral artery of posterior inferior cerebellar artery

Question 18

latera medullar syndrome features

Answer 18

dont picc (posterior inferior cerebellar artery) a lame (lateral medullary syndrome) horse (hoarsness) that cant eat (dysphagia)

hoarsness
reduced gag reflex, hiccups
vomiting,, vertigo, nystagmus, pain an temperature in contralateral body, ipsilateral face
ipsilateral horner syndrome (miosis, ptosis, anhydrosis)

Question 19

artery affected in weber syndrome

Answer 19

posterior cerebral artery

Question 20

weber syndrome

Answer 20

ipsilateral CN III lesion, contralateral hemiparesis

Question 21

stroke with mainly facial nerve defects

Answer 21

lateral pontine syndrome
anterior inferior cerebellar artery

Question 22

artery affected in medial medullary syndrome

Answer 22

anterior spinal artery

Question 23

medial medullary syndrome

Answer 23

caused by stroke of the anterior spinal artery
(ants love M&M) –> medial medullar - anterior spinal artery

contralateral paresis and reduced propriocepion + vibration
ipsilateral hypoglossal dysfunction (tongue deviates ipsilaterally)

Question 24

stroke causing tongue to deviate to the right –> cause?

Answer 24

medial medullary syndrome - stroke of anterior spinal artery (right sided –> ipsilateral hypoglossal dysfunction)

Question 25

hemineglect - area and artery affected

Answer 25

hemineglect occurs due to lesion of non-dominant parietal lobe MCA infarct

Question 26

WHAT TYPE OF HYPERSENSITIVITY REACTION OF MYAESTHENIA GRAVIS

Answer 26

type II

Question 27

what neural tract is affected if there is hyperprolactinaemia

Answer 27

tuberoinfundibular tract

Question 28

features of tuberous sclerosis

Answer 28

present with a clinical syndrome including seizures, benign hamartomas, subependymal brain tumors, intellectual disability, renal angiomyolipomas, cardiac rhabdomyomas, astrocytomas, pulmonary lymphangioleiomyomatosis, and cutaneous manifestations such as hypopigmented ash-leaf spots

Question 29

tuberous sclerosis is caused by a gene on what chromososm e

Answer 29

autosomal dominant - chromosome 9 and 16

Question 30

horners syndrome is caused by damage to what type of neuron

Answer 30

second order preganglionic sympathetic neuron

Question 31

CT findings in huntingtons

Answer 31

caudate atrophy and widening of lateral ventricles

Question 32

what type of bacteria is campylobacteria

Answer 32

curved, oxidase positive, gram negative bacteria

Question 33

what type of bacteria is botulinum

Answer 33

rod shaped, gram positive, spore forming bacteria

Question 34

neural tube defects can occur due to deficiency in what vitamin in utero

Answer 34

folic acid

Question 35

what type of hypersensitivity reaction of guillian barre

Answer 35

type IV hypersensitivity

Question 36

what order neurone is damaged in lateral medullary syndrome causing horners

Answer 36

1st order neurone of recurrent laryngeal nerve

Question 37

rapid onset of muscle weakness and difficulty in speech with regression in development

Answer 37

metachromatic leukodystrophy (arylsulphatase A enzyme)

Question 38

associated causes of syringomyelia?

Answer 38

syrinx in spinal cord can be associated with chiari malformation or trauma, infection or tumours

Question 39

fluid filled gliosis-lined cavity within spinal cord

Answer 39

syringomyelia

Question 40

what tract is damaged first in syringomyelia and how would this present

Answer 40

spinothalamic tract - 'cape like' loss of pain and temperature as it expands may damage anterior horn = LMN

Question 41

formation of toxin gain-of-function polyglutamate aggregates

Answer 41

huntingtons

Question 42

loss of function due to promoter methylation

Answer 42

fragile x