Pathology Flashcards
Name the lysosomal storage diseases
fabrys
gauchers
tay-sachs
metachromatic leukodystrophy
krabbes
neilmann pick disease
in a patient with new onset status epilepticus what are the first differentials to rule out for the cause
hypoxia and hypoglycamia
what type of bacterial are neissieria meningitidis
gram negative diplococci
whats the most common complication of meningitis
sensorineural hearing loss
metachromatic leukodystrophy presentation and deficient enzyme
progressive deterioration of muscle function and speech
central and peripheral demyelination with
deficient enzyme - arylsulfatase A (cerebroside sulphate accumulates as a result)
taysach’s presentation and deficient enzyme
neurological impairment
cherry red spot in macula
no hepatosplenomegaly
deficient enzyme - B hexosaminidase A (accumulation of GM2 gangliosides)
onion skin appearance of lysosomes on histopathology
tay-sachs
gauchers presentation and deficient enzyme
hepatosplenomegly, avascular necrosis, bone crisis, osteopenia, pancytopenia
B glucocerebrosidase (accumulation of glucocerebroside)
lipid laden macrophages resembling crumbled tissue paper
gauchers
krabbes disease presentation and deficient enzyme
development delay, destruction of oligodendrocytes, peripheral neuropathy, globoid cells, CN II atrophy
galactocerebrosidase (accumulation of galactocerebroside)
neilman pick disease presentation and deficient enzyme
progressive neurodegeneration, cherry red spot in macula, hepatomegaly, foam cells (lipid laden macrophages)
syringomyelinase (accumulation of
tay sachs vs neilman pick disease
both cerry red spot in macula
both neurodegeneration
tay sachs - normal liver
neilman pick - hepatomegaly
fabrys presentation and deficient enzyme
Fabry and Harry party Really Careful
Hypohidrosis, Angiokeratomas, Peripheral neuropathy
late- Renal and CVS disease
alpha- galactosidase (accumulation of ceramide trihexoside)
hippocampal atrophy
alzheimers disease
pathphysiology of intraventricular haemorrhage
origionates in germinal matrix within subventricular zone
due to reduced glial fiber support and impaired autoregulation of BP in premature inflants
how would post-meningitidis cause hydrocephalus
meningeal scarring can result in decreased absorption of CSF from the arachnoid villi
artery affected in lateral medullary syndrome
vertebral artery of posterior inferior cerebellar artery
latera medullar syndrome features
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)
artery affected in weber syndrome
posterior cerebral artery
weber syndrome
ipsilateral CN III lesion, contralateral hemiparesis
stroke with mainly facial nerve defects
lateral pontine syndrome
anterior inferior cerebellar artery
artery affected in medial medullary syndrome
anterior spinal artery
medial medullary syndrome
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)
stroke causing tongue to deviate to the right –> cause?
medial medullary syndrome - stroke of anterior spinal artery (right sided –> ipsilateral hypoglossal dysfunction)
hemineglect - area and artery affected
hemineglect occurs due to lesion of non-dominant parietal lobe
MCA infarct
WHAT TYPE OF HYPERSENSITIVITY REACTION OF MYAESTHENIA GRAVIS
type II
what neural tract is affected if there is hyperprolactinaemia
tuberoinfundibular tract
features of tuberous sclerosis
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
tuberous sclerosis is caused by a gene on what chromososm e
autosomal dominant - chromosome 9 and 16
horners syndrome is caused by damage to what type of neuron
second order preganglionic sympathetic neuron
CT findings in huntingtons
caudate atrophy and widening of lateral ventricles
what type of bacteria is campylobacteria
curved, oxidase positive, gram negative bacteria
what type of bacteria is botulinum
rod shaped, gram positive, spore forming bacteria
neural tube defects can occur due to deficiency in what vitamin in utero
folic acid
what type of hypersensitivity reaction of guillian barre
type IV hypersensitivity
what order neurone is damaged in lateral medullary syndrome causing horners
1st order neurone of recurrent laryngeal nerve
rapid onset of muscle weakness and difficulty in speech with regression in development
metachromatic leukodystrophy
(arylsulphatase A enzyme)
associated causes of syringomyelia?
syrinx in spinal cord can be associated with chiari malformation or trauma, infection or tumours
fluid filled gliosis-lined cavity within spinal cord
syringomyelia
what tract is damaged first in syringomyelia and how would this present
spinothalamic tract
- ‘cape like’ loss of pain and temperature
as it expands may damage anterior horn = LMN
