Creutzfeldt-jakob-disease (CJD) is a degenerative brain disorder caused by misfolded prion proteins; PrPc is converted into PrPsc (i.e. normal cellular prion protein (PrPc) i.e. alpha helical form transforms into the disease-causing form PrP scrapie (PrPsc) i.e. beta pleated form either spontaneously or as a result of PrPsc infection.
Types:-
1. Sporadic
2. Familial
3. Iatrogenic
4. Variant
Presents with rapidly progressive memory and cognitive impairment, myoclonus, hyperreflexia, ataxia, sleep disturbances and behavioral disturbances.
Diagnosis:-
1. EEG shows periodic synchronous biphasic or triphasic sharp wave complexes.
2. CSF shows increased 14-3-3 protein.
3. MRI shows high signal intensity in the caudate nucleus and putamen bilaterally on a T2 weighted image.
4. Biopsy shows spongiform change (i.e. vacuolization change), loss of neurons without inflammation, gliosis and accumulation of the prions.
Management:-
1. Supportive measures.
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