A patient with methylmalonic academia may develop a stroke-like syndrome associated with bilateral degeneration of the globi pallidi (left and right globus pallidus).


Synonym: metabolic stroke


Patient selection: methylmalonic acidemia


Clinical features:

(1) acute illness with ketoacidosis (metabolic acidosis)

(2) onset of a stroke-like syndrome

(3) exclusion of vascular, hemorrhagic or thromboembolic stroke

(4) degenerative changes secondary to infarction in both the left and right globus pallidus seen on brain MRI (increased intensity on T2-weight images)

(5) variable presence of an extrapyramidal syndrome afterwards (involuntary movements, spastic paraplegia, dystonia, bradykinesia, etc)


Neuropathologic exam may show degeneration in the:

(1) globus pallidus and other structures of the basal ganglia

(2) internal capsule

(3) superior cerebellar peduncles

(4) tegmentum of the brainstem

(5) mammillary bodies


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