Patients with cobalamin deficiency may experience-cognitive impairment
or neuropsychiatric symptoms. Although abnormalities of central myeli
n are the presumed cause of these manifestations, there is a paucity o
f reports of white matter lesions as shown on neuroimaging studies, an
d the effects of cobalamin replacement on these lesions are not known.
We report a man with subacute cognitive impairment associated with co
balamin deficiency and remarkable confluent white matter abnormalities
on MRI, confirmed by biopsy. With cobalamin replacement, both his cog
nitive deficits and imaging abnormalities partially resolved. This cas
e indicates that leukoencephalopathy, in the absence of anemia or myel
opathy, should be added to the spectrum of disorders associated with c
obalamin deficiency. Early detection and treatment may be associated w
ith a greater potential for recovery.