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Neurological and Neuropathologic Heterogeneity in Two Brothers with Cobalamin C Deficiency

Overview
Journal Ann Neurol
Specialty Neurology
Date 2001 Mar 23
PMID 11261516
Citations 17
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Abstract

Two adult brothers, one documented to have methylmalonic acidemia with homocystinuria, or cobalamin C deficiency, after autopsy, displayed severe but divergent neurological presentations. One exhibited a myelopathy and the other chronic endocrine problems (Schmidt's syndrome) followed by a neuropsychiatric and dementing disorder owing to cerebral perivascular demyelination. The recognition of cobalamin C deficiency has practical implications because it is one of the few inherited diseases of central white matter that is treatable.

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