Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency.
case_report · Level V
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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.
Medical subject headings
- Brain
- Vitamin B 12 Deficiency