Premium
Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency
Author(s) -
Powers James M.,
Rosenblatt David S.,
Schmidt Robert E.,
Cross Anne H.,
Black Joseph T.,
Moser Ann B.,
Moser Hugo W.,
Morgan Daniel J.
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.78
Subject(s) - cobalamin , homocystinuria , autopsy , myelopathy , medicine , white matter , pediatrics , pathology , psychology , psychiatry , magnetic resonance imaging , vitamin b12 , biochemistry , chemistry , amino acid , methionine , radiology , spinal cord
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. Ann Neurol 2001;49:396–400