Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency | Zendy

Powers James M. | Zendy; Rosenblatt David S. | Zendy; Schmidt Robert E. | Zendy; Cross Anne H. | Zendy; Black Joseph T. | Zendy; Moser Ann B. | Zendy; Moser Hugo W. | Zendy; Morgan Daniel J. | Zendy

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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

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