Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency.
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.
University of Rochester Medical Center, Department of Pathology, Rochester, NY 14642, USA. jamespowers@urmc.rochester.edu
J M
JM
Powers
D S
DS
Rosenblatt
R E
RE
Schmidt
A H
AH
Cross
J T
JT
Black
A B
AB
Moser
H W
HW
Moser
D J
DJ
Morgan
D000328:Adult; D001921:Brain / Q000473:pathology*; D018740:Genetic Heterogeneity; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013116:Spinal Cord / Q000473:pathology; D014806:Vitamin B 12 Deficiency / Q000473:pathology*