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.
Powers
J M
JM
University of Rochester Medical Center, Department of Pathology, Rochester, NY 14642, USA. jamespowers@urmc.rochester.edu
Rosenblatt
D S
DS
Schmidt
R E
RE
Cross
A H
AH
Black
J T
JT
Moser
A B
AB
Moser
H W
HW
Morgan
D J
DJ
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*