Uncoupling of blood flow and oxygen metabolism in the cerebellum in type 3 Gaucher disease.
Cerebral blood flow and oxygen metabolism were measured in a fourteen-year-old girl with type 3 Gaucher disease by using positron emission tomography (PET). Cranial CT and MRI showed only mild brain atrophy. PET demonstrated uncoupling of cerebral blood flow and oxygen metabolism, that is, a mild increase of cerebral blood flow and a reduction of oxygen extraction fraction and cerebral metabolic rate of oxygen only in the cerebellum. Although the mechanism is unknown, the above finding may reflect the underlying pathogenesis of the disorder. PET seems to be more sensitive than CT and MRI in detecting some functional abnormalities in the affected structures. However, further investigations must be done before concluding that this finding is unique to type 3 Gaucher disease.
Division of Child Neurology, National Center Hospital for Neurology and Psychiatry, Tokyo, Japan.
H
H
Yoshikawa
N
N
Fueki
M
M
Sasaki
N
N
Sakuragawa
D000293:Adolescent; D001259:Ataxia / Q000503:physiopathology; D002531:Cerebellum / Q000098:blood supply* / Q000000981:diagnostic imaging / Q000378:metabolism; D002560:Cerebrovascular Circulation / Q000502:physiology; D004831:Epilepsies, Myoclonic / Q000503:physiopathology; D005260:Female; D005776:Gaucher Disease / Q000378:metabolism / Q000503:physiopathology*; D006801:Humans; D010101:Oxygen Consumption / Q000502:physiology*; D014055:Tomography, Emission-Computed