title: Decreased blood flow and oxygen metabolism in the cerebellum, brain stem and thalamus in a case with Menkes kinky hair disease.
abstract: Cerebral blood flow and oxygen metabolism were measured in a five-year-old boy with atypical Menkes kinky hair disease (MKHD) by using positron emission tomography (PET). The patient was diagnosed as having atypical MKHD because of low serum and urinary copper levels, and clinical symptoms. The CT revealed mild to moderate degrees of brain atrophy predominantly in the cerebellum. The PET demonstrated marked decreases of cerebral blood flow and oxygen metabolism in the cerebellum, brain stem and thalamus. These findings seem to reflect the neuropathological abnormalities observed in MKHD. PET seems to be more sensitive than CT in detecting abnormalities in the affected structures. However, because this case is atypical the question of whether typical cases show similar features on the PET remains.
authors.affiliation: Division of Child Neurology, National Center Hospital for Mental, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: N
authors.initials: N
authors.lastname: Fueki
authors.forename: K
authors.initials: K
authors.lastname: Sugai
authors.forename: A
authors.initials: A
authors.lastname: Araki
authors.forename: N
authors.initials: N
authors.lastname: Sakuragawa
authors.forename: M
authors.initials: M
authors.lastname: Iio
mesh_terms: D001928:Brain Diseases, Metabolic / Q000378:metabolism*; D001933:Brain Stem / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000503:physiopathology; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000503:physiopathology; D002560:Cerebrovascular Circulation; D002675:Child, Preschool; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000503:physiopathology; D010100:Oxygen / Q000378:metabolism*; D013788:Thalamus / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000503:physiopathology; D014055:Tomography, Emission-Computed
chemical_list: D010100:Oxygen