Rett syndrome in China: report of 9 patients.
This is the first report of Rett syndrome in China. Clinical and laboratory data were obtained from 9 girls with Rett syndrome. In addition to the previously reported clinical manifestations (i.e., early deterioration of intelligence, microcephaly, peculiar stereotypic hand movements, and epilepsy), 2 other features were observed in these patients: abnormal evoked response audiometry and low content of the elements, copper and zinc in the hair. The cause of these associated phenomena is unknown.
Wu
X R
XR
Department of Pediatrics, First Teaching Hospital, Beijing Medical University, People's Republic of China.
Zhao
D H
DH
Ling
Q
Q
Bu
D F
DF
Zuo
C H
CH
D000641:Ammonia / Q000097:blood; D001321:Autistic Disorder / Q000175:diagnosis*; D001925:Brain Damage, Chronic / Q000175:diagnosis*; D001933:Brain Stem / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002681:China; D004569:Electroencephalography; D005072:Evoked Potentials, Auditory; D005260:Female; D006801:Humans; D007223:Infant; D012307:Risk Factors; D013239:Stereotyped Behavior / Q000502:physiology; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D000641:Ammonia