Rett syndrome: a case report from an audiovisual program.
A case report of a 13-yr-6-mo-old girl with the Rett syndrome is provided from an audiovisual program featuring home movies taken from 2 mos of age and onward. The patient shows the following symptoms not previously emphasized in the Rett syndrome: deceleration of head growth (rather than acquired microcephaly), fall-off in linear growth in infancy, early hypotonia, precocious puberty and respiratory alkalosis. Except for the precocious puberty, a second, 35-mo-old, patient has followed the same clinical course with similar laboratory findings.
D000293:Adolescent; D002657:Child Development; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D019965:Neurocognitive Disorders / Q000175:diagnosis*; D011597:Psychomotor Performance; D013239:Stereotyped Behavior; D013577:Syndrome; D014741:Video Recording