Neuropathological studies in a child showing some features of the Rett syndrome.
Clinical and neuropathological data are presented from a girl who died at 14 yrs and who in life displayed some of the characteristics of the Rett syndrome--social withdrawal, progressive loss of locomotor as well as social skills, microcephaly, and a very restricted stereotypy of manipulation. Neuropathological studies showed mild generalised cerebral atrophy with marked unevenness of melanin deposition in nigral neurones. It is suggested that this patient may represent a severe form of the Rett syndrome.
D000293:Adolescent; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002657:Child Development; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D019965:Neurocognitive Disorders / Q000473:pathology*; D013239:Stereotyped Behavior / Q000502:physiology; D013577:Syndrome