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.