Neuropathology of Rett syndrome.

摘要: Autopsy studies in 8 girls with the Rett syndrome dying between 4 and 15 years showed: Diffuse cerebral atrophy/micrencephaly, a decrease brain weight by 13.8 to 33.8% of age-matched controls, apparently related duration disorder; Mild, but inconsistent diffuse cortical atrophy without developmental disorders apart from occasional microdysgenesis (three cases), increased amounts neuronal lipofuscin, mild astrocytic gliosis; spongy changes cerebellar white matter, optic nerve (two myelinated fascicles brainstem tegmentum, signs dys- or demyelination, different myelinopathy common aminoacidopathies; Most conspicuous was an underpigmentation substantia nigra which contained many fewer well-pigmented neurons for age (53-73%), pigmented granules per neuron, while total number nigral triphasic substructure neuromelanin were normal age. No pathologic seen locus coeruleus, nucleus basalis Meynert, dorsalis raphe; Electron microscopy autopsy material 11-year-old girl showed lipofuscin storage disorder. Reactive degenerating axons caudate possibly changes, suggesting some dysfunction dopaminergic nigro-striatal system, synaptic organization neostriatum appeared unaffected. Peripheral patient advanced stage numbers unmyelinated (regenerated?) axons, almost no demyelination few remyelinated axonal degeneration rather than hypomyelination, exogenous factors (malnutrition) cannot be excluded. The pathogenetic mechanisms morphologic lesions their relations clinical neurochemical findings are unknown deserve further intensive investigations.