Ultrastructural study of enteric ganglia in three patients with Rett syndrome

In order to Verify whether a pseudo-obstruction syndrome was associated wit h morphological changes in enteric ganglia, we performed an ultrastructural study on rectal biopsy specimens in three patients with Rett syndrome. Fea tures of enteric neurons, detected to a different extent in all three biops y specimens, included an abnormal dilatation of endoplasmic reticulum with a disorganization of cisternae of the Golgi apparatus, and masses of uniden tified electron-dense granulo-filamentous material, probably of lipidic ori gin, observed in the perikaryon. Large electron-lucent membrane-bound vacuo les were found mostly within satellite glial cells. Sometimes, the axon ter minals were swollen and showed intraxonal vacuolization. We conclude that t he reported findings do not represent a specific sign of degeneration and d o not constitute a significant morphological marker of disease. (C) 1998 El sevier Science B.V. All rights reserved.