Por favor, use este identificador para citar o enlazar este ítem: http://hdl.handle.net/10201/18191

Título: Heredopathia atactica polyneuritiformis (Refsum's disease)
Fecha de publicación: 1990
Editorial: Murcia : F. Hernández
ISSN: 0213-3911
Materias relacionadas: CDU::6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología::616.8 - Neurología. Neuropatología. Sistema nervioso
Palabras clave: Nervous system
Refsum's disease
Resumen: A female patient started to develop deafness and vertigo at the age of 29. In the following years she became atactic and retinitis pigmentosa was discovered. The diagnosis of Refsum's disease was reached on the grounds of the high concentration of phytanic acid in plasma. The patient died 23 years after onset of the first symptons. Liver, spleen and kidney showed lipofuscinosis and pigment-laden macrophages. The retina was atrophic and its pigment discontinuous. The meninges contained lipid-laden macrophages. The nerve cells in brain and spinal cord as well as the astrocytes and perivascular macrophages stored substances weakly PAS-positive and sudanophilic. The nerve cells accumulated lysosomes and residual bodies. In the astrocytes, the residual bodies were extremely polymorphous and contained inclusions with bilamellar ribbon-like structures. In the oligodendroglia the residual bodies displayed high electron density and finger print-like pattern. Peroxisomes were found in glial cells and microperoximes in neurons. The ultrastructural findings in the present case demonstrate that in terminal stages phytanic acid can reach the brain parenchyma passing through the BBB. Further autopsy studies will be necessary to determine whether these changes are consistent findings in Refsum's disease.
Autor/es principal/es: Cervós-Navarro, J.
Publicado en: Histology and histopathology
URI: http://hdl.handle.net/10201/18191
Tipo de documento: info:eu-repo/semantics/article
Número páginas / Extensión: 12
Derechos: info:eu-repo/semantics/openAccess
Aparece en las colecciones:Vol. 5, nº 4 (1990)

Ficheros en este ítem:
Fichero Descripción TamañoFormato 
Heredopathia atactica polyneuritiformis Refsums disease.pdf1,27 MBAdobe PDFVista previa
Visualizar/Abrir


Los ítems de Digitum están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.