[Canavan's disease: apropos of a case].
One case of spongy degeneration of CNS in infancy is presented. Main clinical features were, complete failure of motor and mental development, sudden hypotonia and hyperreflexia, blindness and optic atrophy. Computed tomography demonstrated a decrease in white matter density of cerebral hemispheres. Histopathological studies confirmed clinical diagnosis of Canavan's disease and indicated presence of abnormal mitochondria in accordance with those reported in the literature.
del Moral García
T
T
Servicio de Pediatría, Residencia Sanitaria Torrecárdenas, Almería.
Rodríguez Arias
C
C
Muñoz Sánchez-Reyes
M D
MD
López Muñoz
J
J
D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008928:Mitochondria / Q000648:ultrastructure*; D014057:Tomography, X-Ray Computed
Enfermedad de Canavan: a propósito de un caso.