[Approximation to the diagnosis of congenital metabolic disorders with neuroimaging].
Inherited metabolic diseases (IMD) have a variable clinical and biological expression. In the last few years neuroimaging (MR, spectroscopic MR, PET, SPECT) have demonstrated the neurological impairment in some IMD. Biochemical analysis of the brain is possible due to spectroscopy MR. Neuroimaging in the IMD is not always definite but can frequently demonstrate an impairment in gray or white matter, basal ganglia, cerebellum or brain stem. In our article we analyze the different involvement of the central nervous system structures in IMD. On the other hand we review some brain malformations that can be related to IMD.
Campistol
J
J
Servicio de Neurología, Unitat Integrada de Pediatria Hospital Sant Joan de Déu-Clínic, Hospital Universitari Sant Joan de Déu, Esplugues de Ll., Barcelona.
D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed