[Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis].
The authors report a case of Infantile Neuronal Ceroid Lipofuscinosis and emphasize the role of MRI in the diagnosis and follow-up of the disease describing a severe progressive cerebral atrophy. Clinical findings and laboratory data were reviewed and the importance of palmitoyl-protein thiosterase activity is described.
Reis
A M
AM
Serviços de Neurorradiologia, Neurologia e Pediatria (Unidade de Neuropediatria), Hospital Pedro Hispano, Matosinhos.
Magalhães
Z
Z
Barbosa
C
C
Alves
D
D
Pereira
J R
JR
D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology*