1 - Serviço de Neurologia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central EPE;
2 - Unidade Neurorradiologia Pediátrica, Hospital D. Estefânia, CHLC;
3 - Hospital Distrital de Faro
PediatrNeurol. 2013 Sep;49(3):195-7. doi: 10.1016/j.pediatrneurol.2013.02.003. Epub 2013 Jul 4
BACKGROUND: GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal recessive deficiency of β-galactosidase. There is considerable overlap between classical phenotypes and clinical and imaging findings, which are often difficult to interpret.
PATIENT: The patient in this study had dysmorphism, dysostosis, progressive dystonia, and T2 hypointensity in the basal ganglia. Partially similar clinical and radiologic findings were described previously in two reports.
CONCLUSIONS: T2 hypointensity in the globus pallidus should, in the appropriate clinical setting, lead to consideration of the diagnosis of GM1 gangliosidosis.
Key-words: GM1 gangliosidosis, globus pallidus, dystonia