1 - Serviço de Neurologia Pediátrica, Área da Mulher, Adolescente e Criança, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
2 - Unidade de Doenças Metabólicas, Área da Mulher, Adolescente e Criança, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
- Poster
Introduction: GM1 gangliosidosis is a rare inherited neurodegenerative lysosomal storage disorder caused by deficiency of beta-galactosidase necessary for recycling GM1-ganglioside in neurons. It is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive pattern. It can be classified into three major clinical phenotypes according to the age of onset and severity of symptoms: infantile, late infantile/juvenile and adult forms.
Patients: We present seven cases of GM1 gangliosidosis diagnosed over the last twenty years in our center. Five of these cases represent the infantile form while the other two present a juvenile form. We describe the age of onset, clinical manifestations, magnetic resonance imaging, molecular studies and follow-up of theses patients. The clinical manifestations are variable ranging, in the infantile form from neonatal oedema and global hypotonia with hepatomegaly to short stature, dysmorphism, dystonia and psychomotor regression in the patients with late onset disease. Three of the infantile forms belong to gypsy families and two others are from East Europe. MRI imaging shows cortical and cerebellar atrophy, pallidal hypointensity and hypomielination. Cherry red spot and signs of dysostosis multiplex are also found. All of the infantile forms died early before the age of fifteen months while the juvenile forms are still alive.
Comments: The patients we describe reinforce what is already known as the high and early mortality or the infantile forms and the clinical variety of presentation this disorder. As there is currently no cure for this disorder (substrate reduction therapy and gene therapy are being investigated) we emphasize this and give our support to investigators and families involved as it is not easy to deal with fatal disorders or those which present with neurological regression.
Palavras Chave: GM1 gangliosidosis; lysosomal storage disorder