CONICET | Buscador de Institutos y Recursos Humanos

Galactosialidosis is an autosomal recessive lysosomal storage disorder characterized by a combined deficiency of bgalactosidase and a-neuraminidase, due to a defect of another lysosomal protein, cathepsin A. The latter, forms a complex with b-galactosidase and neuraminidase, and protects them against excessive proteolytic degradation. Three clinical phenotypes had been described: a severe early infantile form; a milder late infantile type with minor mental deterioration; and a juvenile/adult form, mainly found in Japan, which is characterized by slowly progressive neurological symptoms, skeletal and eye abnormalities, dysmorphism, angiokeratomas, and long survival.1 Herein, we report a case of galactosialidosis of the juvenile-adult form in a Peruvian girl with angiokeratoma corporis diffusum (ACD) and myoclonus.