GM1-gangliosidosis is a progressive neurodegenerative glycosphingolipidosis resulting from a gene mutation causing a deficiency of the lysosomal enzyme β-galactosidase, which leads to the abnormal accumulation of GM1 ganglioside in the central nervous system. In the most severe early infantile phenotype, excessive ganglioside accumulation results in a rapid decline in neurological and psychomotor functions, and death occurs within 2 years of age. Currently, there is no effective therapy for GM1-gangliosidosis.
View Article and Find Full Text PDFJ Pediatr Adolesc Gynecol
August 2020
Background: The appendix and ovaries are rarely involved simultaneously in malignancies. The decision to perform an ovarian biopsy or a surgical resection in young patients can be challenging without sufficient clinical information.
Case: We describe an 11-year-old girl with bilateral ovarian masses, an enlarged appendix, associated pleural effusion, and ascites.