Publications by authors named "Toshiki Tsunogai"

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.

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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.

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