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  • Title: Lhermitte-Duclos disease with cervical paraspinal arteriovenous fistula.
    Author: Akiyama Y, Ikeda J, Ibayashi Y, Nonaka T, Asai Y, Houkin K.
    Journal: Neurol Med Chir (Tokyo); 2006 Sep; 46(9):446-9. PubMed ID: 16998279.
    Abstract:
    A 38-year-old man presented with a dysplastic cerebellar gangliocytoma associated with a paraspinal arteriovenous fistula (AVF) at the upper cervical portion. Neuroimaging examination indicated the diagnosis of Lhermitte-Duclos disease. The patient was treated by embolization of the AVF followed by partial resection of the cerebellar tumor. Genetic examination showed a mutation of the phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene. Histological examination confirmed the diagnosis. Lhermitte-Duclos disease is a rare dysplastic gangliocytoma manifesting as a slowly growing mass in the cerebellum and is usually asymptomatic. This case of Lhermitte-Duclos disease associated with paraspinal AVF and mutation of the PTEN gene suggests a relationship between Lhermitte-Duclos disease and Cowden disease.
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