title: Lhermitte-Duclos disease with cervical paraspinal arteriovenous fistula.
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.
authors.affiliation: Department of Traumatology, Sapporo Medical University, Sapporo, Hokkaido, Japan. akiyuki@sapmed.ac.jp
authors.forename: Yukinori
authors.initials: Y
authors.lastname: Akiyama
authors.forename: Jun
authors.initials: J
authors.lastname: Ikeda
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Ibayashi
authors.forename: Tadashi
authors.initials: T
authors.lastname: Nonaka
authors.forename: Yasufumi
authors.initials: Y
authors.lastname: Asai
authors.forename: Kiyohiro
authors.initials: K
authors.lastname: Houkin
mesh_terms: D000328:Adult; D001164:Arteriovenous Fistula / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D002528:Cerebellar Neoplasms / Q000150:complications* / Q000235:genetics / Q000601:surgery; D002574:Cervical Vertebrae; D005729:Ganglioneuroma / Q000150:complications* / Q000235:genetics / Q000601:surgery; D006801:Humans; D007601:Jugular Veins / Q000002:abnormalities*; D008297:Male; D051059:PTEN Phosphohydrolase / Q000235:genetics; D014711:Vertebral Artery / Q000002:abnormalities*
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human