A case of 3p deletion syndrome associated with cerebellar hemangioblastoma

Sato Suzuki-Muromoto, Naomi Hino-Fukuyo, Kazuhiro Haginoya, Atsuo Kikuchi, Hiroki Sato, Yuko Sato, Tojo Nakayama, Yuki Kubota, Yosuke Kakisaka, Mitsugu Uematsu, Toshihiro Kumabe, Shigeo Kure

研究成果: Article査読

2 被引用数 (Scopus)


We described clinical course of a 24-year-old woman with 3p deletion syndrome associated with cerebellar hemangioblastoma at the age of 16. years old. She presented dysmorphic facial features, growth retardation and severe psychomotor retardation associated with 3p deletion syndrome.We identified de novo 3p deletion encompassing p25 by using array-based comparative genomic hybridization, where causative gene of von Hippel-Lindau (VHL) disease located. Surgical therapy for cerebellar hemangioblastoma was performed, and histological examination was consistent in cerebellar hemangioblastoma. She showed no other tumors associated VHL disease till 24. years old.This is the first case report of a patient with 3p deletion syndrome whose cerebellar hemangioblastoma may be associated with VHL disease. Repeat imaging studies were recommended for the patients with 3p deletion syndrome.

ジャーナルBrain and Development
出版ステータスPublished - 2016 2 1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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