A case of 3p deletion syndrome associated with cerebellar hemangioblastoma

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• 作者：Sato Suzuki-Muromoto^a ; Naomi Hino-Fukuyo^a ; ^b ; ^{naomi-h@zc4.so-net.ne.jp" class="auth_mail" title="E-mail the corresponding author} ; Kazuhiro Haginoya^a ; ^c ; Atsuo Kikuchi^a ; Hiroki Sato^a ; Yuko Sato^a ; Tojo Nakayama^a ; Yuki Kubota^a ; Yosuke Kakisaka^a ; Mitsugu Uematsu^a ; Toshihiro Kumabe^d ; Shigeo Kure MD^a
• 关键词：3p deletion syndrome ; von Hippel&ndash ; Lindau disease ; Hemangioblastoma ; Cerebellar hemangioblastoma
• 刊名：Brain and Development
• 出版年：2016
• 出版时间：February 2016
• 年：2016
• 卷：38
• 期：2
• 页码：257-260
• 全文大小：894 K

文摘

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.