title: A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.
abstract: Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. She also exhibited intracranial hypertension, including papilledema and increased intrathecal pressure (260-300 mmH2O), but her brain magnetic resonance imaging was normal. No genetic abnormalities were detected by DNA chip analysis or exome sequencing. Her papilledema improved following administration of acetazolamide. This is the first report of a case of BBS complicated with intracranial hypertension and its treatment.
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Saida
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan. Electronic address: inabay@shinshu-u.ac.jp.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Inaba
authors.affiliation: Department of Neurology, Sakai Hospital, Kinki University Faculty of Medicine, Sakai, Japan.
authors.forename: Makito
authors.initials: M
authors.lastname: Hirano
authors.affiliation: Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Wataru
authors.initials: W
authors.lastname: Satake
authors.affiliation: Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Tatsushi
authors.initials: T
authors.lastname: Toda
authors.affiliation: Graduate School of Frontier Sciences, University of Tokyo, Tokyo, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Suzuki
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Asuka
authors.initials: A
authors.lastname: Sudo
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Noda
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Hidaka
authors.affiliation: Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Kazutaka
authors.initials: K
authors.lastname: Hirabayashi
authors.affiliation: Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Imai
authors.affiliation: Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Kurokawa
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Koike
mesh_terms: D020788:Bardet-Biedl Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism; D002648:Child; D005260:Female; D006801:Humans; D019586:Intracranial Hypertension / Q000150:complications*; D007564:Japan; D010211:Papilledema / Q000150:complications
keywords: Bardet-Biedl syndrome (BBS); Cilia; Ciliopathy; Intracranial hypertension