title: Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.
abstract: Vici syndrome is a rare congenital disorder characterized by albinism, agenesis of the corpus callosum, and developmental delays. Cardiac complications usually cause poor prognosis. We report sibling cases of Vici syndrome, and address complications of renal tubular acidosis. We also demonstrate the significance of serial examinations of brain natriuretic peptides, and discuss the possible early use of a beta-blocker to control cardiomyopathy. A sleep study including polysomnography indicated functional brainstem involvement, in which muscle atonia during non-rapid sleeping eye movements, and bursts of rapid eye movements increased. These findings provide new clues for medical care of patients with Vici syndrome.
authors.affiliation: Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan. r-miyata@tokyokita-jadecom.jp
authors.forename: Rie
authors.initials: R
authors.lastname: Miyata
authors.forename: Masaharu
authors.initials: M
authors.lastname: Hayashi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Sato
authors.forename: Yuji
authors.initials: Y
authors.lastname: Sugawara
authors.forename: Takako
authors.initials: T
authors.lastname: Yui
authors.forename: Satoshi
authors.initials: S
authors.lastname: Araki
authors.forename: Takeshi
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Shozaburo
authors.initials: S
authors.lastname: Doi
authors.forename: Jun
authors.initials: J
authors.lastname: Kohyama
mesh_terms: D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000473:pathology*; D000417:Albinism / Q000150:complications*; D003337:Corpus Callosum / Q000473:pathology*; D002658:Developmental Disabilities / Q000150:complications*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017286:Polysomnography; D035781:Siblings; D012893:Sleep Wake Disorders / Q000175:diagnosis / Q000473:pathology*; D013577:Syndrome