| Literature DB >> 17163544 |
Rie Miyata1, Masaharu Hayashi, Hiroyuki Sato, Yuji Sugawara, Takako Yui, Satoshi Araki, Takeshi Hasegawa, Shozaburo Doi, Jun Kohyama.
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. (c) 2006 Wiley-Liss, IncEntities:
Mesh:
Year: 2007 PMID: 17163544 DOI: 10.1002/ajmg.a.31584
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802