Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 143A, Issue 2, Pages 189-194Publisher
WILEY
DOI: 10.1002/ajmg.a.31584
Keywords
Vici syndrome; albinism; agenesis of the corpus callosum; cardiomyopathy; brain natriuretic peptides; renal tubular acidosis; sleep study; actigram; polysomnography; REM sleep; monoamine
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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 dearly use of a P-blocker to control cardiomyopathy. A sleep study including polysomnography indicated functional brainstem involvement, in which muscle atonia during non-tapid 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, Inc.
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