Albinism Research Today is a free monthly online journal that collates and summarizes the latest research about Albinism, including details on pigmentation, genetic trait, heritability.

Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.

Miyata R, Hayashi M, Sato H, Sugawara Y, Yui T, Araki S, Hasegawa T, Doi S, Kohyama J

Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan. r-miyata@tokyokita-jadecom.jp

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.

Published 27 December 2006 in Am J Med Genet A, 143(2): 189-94.
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