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: Rie Miyata, Masaharu Hayashi, Hiroyuki Sato, Yuji Sugawara, Takako Yui, Satoshi Araki, Takeshi Hasegawa, Shozaburo Doi, Jun Kohyama
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 143A Issue 2 Pg. 189-94 (Jan 15 2007) ISSN: 1552-4825 [Print] United States
• PMID: 17163544 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: (c) 2006 Wiley-Liss, Inc

Topics

• Acidosis, Renal Tubular (diagnosis, pathology)
• Albinism (complications)
• Corpus Callosum (pathology)
• Developmental Disabilities (complications)
• Fatal Outcome
• Female
• Humans
• Infant
• Infant, Newborn
• Male
• Polysomnography
• Siblings
• Sleep Wake Disorders (diagnosis, pathology)
• Syndrome