Am J Med Genet A. 2007 Jan 15;143(2):189-94.

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.

Source

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

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.

PMID:: 17163544; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

Review Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. [Am J Med Genet. 1999]
Review Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A, Roche C, Gonzalez C, Sanchez H, Garcia-Alix A, Cabanas F, et al. Am J Med Genet. 1999 Aug 27; 85(5):479-85.
Review Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. [Am J Med Genet. 2002]
Review Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections.
Chiyonobu T, Yoshihara T, Fukushima Y, Yamamoto Y, Tsunamoto K, Nishimura Y, Ishida H, Toda T, Kasubuchi Y. Am J Med Genet. 2002 Apr 15; 109(1):61-6.
Arthrogryposis, renal dysfunction and cholestasis syndrome. [Saudi Med J. 2000]
Arthrogryposis, renal dysfunction and cholestasis syndrome.
Abdullah MA, Al-Hasnan Z, Okamoto E, Abomelha AM. Saudi Med J. 2000 Mar; 21(3):297-9.
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. [Am J Med Genet A. 2010]
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.
McClelland V, Cullup T, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, Boehm J, Bitoun M, Miller O, Jan W, et al. Am J Med Genet A. 2010 Mar; 152A(3):741-7.
Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family. [Pediatr Int. 2006]
Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family.
Ikezumi Y, Kabuki N, Hayakawa H, Matsui T, Gunji T, Uchiyama M. Pediatr Int. 2006 Aug; 48(4):416-9.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Sibling cases of Vici syndrome: sleep abnormalities and complications of renal t...
Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.
Am J Med Genet A. 2007 Jan 15 ;143(2):189-94.

PubMed
Prospective study of vitamins C, E, and A and carotenoids and risk of oral prema...
Prospective study of vitamins C, E, and A and carotenoids and risk of oral premalignant lesions in men.
Int J Cancer. 2007 Mar 1 ;120(5):970-7.

PubMed
Wood preservatives, solvents, and thrombocytopenic purpura.
Wood preservatives, solvents, and thrombocytopenic purpura.
Lancet. 1991 Sep 21 ;338(8769):766.

PubMed
Chromatin in embryonic stem cell neuronal differentiation.
Chromatin in embryonic stem cell neuronal differentiation.
Histol Histopathol. 2007 Mar ;22(3):311-9.

PubMed
Vaccines for seasonal and pandemic influenza.
Vaccines for seasonal and pandemic influenza.
J Infect Dis. 2006 Nov 1 ;194 Suppl 2:S111-8.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: