Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.
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.
Miyata
Rie
R
Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan. r-miyata@tokyokita-jadecom.jp
Hayashi
Masaharu
M
Sato
Hiroyuki
H
Sugawara
Yuji
Y
Yui
Takako
T
Araki
Satoshi
S
Hasegawa
Takeshi
T
Doi
Shozaburo
S
Kohyama
Jun
J
D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000473:pathology*; D000417:Albinism / Q000150:complications*; D003337:Corpus Callosum / Q000473:pathology*; D002658:Developmental Disabilities / Q000150:complications*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017286:Polysomnography; D035781:Siblings; D012893:Sleep Wake Disorders / Q000175:diagnosis / Q000473:pathology*; D013577:Syndrome