title: Neuroradiologic findings in Sengers syndrome.
abstract: Sengers syndrome is characterized by a constellation of congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis. Two forms of the disease have been described: a fatal neonatal form, and a more benign form in which patients live into their second or third decades. With the exception of time to death, no findings have distinguished these two forms. We present 3 cases of neonatal Sengers syndrome with significant central nervous system involvement, a finding not previously described. We suggest that the fatal neonatal form of Sengers syndrome would be more accurately described as a mitochondrial encephalomyopathy. Cranial imaging may help distinguish the two types of this syndrome.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Emory University, Atlanta, Georgia 30322, USA. scott_perry@oz.ped.emory.edu
authors.forename: M Scott
authors.initials: MS
authors.lastname: Perry
authors.forename: John T
authors.initials: JT
authors.lastname: Sladky
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications / Q000000981:diagnostic imaging*; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000000981:diagnostic imaging*; D005220:Fathers; D006801:Humans; D007223:Infant; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications / Q000000981:diagnostic imaging*; D011859:Radiography