title: Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.
abstract: Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor (VLDLR) genes have been reported. We present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis was made. This likely represents a previously undescribed genetic lissencephaly syndrome.
authors.affiliation: Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada.
authors.forename: Iman S
authors.initials: IS
authors.lastname: Abumansour
authors.affiliation: Department of Radiology, University of Manitoba, Winnipeg, MB, Canada Department of Pediatrics and Child Health, Children's Hospital, University of Manitoba, Winnipeg, MB, Canada.
authors.forename: Jens
authors.initials: J
authors.lastname: Wrogemann
authors.affiliation: Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada Department of Pediatrics and Child Health, Children's Hospital, University of Manitoba, Winnipeg, MB, Canada.
authors.forename: Albert E
authors.initials: AE
authors.lastname: Chudley
authors.affiliation: Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada Department of Pediatrics and Child Health, Children's Hospital, University of Manitoba, Winnipeg, MB, Canada.
authors.forename: Bernard N
authors.initials: BN
authors.lastname: Chodirker
authors.affiliation: Section of Pediatric Neurology, University of Manitoba, Winnipeg, MB, Canada Department of Pediatrics and Child Health, Children's Hospital, University of Manitoba, Winnipeg, MB, Canada msalman@hsc.mb.ca.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Salman
mesh_terms: D001933:Brain Stem / Q000473:pathology*; D002386:Cataract / Q000150:complications*; D002531:Cerebellum / Q000002:abnormalities*; D002658:Developmental Disabilities / Q000150:complications; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D054082:Lissencephaly / Q000150:complications*; D008279:Magnetic Resonance Imaging; D009421:Nervous System Malformations / Q000150:complications*; D000091042:Reelin Protein
keywords: cataracts; cerebellar hypoplasia; lissencephaly; neuronal migration disorder; pachygyria