title: Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero.
abstract: Cerebellar hypoplasia is the hallmark of a heterogeneous group of disorders that are caused by genetic and metabolic disorders. Prenatal identification of cerebellar hypoplasia and accurate prediction of outcome are challenging. Autosomal dominant nonprogressive cerebellar ataxia is a rare disorder that typically presents with early hypotonia and delayed motor milestones followed by the onset of mild ataxia and occasionally cognitive impairment. We present a case of a mother and her female fetus. Fetal sonography and magnetic resonance imaging (MRI) showed generalized cerebellar hypoplasia. The mother had mild learning difficulties and clinically showed minor features of cerebellar ataxia. Her MRI also demonstrated extreme cerebellar hypoplasia. The diagnosis of autosomal dominant nonprogressive cerebellar ataxia was suggested. This is the first report of prenatal diagnosis of autosomal dominant nonprogressive cerebellar ataxia. We recommend obtaining a family history, examining the parents, and when appropriate obtaining an MRI before counseling parents of a fetus with a brain malformation.
authors.affiliation: Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.
authors.forename: Ayelet
authors.initials: A
authors.lastname: Zerem
authors.forename: Yael
authors.initials: Y
authors.lastname: Hacohen
authors.forename: Liat
authors.initials: L
authors.lastname: Ben-Sira
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.forename: Gustavo
authors.initials: G
authors.lastname: Malinger
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005333:Fetus; D005799:Genes, Dominant; D006801:Humans; D008279:Magnetic Resonance Imaging; D009421:Nervous System Malformations / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013018:Sound Spectrography