title: Early fatal pontocerebellar hypoplasia in premature twin sisters.
abstract: We report clinical, neuroradiological and neuropathological findings of monozygotic twin sisters born at 30 weeks' gestation, with pontocerebellar hypoplasia (PCH) similar but not identical to type 2 PCH. They presented with hypertonia, jitteriness, spontaneous and provoked myoclonic jerks (hyperekplexia), apnoeic episodes, and progressive microcephaly. They died at 7 weeks of age from respiratory failure.
authors.affiliation: Hopital des Enfants, Hopitaux Universitaires, Geneva, Switzerland. Virginie.Chaves-Vischer@hcuge.ch
authors.forename: V
authors.initials: V
authors.lastname: Chaves-Vischer
authors.forename: G P
authors.initials: GP
authors.lastname: Pizzolato
authors.forename: S
authors.initials: S
authors.lastname: Hanquinet
authors.forename: A
authors.initials: A
authors.lastname: Maret
authors.forename: A
authors.initials: A
authors.lastname: Bottani
authors.forename: C A
authors.initials: CA
authors.lastname: Haenggeli
mesh_terms: D001927:Brain Diseases / Q000175:diagnosis* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D003286:Contracture / Q000209:etiology; D003937:Diagnosis, Differential; D018450:Disease Progression; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000209:etiology; D009122:Muscle Hypertonia / Q000209:etiology; D009207:Myoclonus / Q000209:etiology; D009847:Olivary Nucleus / Q000473:pathology; D011149:Pons / Q000002:abnormalities* / Q000473:pathology; D012021:Reflex, Abnormal; D014430:Twins, Monozygotic