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Early fatal pontocerebellar hypoplasia in premature twin sisters

Published in European journal of paediatric neurology. 2000, vol. 4, no. 4, p. 171-6
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.
Keywords Brain Diseases/diagnosis/pathologyCerebellum/abnormalities/pathologyContracture/etiologyDiagnosis, DifferentialDisease ProgressionDiseases in TwinsFemaleHumansInfant, NewbornInfant, Premature, DiseasesMagnetic Resonance ImagingMicrocephaly/etiologyMuscle Hypertonia/etiologyMyoclonus/etiologyOlivary Nucleus/pathologyPons/abnormalities/pathologyReflex, AbnormalTwins, Monozygotic
PMID: 11008260
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Research group Radiologie neuro-diagnostique et neuro-interventionnelle en pédiatrie (842)
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CHAVES VISCHER, Virginie Isabelle et al. Early fatal pontocerebellar hypoplasia in premature twin sisters. In: European journal of paediatric neurology, 2000, vol. 4, n° 4, p. 171-6. doi: 10.1053/ejpn.2000.0295 https://archive-ouverte.unige.ch/unige:72961

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Deposited on : 2015-06-03

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