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Early fatal pontocerebellar hypoplasia in premature twin sisters
V Chaves-Vischer1, G P Pizzolato, S Hanquinet
1Hopital des Enfants, Hopitaux Universitaires, Geneva, Switzerland. Virginie.Chaves-Vischer@hcuge.ch
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.