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Eur J Paediatr Neurol. 2000;4(4):171-6.

Early fatal pontocerebellar hypoplasia in premature twin sisters.

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  • 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.

Copyright 2000 European Paediatric Neurology Society.

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