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Case Reports
. 2000;4(4):171-6.
doi: 10.1053/ejpn.2000.0295.

Early fatal pontocerebellar hypoplasia in premature twin sisters

V Chaves-Vischer  1 , G P Pizzolato, S Hanquinet, A Maret, A Bottani, C A Haenggeli
Affiliations
Case Reports

Early fatal pontocerebellar hypoplasia in premature twin sisters

V Chaves-Vischer et al. Eur J Paediatr Neurol. 2000.

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.

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