UNIGE document Scientific Article - Case report
previous document  unige:72961  next document
add to browser collection
Title

Early fatal pontocerebellar hypoplasia in premature twin sisters

Authors
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
Identifiers
PMID: 11008260
Full text
Article (Published version) (345 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research group Radiologie neuro-diagnostique et neuro-interventionnelle en pédiatrie (842)
Citation
(ISO format)
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

301 hits

0 download

Update

Deposited on : 2015-06-03

Export document
Format :
Citation style :