Early fatal pontocerebellar hypoplasia in premature twin sisters

Eur J Paediatr Neurol. 2000;4(4):171-6. doi: 10.1053/ejpn.2000.0295.

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.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases / diagnosis*
  • Brain Diseases / pathology
  • Cerebellum / abnormalities*
  • Cerebellum / pathology
  • Contracture / etiology
  • Diagnosis, Differential
  • Disease Progression
  • Diseases in Twins*
  • Female
  • Humans
  • Infant, Newborn
  • Infant, Premature, Diseases*
  • Magnetic Resonance Imaging
  • Microcephaly / etiology
  • Muscle Hypertonia / etiology
  • Myoclonus / etiology
  • Olivary Nucleus / pathology
  • Pons / abnormalities*
  • Pons / pathology
  • Reflex, Abnormal
  • Twins, Monozygotic