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