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Cerebellar Hypoplasia with Heterotopic Purkinje Cells in the Molecular Layer and Preservation of the Granule Layers Associated with Severe Encephalopathy. A New Entity?
Journal article   Peer reviewed

Cerebellar Hypoplasia with Heterotopic Purkinje Cells in the Molecular Layer and Preservation of the Granule Layers Associated with Severe Encephalopathy. A New Entity?

I. Pascual-Castroviejo, S. I. Pascual-Pascual, M. Gutierrez-Molina, H. Urich and C. D. Katsetos
Neuropediatrics, v 34(3)
2003
DOI: https://doi.org/10.1055/s-2003-41279
PMID: 12910442
Featured in Collection :   UN Sustainable Development Goals @ Drexel

Abstract

Short Communication
Abstract We present the case of an infant girl, born to first cousins, with a clinical phenotype consisting of microcephaly, hypotonia, strabismus and severe psychomotor retardation. Magnetic resonance imaging (MRI) showed global cerebellar atrophy involving the vermis and both hemispheres. The patient's serum transferrin levels were consistently unremarkable. Cerebellar biopsy, performed at 13 months of age, revealed heterotopic Purkinje cells in the molecular layer, but preservation of the external and internal granular layers. To our knowledge, this histological pattern of cerebellar cortical disorganization has not been described previously. The consanguinity of the parents suggests an autosomal recessive inheritance.

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5 citations in Scopus

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Collaboration types
Domestic collaboration
International collaboration
Web of Science research areas
Clinical Neurology
Pediatrics
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