Journal article
Cerebellar Hypoplasia with Heterotopic Purkinje Cells in the Molecular Layer and Preservation of the Granule Layers Associated with Severe Encephalopathy. A New Entity?
Neuropediatrics, v 34(3)
2003
PMID: 12910442
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
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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Details
- Title
- Cerebellar Hypoplasia with Heterotopic Purkinje Cells in the Molecular Layer and Preservation of the Granule Layers Associated with Severe Encephalopathy. A New Entity?
- Creators
- I. Pascual-Castroviejo - Hospital Universitario La PazS. I. Pascual-Pascual - Paediatric Neurology Service, University Hospital La Paz, Madrid, SpainM. Gutierrez-Molina - Neuropathology Division, University Hospital La Paz, Madrid, SpainH. Urich - University of LondonC. D. Katsetos - Drexel University
- Publication Details
- Neuropediatrics, v 34(3)
- Publisher
- Thieme
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000184836500010
- Scopus ID
- 2-s2.0-0042233974
- Other Identifier
- 991019346799204721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Clinical Neurology
- Pediatrics