Neuropediatrics 2003; 34(3): 160-164
DOI: 10.1055/s-2003-41279
Short Communication

Georg Thieme Verlag Stuttgart · New York

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 1 , S. I. Pascual-Pascual 1 , M. Gutierrez-Molina 2 , H. Urich 3 , C. D. Katsetos 4
  • 1Paediatric Neurology Service, University Hospital La Paz, Madrid, Spain
  • 2Neuropathology Division, University Hospital La Paz, Madrid, Spain
  • 3Professor Emeritus of Neuropathology, University of London, London, UK
  • 4Departments of Paediatrics (Neurology) and Pathology and Laboratory Medicine, St Christopher's Hospital for Children and Departmen of Paediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA
Weitere Informationen

Publikationsverlauf

Received: February 10, 2003

Accepted after Revision: May 15, 2003

Publikationsdatum:
11. August 2003 (online)

Preview

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.

References

M. D PhD Ignacio Pascual-Castroviejo

Head Paediatric Neurology Service, University Hospital La Paz

Paseo de la Castellana 261

28046 Madrid

Spain

eMail: pascas@inves.es