title: Cerebellar hypoplasia with heterotopic purkinje cells in the molecular layer and preservation of the granule layers associated with severe encephalopathy. A new entity?
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.
authors.affiliation: Paediatric Neurology Service, University Hospital La Paz, Madrid, Spain. pascas@inves.es
authors.forename: I
authors.initials: I
authors.lastname: Pascual-Castroviejo
authors.forename: S I
authors.initials: SI
authors.lastname: Pascual-Pascual
authors.forename: M
authors.initials: M
authors.lastname: Gutierrez-Molina
authors.forename: H
authors.initials: H
authors.lastname: Urich
authors.forename: C D
authors.initials: CD
authors.lastname: Katsetos
mesh_terms: D001927:Brain Diseases / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D064026:Calbindins; D002531:Cerebellum / Q000002:abnormalities* / Q000378:metabolism / Q000473:pathology; D002648:Child; D002828:Choristoma / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D016900:Neurofilament Proteins / Q000378:metabolism; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000209:etiology; D011689:Purkinje Cells; D064030:S100 Calcium Binding Protein G / Q000378:metabolism; D014404:Tubulin / Q000378:metabolism
chemical_list: D064026:Calbindins; D016900:Neurofilament Proteins; D064030:S100 Calcium Binding Protein G; D014404:Tubulin