title: Multifocal atrophy of cerebellar internal granular neurons in lesch-nyhan disease: case reports and review.
abstract: The neuropathologic findings in 31 cases (aged 6 months to 33 years) of Lesch-Nyhan disease (hypoxanthine-guanine phosphoribosyltransferase deficiency) have been previously reported. Herein 2 additional cases, a 10-year-old boy and a 21-year-old man, are described. Both cases had unusual cerebellar abnormalities comprising multifocal internal granular layer atrophy with sparing of the Purkinje layer, one had a slightly small brain, and neither had striatal abnormalities. Careful review of the literature indicates that the most prevalent neuropathologic abnormalities are small cerebrum (13 of 33 cases) and multifocal cerebellar lesions (9 of 33 cases), although these could be underreported. Other authors have disregarded these abnormalities, focusing on the apparently normal basal nuclei, and they have suggested that the clinical neurologic abnormalities are based solely on changes in neurotransmitters. We discuss potential mechanisms of cerebellar damage, suggest that the cerebellar abnormality could in part explain the clinical syndrome, and recommend that cerebellar structure and function should be more carefully studied in Lesch-Nyhan disease.
authors.affiliation: Department of Pathology, University of Manitoba, Winnipeg, Canada. delbigi@cc.umanitoba.ca
authors.forename: Marc R
authors.initials: MR
authors.lastname: Del Bigio
authors.forename: William C
authors.initials: WC
authors.lastname: Halliday
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000150:complications / Q000473:pathology*; D008297:Male; D009474:Neurons / Q000473:pathology*