Multifocal Atrophy of Cerebellar Internal Granular Neurons in Lesch-Nyhan Disease

摘要: 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 21-year-old man, are described. Both had unusual cerebellar abnormalities comprising multifocal internal granular layer atrophy with sparing the Purkinje layer, one slightly small brain, neither striatal abnormalities. Careful review literature indicates that most prevalent cerebrum (13 cases) lesions (9 cases), although these could be underreported. Other authors disregarded abnormalities, focusing on apparently normal basal nuclei, they suggested clinical neurologic based solely changes neurotransmitters. We discuss potential mechanisms damage, suggest abnormality part explain syndrome, recommend structure function should more carefully studied disease.