Abnormal dendritic development in maple syrup urine disease.
作者信息
Kamei A, Takashima S, Chan F, Becker L E
机构信息
Division of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, Tokyo, Japan.
出版信息
Pediatr Neurol. 1992 Mar-Apr;8(2):145-7. doi: 10.1016/0887-8994(92)90038-z.
PMID:1580959
Abstract
The neuropathology of a 6-year-old boy with maple syrup urine disease revealed spongy appearance of the white matter and marked edema of the brainstem. Golgi studies demonstrated aberrant orientation of neurons together with abnormalities of dendrites and dendritic spines. Similar changes were observed in a patient with dihydropteridine reductase deficiency. Disorders of amino acid metabolism may be associated with alterations in the terminal stages of neuronal migration and maturation.
摘要
Zotero 插件