Ostergaard J R, Reske-Nielsen E, Nathan E, Rasmussen K
Department of Pediatrics A, Arhus Kommunehospital, University of Arhus, Denmark.
Clin Neuropathol. 1991 Mar-Apr;10(2):85-90.
The investigation of the brain from a seven-day-old girl who died from a disorder in the metabolism of methylmalonic acid revealed a severe reactive gliosis of the cerebral white matter and the deeper layers of the cortex, incomplete development of the fetal granular layer of the cerebellum and the Bergmann glial cells, and delayed myelination of the cerebellum, the brainstem, and the cervical spinal cord. We suggest that some of the described neuropathological findings are an immediate consequence of a disturbed methylmalonic acid metabolism starting in utero, and not exclusively a secondary phenomenon due to accumulation of metabolites and acidosis postpartum.
对一名因甲基丙二酸代谢紊乱而死亡的7日龄女婴的脑部进行调查发现，其脑白质和皮质深层出现严重的反应性胶质增生，小脑胎儿颗粒层和伯格曼胶质细胞发育不全，小脑、脑干和颈脊髓髓鞘形成延迟。我们认为，所描述的一些神经病理学发现是子宫内开始的甲基丙二酸代谢紊乱的直接后果，而不仅仅是产后代谢产物积累和酸中毒导致的继发现象。
