Devlin A M, Hajipour L, Gholkar A, Fernandes H, Ramesh V, Morris A A M
Departments of Paediatric Neurology and Neurosurgery, Newcastle General Hospital, Newcastle-upon-Tyne, United Kingdom.
J Pediatr. 2004 Apr;144(4):545-8. doi: 10.1016/j.jpeds.2003.12.041.
A child with cystathionine beta-synthase deficiency developed cerebral edema 4 to 6 weeks after starting betaine therapy. There was no evidence of intracranial thrombosis, but there was widespread edema of the white matter. He recovered fully after emergency decompressive craniotomy and withdrawal of betaine.
一名患有胱硫醚β-合酶缺乏症的儿童在开始甜菜碱治疗4至6周后出现脑水肿。没有颅内血栓形成的证据，但存在广泛的白质水肿。在紧急减压开颅手术并停用甜菜碱后，他完全康复。
