Department of Child and Adolescent Neurology Institute of Mother and Child, The Children's Memorial Health Institute, Warsaw, Poland.
Folia Neuropathol. 2009;47(4):314-20.
Adenylosuccinate lyase (ADSL) deficiency is an autosomal recessive disorder caused by mutation in the ADSL gene. The disease was identified in 1984 by Jaeken and van der Berghe as the first inborn defect of purine biosynthesis. Affected children revealed encephalopathy with epilepsy and marked psychomotor retardation. A neurological examination showed hypotonia, followed sometimes after years by spasticity. The diagnosis is based on detection in the urine and CSF succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide ribotide (SAICAr). We present brain MR examinations of seven patients with ADSL deficiency in the correlation with their clinical findings. In all cases lack of myelination or of delayed myelination of cerebral white matter was seen. Additionally cerebral and cerebellar atrophy was observed. Neuropathological findings revealed damage of all cellular elements of brain tissue and are cause of observed MR changes. Hypo/dysmyelination seemed to be secondary to damage of oligodendroglia and axons of damaged neuronal cells.
腺嘌呤琥珀酸裂解酶 (ADSL) 缺乏症是一种常染色体隐性遗传病，由 ADSL 基因突变引起。该疾病于 1984 年由 Jaeken 和 van der Berghe 确定为嘌呤生物合成的首个先天性缺陷。受影响的儿童表现为伴有癫痫的脑病和明显的精神运动发育迟缓。神经系统检查显示张力减退，数年后有时出现痉挛。诊断基于尿和 CSF 中琥珀酰腺苷（S-Ado）和琥珀酰氨基咪唑羧酰胺核苷酸（SAICAr）的检测。我们呈现了 7 例 ADSL 缺乏症患者的脑磁共振检查结果，并与他们的临床发现相关联。在所有情况下，均观察到脑白质髓鞘形成缺失或延迟。此外，还观察到大脑和小脑萎缩。神经病理学发现显示脑组织的所有细胞成分均受到损伤，这是观察到的磁共振变化的原因。低/发育不良性髓鞘形成似乎继发于少突胶质细胞和受损神经元细胞轴突的损伤。
