大脑肌酸缺乏综合征1例报告并文献复习

摘要

目的：探讨大脑肌酸缺乏综合征（ CCDS）的诊断及治疗要点，提高对CCDS的认识。方法报道1例CCDS患者的临床资料，并结合相关文献进行回顾性分析。结果本例患者为青年男性，临床表现为智力障碍、语言发育迟缓、癫痫发作、性格孤僻等。头颅MRI提示右侧大脑半球发育小，左侧大脑半球脑回、脑白质发育异常，胼胝体发育异常。脑电图提示双侧额、中央、颞导联可见棘波、多棘波、多棘慢波暴发与4～5 Hz慢波交替出现。基因检测提示患者携带GAMT基因c．242C＞T（p．A81V ）杂合错义突变。诊断为CCDS。经补充肌酸、抗癫痫、营养神经等治疗后，未有癫痫发作，但是记忆力、计算力、理解力等高级皮质功能改善不明显。结论患者表现为生长发育迟缓、智力缺陷和严重的言语障碍等症状时，要考虑到CCDS可能。对此类患者应及早行AGAT、GAMT和SLC6 A8基因检测，以明确诊断、及早干预。%Ob jetc ive To discuss the diagnosis and treatment key points of cerebral creatine deficiency syndromes ( CCDS) to improve the understanding of the disease .Methods A retrospective study was performed to analyze the clin-ical data from one patient with CCDS , in accordance with relevant literature .Results This patient was a young men who presented intellectual disabilities , language development delay , seizures and autism spectrum disorders .Brain MRI re-vealed brain atrophy in the right hemisphere and abnormal development in the gyrus and white matter in the left hemi -sphere and the corpus callosum .Electroencephalography (EEG) showed alternating bursts of spike waves , multiple spike waves and multiple spike slow waves and 4-5 Hz slow waves in the bilateral frontal , central and temporal cortex .Ac-cording to genetic testing, he carried GAMT gene with a heterozygous missense mutation of c .242C>T (p.A81V).The patient was diagnosed with cerebral creatine deficiency syndromes .After treated with oral creatine , antiepileptic drugs and neurotrophic medicines , his seizure disorder was controlled , but no obvious improvements were observed in higher cortical function , such as memory , calculation skills and understanding .Conclusions It is necessary to consider CCDS when patients show developmental delay , intellectual deficiency and severe dysphonia .It is necessary for these patients to undergo early genetic measurement of AGAT , GAMT and SLC6A8 for clear diagnosis and early interference .