Department of Neurosurgery (Neurotrauma), the First Hospital of Jilin University, Changchun, China.
The First Hospital and Institute of Immunology, Jilin University, Changchun, China.
World Neurosurg. 2019 Jul;127:1-7. doi: 10.1016/j.wneu.2019.02.130. Epub 2019 Mar 4.
Congenital microcephaly could result from a gene mutation. Asparagine synthetase deficiency, which is caused by the asparagine synthetase (ASNS) mutation, is a rare autosomal-recessive neurometabolic disorder. It is characterized by severe developmental delay, congenital microcephaly, and seizures.
Here we present the first report on a progressive intracerebral cyst associated with ASNS mutation, which caused neurodevelopmental dysplasia. ASNS mutation was confirmed by whole-exome sequencing and is the most likely reason for the neurodevelopmental dysplasia, which results in microcephaly, refractory seizures, and congenital visual impairment. Antiepileptic drugs have limited therapeutic effect on these epileptic seizures.
Although there is no cure for this disorder so far, the huge progressive intracerebral cyst can be cured by a cyst-peritoneal shunt.
先天性小头畸形可能由基因突变引起。天冬酰胺合成酶缺乏症是一种由天冬酰胺合成酶（ASNS）突变引起的罕见常染色体隐性神经代谢疾病。其特征为严重的发育迟缓、先天性小头畸形和癫痫发作。
本文首次报道了一例与 ASNS 突变相关的进行性颅内囊肿，导致神经发育不良。ASNS 突变通过全外显子组测序得到确认，是导致神经发育不良的最可能原因，导致小头畸形、难治性癫痫发作和先天性视力障碍。抗癫痫药物对此类癫痫发作的治疗效果有限。
尽管目前尚无针对这种疾病的治疗方法，但巨大的进行性颅内囊肿可通过囊肿-腹腔分流术治愈。
