• Bo Chen, Wenchen Li, Xiaodan Wang, Kexin Chen, and Xinyu Hong.
• Department of Neurosurgery (Neurotrauma), the First Hospital of Jilin University, Changchun, China.
• World Neurosurg. 2019 Jul 1; 127: 1-7.

BackgroundCongenital 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.Case DescriptionHere 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.ConclusionsAlthough there is no cure for this disorder so far, the huge progressive intracerebral cyst can be cured by a cyst-peritoneal shunt.Copyright © 2019 Elsevier Inc. All rights reserved.

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