Cyst-Peritoneal Shunt for the Treatment of a Progressive Intracerebral Cyst Associated with ASNS Mutation: Case Report and Literature Review

Background 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. Case Description 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. Conclusions Although there is no cure for this disorder so far, the huge progressive intracerebral cyst can be cured by a cyst-peritoneal shunt.