Description:
<jats:title>Key Clinical Message</jats:title><jats:p>Megalencephalic leukoencephalopathy (<jats:styled-content style="fixed-case">MLC</jats:styled-content>) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (<jats:styled-content style="fixed-case">MRI</jats:styled-content>). Here we report first finding of a novel homozygous single base deletion in the <jats:italic><jats:styled-content style="fixed-case">MLC</jats:styled-content>1</jats:italic> gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).</jats:p>