Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodystrophy that presents with macrocephaly, seizures, slowly progressive gross motor deterioration, and MRI evidence of diffuse symmetric white matter swelling and subcortical cysts in the anterior temporal and frontoparietal regions. Later in the disease course, significant spasticity and ataxia develop, which may be accompanied by intellectual deterioration. This disease is caused mostly by biallelic pathogenic variants in the MLC1 gene.

العنوان

brain and development journal

الناشر

Elsevier

بلد الناشر

هولندا

Indexing

Scopus

معامل التأثير

1,961

نوع المنشور

إلكتروني فقط

المجلد

44

السنة

2022

الصفحات

8