Article
A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene.
Minerva pediatrica - 1 Apr 2011
Delmonaco A G, Gaidolfi E, Scheper G C, Girardo E, Molinatto C, Belligni E, Ferrero G B, Cirillo Silengo M, Van Der Knaap M
Abstract excerpt
Megalencephaly is as a rule accompanied by macrocephaly, an occipitofrontal circumference (OFC) greater than the 98th percentile. Megalencephaly is divided into an anatomic type (developmental) and a metabolic type. Metabolic megalencephaly refers to various storage and degenerative encephalopathies. The differential diagnosis includes Alexander's disease, Canavan's disease, glutaric aciduria type 1, GM1 and GM2...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.