Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

We present the MRI findings in five patients with congenital muscular dystr ophy (CMD) and merosin (laminin alpha 2) deficiency, which was total in one and partial in four. In one patient with partial merosin deficiency, MRI w as normal. The other four patients had supratentorial white matter abnormal ities. In three, T2-weighted images revealed subcortical, deep lobar and pe riventricular high signal in white matter, while in the other there were on ly small peritrigonal areas of increased signal. On T1-weighted images, the re was slightly low signal. Cortical abnormalities were absent. None of the se changes were accompanied by symptoms or signs of central nervous system involvement. White matter abnormalities in a patient with CMD should prompt investigation of merosin.