A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs

摘要

MRI fluid-attenuated inversion recovery axial image shows atrophy of the caudate nuclei (arrowheads) and putamen (arrows) bilaterally. Erythrocyte acanthocytosis present in a peripheral blood smear. Flow cytometry revealed reduced Kell red blood cell antigens in the peripheral blood (red peak indicates the present case). Sequencing of the gene disclosed mutation c.397C > T (p.Arg133Ter) in exon 2