McLeod syndrome; McLeod neuroacanthocytosis syndrome

Introduction

Defined on the basis of abnormal expression of Kell blood group antigens; characterized by absence of Kx antigen, associated with marked reduction of all Kell antigens.

Pathology

• striatal degeneration
• hematopoietic dysfunction

Genetics

• defects in XK are the cause of McLeod syndrome

Clinical manifestations

• late onset
• chorea
• seizure
• cognitive impairment
• muscular dystrophy, late onset
• cardiomyopathy
• acanthocytosis

Laboratory

• elevation of serum creatine kinase MM (muscle isoform)

Differential diagnosis

• Huntington's disease
• chorea-acanthocytosis (Levine-Critchley syndrome)

More general terms

• X-linked disease
• hematologic disease (blood disorder, blood dyscrasia)
• neurodegenerative disease
• basal ganglia disease
• syndrome

Patient information

McLeod syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/314850