Mcleod Syndrome

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Contents 1 Introduction 2 Pathology 3 Genetics 4 Clinical-manifestations 5 Laboratory 6 Differential-diagnosis 7 More General Terms 8 Internet Database 9 References

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

Internet Database

OMIM: 314850

References

Ho et al. Cell 77:869-80 1994

McLeod syndrome