A family of McLeod syndrome, masquerading as chorea-acanthocytosis.

Abstract

A man, aged 52, is reported to show (1) adult onset, (2) progressive orofacial dyskinesia and choreic movements of the extremities, (3) tongue biting, (4) denervation of the peripheral nerves, (5) acanthocytosis, and (6) increased serum creatine kinase, which are characteristic of chorea-acanthocytosis. The Kell blood group examination on erythrocytes disclosed that the propositus had McLeod phenotype, and his mother and one of his sisters were carriers of the McLeod phenotype. Thus, he was diagnosed as having McLeod syndrome. A criterion of exclusion of McLeod phenotype on erythrocytes should be added to the diagnostic criteria of chorea-acanthocytosis. Moreover, chronic neurogenic changes instead of myogenic changes were electromyographically and histopathologically verified in the muscle.

• Authors: H Takashima, T Sakai, H Iwashita, Y Matsuda, K Tanaka, K Oda, Y Okubo, M E Reid
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 124 Issue 1 Pg. 56-60 (Jun 1994) ISSN: 0022-510X [Print] Netherlands
• PMID: 7931422 (Publication Type: Case Reports, Journal Article)

Chemical References

• Kell Blood-Group System

Topics

• Acanthocytes (ultrastructure)
• Chorea (blood, genetics, pathology)
• Echocardiography
• Erythrocytes (physiology)
• Flow Cytometry
• Humans
• Kell Blood-Group System
• Male
• Middle Aged
• Muscle, Skeletal (pathology)
• Neurodermatitis (genetics, pathology)
• Pedigree
• Psychomotor Disorders (blood, genetics, pathology)
• Skin (pathology)