Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2011  |  Volume : 14  |  Issue : 1  |  Page : 53-55

Mcleod syndrome: Report of an Indian family with phenotypic heterogeneity


1 Department of Neurology and Hematology, Vivekananda Institute of Medical Sciences, Kolkatta, India
2 Department of Transfusion Medicine and Hematology, AMRI Hospitals, Kolkatta, India

Correspondence Address:
Ambar Chakravarty
1E 1202 AVISHIKTAII, Kolkatta - 700 078
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.78053

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The present report deals with the clinical phenomenology of three members (brothers) of one family with McLeod syndrome (MLS). In two, the clinical pictures were of choreiform disorders with amyotrophy, which were found to be neurogenic in origin by detailed electrophysiological study. The index case had peripheral acanthocytosis; immunohematological and molecular genetic studies confirmed diagnosis of MLS. However, one brother only had a slowly progressive motor neuron disease like picture but no abnormal movement disorder. He had peripheral acanthocytes as well. The inheritance seems to be X-linked recessive in nature. The affected family members exhibited much phenotypic heterogeneity. This appears to be the first report of MLS from India.


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