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Mcleod syndrome: Report of an Indian family with phenotypic heterogeneity.

Chakravarty A, Bhattacharya P, Banerjee D, Mukherjee S - Ann Indian Acad Neurol (2011)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology and Hematology, Vivekananda Institute of Medical Sciences, Kolkatta, India.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

Peripheral blood film of Case 1 showing acanthocytes (×1000)
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Figure 0001: Peripheral blood film of Case 1 showing acanthocytes (×1000)

Mentions: Hematological and molecular investigations: His peripheral smear examination with Leishman stain showed an abnormally high percentage of acanthocytes red cells with spiny projections from the cell membrane (75%)(done by PB and DB). No special procedures for demonstration were needed [Figure 1].


Mcleod syndrome: Report of an Indian family with phenotypic heterogeneity.

Chakravarty A, Bhattacharya P, Banerjee D, Mukherjee S - Ann Indian Acad Neurol (2011)

Peripheral blood film of Case 1 showing acanthocytes (×1000)
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3108081&req=5

Figure 0001: Peripheral blood film of Case 1 showing acanthocytes (×1000)
Mentions: Hematological and molecular investigations: His peripheral smear examination with Leishman stain showed an abnormally high percentage of acanthocytes red cells with spiny projections from the cell membrane (75%)(done by PB and DB). No special procedures for demonstration were needed [Figure 1].

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology and Hematology, Vivekananda Institute of Medical Sciences, Kolkatta, India.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus