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Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family.
Malandrini, A; Fabrizi, G M; Truschi, F; Di Pietro, G; Moschini, F; Bartalucci, P; Berti, G; Salvadori, C; Bucalossi, A; Guazzi, G.
Affiliation
  • Malandrini A; Institute of Neurological Sciences, University of Siena, Policlinico Le Scotte, Italy.
J Neurol Sci ; 124(1): 89-94, 1994 Jun.
Article in En | MEDLINE | ID: mdl-7931427
We report a family with three members affected by a typically X-linked McLeod syndrome. In the proband a very weak positivity for antigens of the Kell group was detected. His sister showed a normal antigenic pattern. We emphasize the prominent neurological picture characterized by a choreic syndrome with atrophy of the caudate nucleus on MRI, psychiatric disturbances, peripheral nerve and muscle biopsy findings indicating slight neuromuscular involvement, and cardiac abnormalities. The differential diagnosis is discussed.
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Dilated / Chorea / Neuromuscular Diseases Limits: Aged / Aged80 / Humans / Male / Middle aged Language: En Journal: J Neurol Sci Year: 1994 Document type: Article Affiliation country: Italy Country of publication: Netherlands
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Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Dilated / Chorea / Neuromuscular Diseases Limits: Aged / Aged80 / Humans / Male / Middle aged Language: En Journal: J Neurol Sci Year: 1994 Document type: Article Affiliation country: Italy Country of publication: Netherlands