ATYPICAL MCLEOD SYNDROME MANIFESTED AS X-LINKED CHOREA-ACANTHOCYTOSIS, NEUROMYOPATHY AND DILATED CARDIOMYOPATHY - REPORT OF A FAMILY

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.