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.
Malandrini
A
A
Institute of Neurological Sciences, University of Siena, Policlinico Le Scotte, Italy.
Fabrizi
G M
GM
Truschi
F
F
Di Pietro
G
G
Moschini
F
F
Bartalucci
P
P
Berti
G
G
Salvadori
C
C
Bucalossi
A
A
Guazzi
G
G
D000368:Aged; D000369:Aged, 80 and over; D015139:Blotting, Southern; D001921:Brain / Q000473:pathology; D002311:Cardiomyopathy, Dilated / Q000097:blood / Q000235:genetics* / Q000473:pathology; D002819:Chorea / Q000097:blood / Q000235:genetics* / Q000473:pathology; D004562:Electrocardiography; D004912:Erythrocytes / Q000276:immunology; D008040:Genetic Linkage; D006801:Humans; D007626:Kell Blood-Group System / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009468:Neuromuscular Diseases / Q000097:blood / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology; D013577:Syndrome; D014960:X Chromosome
D007626:Kell Blood-Group System