[Familial cerebral degeneration with myocardial involvement and dyserythropoiesis].
A combination of dyserythropoietic anaemia, encephalopathy and cardiomyopathy was found in two siblings of different sex. They shared the same clinical history and pathomorphology what made authors suppose that it was a new not yet described syndrome with presumed autosomal recessive heredity.
Oddĕlení patologie, OUNZ Benesov w Prahy.
A
A
Karpenko
A
A
Jirásek
O
O
Hrodek
V
V
Spicáková
K
K
Cerný
K
K
Smetana
D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications / Q000235:genetics*; D001284:Atrophy; D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009206:Myocardium / Q000473:pathology
Familiární cerebrální degenerace s postizením myokardu a dyserytropoesou.