Τίτλος:
Moya moya syndrome in a child with pyruvate kinase deficiency and
combined prothrombotic factors
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
A 13-year-old Greek girl with pyruvate kinase deficiency and moya moya
angiographic pattern is reported. She also had raised serum lipoprotein
(a) concentration and was homozygous for the C677T mutation of the
methylenetetrahydrofolate reductase gene. She presented with neonatal
onset of anemia, hemolytic and aplastic crises, especially during
infections, stroke, and also progressive motor and mental deterioration.
A digital cranial angiography at 13 years revealed the typical
angiographic findings of moya moya angiopathy. This is likely the first
patient with pyruvate kinase deficiency and moya moya syndrome and also
the combination of elevated serum lipoprotein (a) concentration and the
C677T mutation of the methylenetetrahydrofolate reductase gene to be
reported. In patients with pyruvate kinase deficiency and moya moya
syndrome, a search for raised serum lipoprotein (a) concentrations and
the C677T mutation of the methylenetetrahydrofolate reductase gene
should be considered.
Συγγραφείς:
Skardoutsou, Angeliki
Voudris, Konstantinos A.
Mastroyianni,
Sotiria
Vagiakou, Eleni
Magoufis, George
Koukoutsakis, Peter
Περιοδικό:
Journal of Child Neurology
Εκδότης:
SAGE Publications Inc.
Λέξεις-κλειδιά:
pyruvate kinase deficiency; moya moya syndrome; lipoprotein (a); C677T
mutation of the methylenetetrahydrofolate; reductase gene
DOI:
10.1177/0883073807301934
