title: Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction.
abstract: Posterior circulation vascular occlusive disease in children is a rare and uncommonly reported event. Among the numerous risk factors, the methylenetetrahydrofolate reductase (MTHFR) mutation is considered to be a common genetic cause of thrombosis in adults and children. Recently, a link between the MTHFR mutation and cerebrovascular disorders was reported in children. Diffusion tensor imaging (DTI) is a great improvement on magnetic resonance imaging (MRI), making the in vivo anatomical and pathological study of the brain and its fibers possible. In our patient cerebellar infarction was associated with MTHFR mutation and, in a standard neurological examination, DTI revealed normal white matter tracts.
authors: Division of Child Neurology.
authors: Alberto
authors: A
authors: Spalice
authors: Francesca
authors: F
authors: Del Balzo
authors: Francesco Massimo
authors: FM
authors: Perla
authors: Enrico
authors: E
authors: Properzi
authors: Carla
authors: C
authors: Carducci
authors: Italo
authors: I
authors: Antonozzi
authors: Paola
authors: P
authors: Iannetti
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