Case ReportRearrangement of Chromosome 14q with Associated White Matter Disease
Introduction
Combination of deletion and duplication on chromosome 14 have been rarely reported [1]. Terminal 14q deletions have been reported to have a distinct phenotype of intellectual disability, seizures, postnatal growth retardation, and dysmorphic features such as high forehead, thin upper lip, and telecanthus [2], [3], [4]. Chromosome 14q duplications have been reported to manifest with intellectual disability, growth retardation, dysmorphism, hypotonia or spasticity, and seizures [5]. White matter changes, however, have not been reported to be associated with copy number variations on chromosome 14q. Copy number variations have been associated with white matter abnormalities linked to other genomic locations such as partial deletions of chromosome 18p [6], [7], [8].
Here we report the case of a 29-month-old boy with a de novo complex rearrangement of the terminal end of chromosome 14q with pyramidal tract dysfunction and a periventricular white matter hyperintensities on magnetic resonance imaging (MRI).
Section snippets
Case Report
A 29-month-old boy born to nonconsanguineous parents was initially assessed in our pediatric neurology clinic at age 19 months for evaluation of developmental delay. His mother was a healthy 29-year-old of European descent, and his father was a healthy 31-year-old of Cree (Aboriginal Canadian) descent. The family and birth history were unremarkable. Birth weight at term was 2,660 g. There was no history of asphyxia at birth. In the immediate postpartum period, he had a few asymptomatic episodes
Discussion
We report the case of a 29-month-old boy with gross motor delay, pyramidal tract dysfunction, and periventricular white matter hyperintensities on MRI with a complex rearrangement of the terminal end of chromosome 14 involving both deletion and duplication. The white matter abnormalities observed suggest that chromosome 14.32q31q33 rearrangements can mimic the symmetrical T2 hyperintensities found in periventricular leukomalacia. There are only a few reports of unexplained spasticity being
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