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Cerebral white matter abnormalities associated with chromosome 18q duplication

  • Jiayin Huang
    Affiliations
    Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada
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  • Christine Saint-Martin
    Affiliations
    Department of Medical Imaging, Montreal Children’s Hospital, McGill University Health Centre, Montreal, Quebec, Canada
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  • Guergana Tchakarska
    Affiliations
    McGill University Health Centre, Montreal, Quebec, Canada

    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
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  • Josée Lavoie
    Affiliations
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada

    Department of Pathology, McGill University, Montreal, Quebec, Canada
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  • Kenneth A. Myers
    Correspondence
    Corresponding author at: Montreal Children’s Hospital, McGill University Health Centre Glen Site, 1001 Boulevard Décarie, Montreal, PQ H4A 3J1, Canada.
    Affiliations
    Research Institute of the McGill University Medical Centre, Montreal, Quebec, Canada

    Division of Neurology, Department of Pediatrics, Montreal Children’s Hospital, McGill University Health Centre, Montreal, Quebec, Canada

    Department of Neurology and Neurosurgery, McGill University Health Centre, Montreal, Quebec, Canada
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      Abstract

      Background

      Chromosome 18q duplications are associated with a range of phenotypes often similar to complete trisomy 18, variably including poor growth, feeding difficulties, congenital malformations and dysmorphic facial features. Although 18q duplication patients may have seizures and developmental impairment, brain MRI typically shows only variable degrees of cerebral atrophy.

      Patient

      We present a boy with a 52.2 Mb 18q duplication in whom brain MRI in the neonatal period showed striking white matter abnormalities, most notable in the frontal lobes. His clinical presentation was otherwise in keeping with trisomy 18, including characteristic facial features, hypotonia, cardiac malformation, rocker bottom feet, pectus excavatum, short and broad thumbs and halluces, and diabetes insipidus.

      Conclusion

      Since not previously reported in association with 18q duplication, the observation of cerebral white matter anomalies is particularly interesting. This radiologic pattern is a well-recognized feature of 18q deletion syndrome, hypothesized by many to occur due to haploinsufficiency of MBP, the gene encoding myelin basic protein. The mechanisms leading to the white matter anomalies in this patient remain unexplained.

      Keywords

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