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    X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.

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    Author
    Coman, D; Fullston, T; Shoubridge, C; Leventer, R; Wong, F; Nazaretian, S; Simpson, I; Gecz, J; McGillivray, G
    Date
    2017-01
    Source Title
    Child Neurology Open
    Publisher
    SAGE Publications
    University of Melbourne Author/s
    Leventer, Richard
    Affiliation
    Paediatrics (RCH)
    Metadata
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    Document Type
    Journal Article
    Citations
    Coman, D., Fullston, T., Shoubridge, C., Leventer, R., Wong, F., Nazaretian, S., Simpson, I., Gecz, J. & McGillivray, G. (2017). X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.. Child Neurol Open, 4, pp.2329048X17738625-. https://doi.org/10.1177/2329048X17738625.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/257594
    DOI
    10.1177/2329048X17738625
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680935
    Abstract
    X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Other multisystem manifestations included megacolon, colitis, pancreatic insufficiency hypothalamic dysfunction, hypothyroidism, and hypophosphatasia. A novel aristaless-related homeobox gene mutation, c.1136G>T/p.R379L, was identified. This case contributes to the clinical, histological, and molecular understanding of the multisystem nature of this disorder, especially the role of ARX in the development of the enteroendocrine system.

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