Show simple item record

dc.contributor.authorComan, D
dc.contributor.authorFullston, T
dc.contributor.authorShoubridge, C
dc.contributor.authorLeventer, R
dc.contributor.authorWong, F
dc.contributor.authorNazaretian, S
dc.contributor.authorSimpson, I
dc.contributor.authorGecz, J
dc.contributor.authorMcGillivray, G
dc.date.accessioned2020-12-21T04:22:10Z
dc.date.available2020-12-21T04:22:10Z
dc.date.issued2017-01
dc.identifierpii: 10.1177_2329048X17738625
dc.identifier.citationComan, 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.
dc.identifier.issn2329-048X
dc.identifier.urihttp://hdl.handle.net/11343/257594
dc.description.abstractX-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.
dc.languageeng
dc.publisherSAGE Publications
dc.titleX-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.
dc.typeJournal Article
dc.identifier.doi10.1177/2329048X17738625
melbourne.affiliation.departmentPaediatrics (RCH)
melbourne.source.titleChild Neurology Open
melbourne.source.volume4
melbourne.source.pages2329048X17738625-
dc.rights.licenseCC BY
melbourne.elementsid1281116
melbourne.openaccess.pmchttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680935
melbourne.contributor.authorLeventer, Richard
dc.identifier.eissn2329-048X
melbourne.accessrightsOpen Access


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record