Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/118082
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Type: Journal article
Title: X-Linked lissencephaly with absent corpus callosum and abnormal genitalia: an evolving multisystem syndrome with severe congenital intestinal diarrhea disease
Author: Coman, D.
Fullston, T.
Shoubridge, C.
Leventer, R.
Wong, F.
Nazaretian, S.
Simpson, I.
Gecz, J.
McGillivray, G.
Citation: Child Neurology o\Open, 2017; 4:1-6
Issue Date: 2017
ISSN: 2329-048X
2329-048X
Statement of
Responsibility: 
David Coman, Tom Fullston, Cheryl Shoubridge, Richard Leventer, Flora Wong, Simon Nazaretian, Ian Simpson, Josef Gecz, and George McGillivray
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.
Keywords: ARX gene; XLAG; agenesis of the corpus callosum; congenital intestinal diarrheal diseases; diarrhea; enteroendocrine cells; lissencephaly; pancreatic insufficiency
Rights: ©The Author(s) 2017. This article is distributed under the terms of the Creative Commons Attribution 4.0 License (http://www.creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
RMID: 0030078339
DOI: 10.1177/2329048X17738625
Appears in Collections:Medicine publications

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