Academic Journal
أعرض في EDS

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia

التفاصيل البيبلوغرافية
العنوان: X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia
المؤلفون: David Coman FRACP, Tom Fullston PhD, Cheryl Shoubridge PhD, Richard Leventer PhD, Flora Wong FRACP, Simon Nazaretian FRCPA, Ian Simpson FRCPA, Josef Gecz PhD, George McGillivray FRACP
المصدر: Child Neurology Open, Vol 4 (2017)
بيانات النشر: SAGE Publishing
سنة النشر: 2017
المجموعة: Directory of Open Access Journals: DOAJ Articles
مصطلحات موضوعية: Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429
الوصف: 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.
نوع الوثيقة: article in journal/newspaper
اللغة: English
تدمد: 2329-048X
Relation: https://doi.org/10.1177/2329048X17738625; https://doaj.org/toc/2329-048X; https://doaj.org/article/a65086facd6c464abc5b7f864e3c3003
DOI: 10.1177/2329048X17738625
الاتاحة: https://doi.org/10.1177/2329048X17738625
https://doaj.org/article/a65086facd6c464abc5b7f864e3c3003
رقم الانضمام: edsbas.6AF02B3A
قاعدة البيانات: BASE
الوصف
تدمد:2329048X
DOI:10.1177/2329048X17738625