X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.
复制标题
DOI：
10.1177/2329048x17738625
复制
发表时间：
2017-01
影响因子：
--
通讯作者：
McGillivray G
中科院分区：
文献类型：
--
作者：
Coman D;Fullston T;Shoubridge C;Leventer R;Wong F;Nazaretian S;Simpson I;Gecz J;McGillivray G
X连锁无脑畸形伴外生殖器异常是一种罕见的破坏性综合征。作者介绍了一例多系统表型的婴儿，其肠道表现与中枢神经系统的特征一样具有寿命限制。严重的慢性腹泻导致无法生长，脱水，电解质紊乱，长期住院，并促使过渡到姑息治疗。其他多系统表现包括巨结肠、结肠炎、胰腺功能不全、下丘脑功能障碍、甲状腺功能减退和低磷。发现了一个新的与干旱相关的同源框基因突变c.1136G>；T/p.R379L。这一病例有助于临床、组织学和分子生物学对这种疾病的多系统性质的理解，特别是ARX在肠道内分泌系统发展中的作用。
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.