[患有缺指（趾）-外胚层发育不良-唇腭裂综合征的儿童出现神经源性高钠血症伴渴感缺失及脑畸形]

[Neurogenic hypernatremia with adipsia and cerebral malformations in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate syndrome].

作者信息

Ronconi G F, Ronconi M, Stella M, Soffiati G, Pesenti P

出版信息

Pediatr Med Chir. 1985 Nov-Dec;7(6):893-7.

Abstract

An infant with E.E.C. Syndrome (a genetic condition characterized by: Ectrodactyly, Ectodermal dysplasia, Cleft Lip-Palate) and delayed psychomotor development was found to have chronic hypernatremia and absence of thirst. Computerized brain tomography revealed abnormal lateral ventricles, agenesis of corpus callosum, calcified cortex. His plasma Anti Diuretic Hormone (ADH) levels were inappropriately low relative to his high values of plasma osmolality, whereas ADH responsiveness to nonosmotic stimuli was normal. E.E.C. Syndrome in this baby is characterized by: ectrodactyly of the feet, syndactyly of the 3rd and 4th finger of the hands, bilateral cleft lip and cleft palate, bilateral microtia, lacrimal ductular stenosis. To our knowledge, this is the first report of a case of chronic hypernatremia in conjunction with normal ADH stores, congenital abnormalities of brain structures, and E.E.C. syndrome.

摘要

一名患有E.E.C.综合征（一种以缺指（趾）畸形、外胚层发育不良、唇腭裂为特征的遗传性疾病）且精神运动发育迟缓的婴儿，被发现患有慢性高钠血症且无口渴感。计算机断层扫描显示侧脑室异常、胼胝体发育不全、皮质钙化。相对于其高血浆渗透压值，他的血浆抗利尿激素（ADH）水平异常低，而ADH对非渗透性刺激的反应正常。该婴儿的E.E.C.综合征特征为：足部缺指（趾）畸形、双手第3和第4指并指、双侧唇腭裂、双侧小耳畸形、泪小管狭窄。据我们所知，这是首例伴有正常ADH储备、脑结构先天性异常和E.E.C.综合征的慢性高钠血症病例报告。