全前脑畸形伴神经源性高钠血症：一例新病例。
Holoprosencephaly with neurogenic hypernatremia: a new case.
作者信息
Savasta S, Chiapedi S, Borali E, Perrini S, Sepe V, Caimmi S, Marseglia G L
机构信息
Department of Pediatrics, IRCCS Policlinico S. Matteo, University of Pavia, Piazzale Golgi, 2, 27100, Pavia, Italy.
出版信息
Childs Nerv Syst. 2008 Jan;24(1):139-42. doi: 10.1007/s00381-007-0431-5. Epub 2007 Aug 7.
BACKGROUND
Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and mid-face in humans. It is a disorder of neural induction in which a genetic programming defect results in noncleavage of the forebrain in the sagittal plane and variable hypoplasia of paramedian structures. It occurs in 5-12/10,000 live births. Clinically, there is a nearly continuous spectrum of malformations consistent with HPE. Endocrinopathies, such as diabetes insipidus, hypothyroidism, hypocorticism, and growth hormone deficiency, are frequently associated with HPE. Seizures may occur.
CASE REPORT
We report a new case of semilobar-HPE complicated by neurogenic hypernatremia and no signs of dehydration in a child with microcephaly, spasticity, mental and psychomotor retardation, frontal bones hypoplasia, and mild facial dysmorphism.
背景
前脑无裂畸形（HPE）是人类前脑和中面部最常见的发育缺陷。它是一种神经诱导障碍，其中基因编程缺陷导致前脑在矢状面未分裂以及正中旁结构不同程度的发育不全。其发生率为每10000例活产中有5 - 12例。临床上，存在一系列几乎连续的与HPE相符的畸形。内分泌病，如尿崩症、甲状腺功能减退、肾上腺皮质功能减退和生长激素缺乏，常与HPE相关。可能会发生癫痫。
病例报告
我们报告一例半侧脑叶型HPE的新病例，该病例并发神经源性高钠血症，患儿有小头畸形、痉挛、智力和精神运动发育迟缓、额骨发育不全以及轻度面部畸形，但无脱水迹象。
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