- 期刊
Holoprosencephaly Presenting as Membranous Aplasia Cutis and Diabetes Insipidus: Report of One Case
以膜性皮膚缺損及尿崩表現之全臆腦畸形之病例報告
摘要
一個二個月大的小男嬰因尿崩症伴隨有高血鈉入院，更深檢查發現在頭項上有一獨特的'hair collar'徵象，是爲先天性皮膚缺損的一種罕見的臨床表現，影像檢查證實爲一全前腦畸形。單純先天性皮膚缺損併有先天性腦畸形的安全不多，但如果是用膜狀的形態表現，且在病灶周轉有一圈長長的、濃密的毛髮：此一特殊的外觀叫做'hair collar'徽象，它伴隨有中樞神經系統畸形的情形會大大提昇，特別是神經管缺陷(neural tube defect)。我們報告一例2個多月大的男嬰，在理學檢查發現其為一全前腦畸形形的安全。所以本文的目的是在提醒臨床醫師，如果發現膜狀的先天性皮膚缺損，則極有可能會有中樞神經系統畸形的情形，因此必須做詳細的腦部影像學檢查。
並列摘要
Membranous aplasia cutis is characterized by the presence of a cystic-like nodule located at the midline of the scalp, which is surrounded by a ring of long, dark hair, called a ‘hair collar’ sign; it always contributes to underlying central nervous malformation. Herein, we report a 2-month-old male infant who was admitted to our ward due to diabetes insipidus complicated with hypernatremia. Physical examination revealed the unique ‘hair collar’ sign, which is a rare presentation of congenital aplasia cutis. Imaging study revealed holoprosencephaly. Thus, the aim of this report is to remind pediatrician that in a neonate who has “membranous aplasia cutis” with hair collar sign, imaging studies, including brain sonography, computed tomography or magnetic resonance imaging of the brain, should be performed because of the great possibility of underlying central nervous system malformation.