Gupta Ashish O, Leblanc Patrick, Janumpally Krishna C, Tanya Pattaraporn
Department of Pediatrics, The Brooklyn Hospital Center, Brooklyn, New York 11201, USA.
Cases J. 2010 Jan 22;3:35. doi: 10.1186/1757-1626-3-35.
Holoprosencephaly (HPE) is a rare presentation in newborns. It refers to an incomplete or absent division of the prosencephalon or forebrain into distinct cerebral hemispheres.
A preterm baby girl, first of dizygotic twins, born at 26 weeks of gestation to a 45 year old mother, was prenatally diagnosed with ventriculomegaly on fetal ultrasonogram. At birth the baby had frontal bossing with sun setting eyes and a full anterior fontanel. Initial head ultra-sonography (HUS) showed ventriculomegaly and semilobar holoprosencephaly, which was confirmed by computed tomography scan. Subsequently, the baby developed hydrocephalus that progressively increased. Eventually, the cerebrospinal fluid required drainage and a ventriculo-peritoneal shunt was placed.
Holoprosencephaly has heterogeneous etiologies, including teratogenic and or a genetic basis. It is prudent to diagnose holoprosencephaly prenatally and determine the type to classify severity, complications and survival rate. It is also important to recognize that even with monozygotic twins only one twin may have HPE. The parents of a baby diagnosed with holoprosencephaly should be counseled about the poor prognosis.
前脑无裂畸形（HPE）在新生儿中较为罕见。它指的是前脑或端脑未能完全或完全未分裂为不同的脑半球。
一名早产女婴，为双卵双胞胎中的老大，孕26周时由一位45岁母亲产下，产前超声检查诊断为脑室扩大。出生时，婴儿有前额突出、落日眼和前囟饱满。最初的头部超声检查（HUS）显示脑室扩大和半侧脑叶型前脑无裂畸形，计算机断层扫描予以证实。随后，婴儿出现进行性加重的脑积水。最终，需要进行脑脊液引流并置入脑室-腹腔分流管。
前脑无裂畸形有多种病因，包括致畸因素和/或遗传基础。产前诊断前脑无裂畸形并确定类型以对严重程度、并发症和存活率进行分类是谨慎之举。同样重要的是要认识到，即使是单卵双胞胎，也可能只有一个患有HPE。对于被诊断为前脑无裂畸形的婴儿的父母，应告知其预后不良。
