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脑积水病人,双侧脑室明显扩大。脑积水是由于脑脊液吸收减少或回流受阻形成的。

Note the marked dilation of the cerebral ventricles. This is hydrocephalus. Hydrocephalus can be due to lack of absorption of CSF or due to an obstruction to flow of CSF.

脑积水病人头颅CT显示侧脑室明显扩大,已放置两个分流器治疗。

This is a computed tomographic (CT) scan demonstrating enlarged lateral ventricles in a patient with hydrocephalus. This condition has been treated by placing two shunts (the thin white objects).

无脑儿是胎儿颅穹窿缺陷。暴露在羊水内脑组织不能得到发育。无脑儿是神经管缺陷的一种类型,是单纯性先天性缺陷,与染色体异常无关。

Anencephaly is absence of the fetal cranial vault. Exposure of cerebral tissue to amniotic fluid precludes brain development. Anencephaly is a form of neural tube defect that is typically an isolated birth defect that is not related to chromosomal abnormalities.

无脑儿显示胎儿颅穹窿缺陷。作为神经管缺陷的一种类型,无脑儿的发病率过去被报道为1~5/1000。然而,由母亲妊娠期前或妊娠期的叶酸饮食供应能减少此种先天缺陷。目前在一些地方新生无脑儿发病率低于1/10000。

The absence of the fetal cranial vault in anencephaly is shown here. The incidence of anencephaly, one form of neural tube defect, has been reported to occur as frequently as 1 to 5 in 1000 live births in the past. However, dietary folic acid supplementation by mothers-to-be before and during pregnancy can reduce the incidence of such birth defects. The rate of anencephaly is now less than 1 in 10,000 live births in some places.

显微镜下,取自无脑儿颅底的“脑血管区域” 包括在不规则血管增生处散在的原始神经胶质组织成分。

Microscopically, the "area cerebrovasculosa" from the base of the skull from an anencephalic consists of scattered primitive neuroglial tissue elements within an irregular vascular proliferation.

较大的胸段脊膜脊髓膨出是神经管缺陷的另一种类型。亚甲基四氢叶酸还原酶基因突变导致的遗传多态现象可增加神经管缺陷(NTD)发生的危险性。叶酸为此酶作用后的产物,同时此酶也是细胞内同型半胱胺酸的部分代谢去路。C677T和A1298C突变使母体同型半胱胺酸水平升高,增加神经管缺陷发生的危险性。母亲妊娠期前或妊娠期增加叶酸摄入,将降低神经管缺陷发生的概率。

This large mid-thoracic meningomyelocele is another form of neural tube defect (NTD). The genetic polymorphisms due to mutations in the methylene tetrahydrofolate reductase gene may increase the risk for NTDs. Folate is a cofactor for this enzyme, which is part of the pathway of homocysteine metabolism in cells. The C677T and the A1298C mutations are associated with elevated maternal homocysteine concentrations and an increased risk for NTDs in fetuses. Mothers who supplement their diets with folate prior to and during pregnancy can often reduce this risk.

前脑无裂畸形,是一个较大正中线结构消失的脑室,包括丘脑。受影响的胎儿和新生儿存在典型的较重的面部缺陷,例如独眼畸胎。潜在的染色体异常,例如三倍体13,或母亲的糖尿病也是可能的原因。

This is holoprosencephaly in which there is a single large ventricle with fusion of midline structures, including thalami. The affected fetuses and neonates typically have severe facial defects, such as cyclopia, as well. Underlying chromosomal abnormalities, such as trisomy 13, or maternal diabetes mellitus are possible causes, but some cases are sporadic.

其症状表现较多,包括面部异常,与前脑无裂畸形同时出现的症状,可以用超声检测,因此产前诊断是可能的。这里所看到的球体内单个脑室代表前脑无裂畸形无脑叶类型,脑球并没分开。

There is a range of findings, including facial abnormalities, that can occur with holoprosencephaly, many of which can be seen in a fetus by ultrasound, so prenatal diagnosis is possible. The large single ventricle seen here inside a single hemisphere represents the "alobar" form of holoprosencephaly in which there was no division of hemispheres.

头颅被打开暴露“半月形” 前脑无裂畸形,因为存在一个小裂口似乎要分开两侧大脑半球。此处所示为无脑回类型(无脑回畸形 ),因为这个死产胎儿妊娠期少于20周。前脑无裂畸形是一种很严重的疾病,大脑功能很差或没有。

The skull is opened here to reveal the "semilobar" form of holoprosencephaly, because there is a small cleft representing an attempt to separate the hemispheres. There is no gyral pattern seen here (lissencephaly) because this stillborn fetus was under 20 weeks gestation. Holoprosencephaly is a grave condition with little or no brain function.

此处打开颅骨来自一个7-9月的死产胎儿,以显示积水性无脑畸形。在这种情况下,会出现例如动脉阻塞的子宫病变,它导致广泛的脑梗死,典型地会累及大脑半球。剩下的是薄薄的皮质边缘或包绕液体腔的脑膜神经胶质组织。

The skull is opened in this third trimester stillborn fetus to reveal hydranencephaly. In this condition, there is an intrauterine event, such as an arterial occlusion, which leads to extensive cerebral infarction, typically involving the hemispheres. All that is left is a thin rim of cortex or glial tissue with meninges surrounding a fluid-filled cavity.


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