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【读片】产科疑难超声病例（293）：孤立性透明隔缺失

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上一病例：【读片】产科疑难超声病例（292）：肺动脉瓣缺如综合症

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This is a case of a 35-year-old patient, G2P1, with non-contributive personal or familial history. Her pregnancy was uneventful, she did not report any drug use. Blood tests for HIV, TORCH, hepatitis B and C were all negative.

Ultrasound scan at 21 weeks of gestation revealed the following ultrasound findings on the images below. There were no extracranial abnormalities detected. Maternal serum and urinary estriol levels were normal.
患者35岁，G2p1，无明显家族史和个人病史。此次妊娠平稳，自述未曾服用任何药物。血HIV和TORCH以及HBV、HCV检测阴性。孕21周时超声检查如下，其他未见异常。血尿雌三醇水平正常。

Images 1-8: 21 weeks.

视频1、2

Images 9-13: MRI images of the fetal brain.

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2011-05-13 10:56 浏览 : 16131 回复 : 97

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xihuansushi 编辑于 2011-06-02 07:46

• 乡镇夜班感慨

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感谢楼上的几位替我贴出并翻译了部分内容。

Case report

This is a case of a 35-year-old patient, G2P1, with non-contributive personal or familial history. Her pregnancy was uneventful, she didn't report any drug use. Blood tests for HIV, TORCH, hepatitis B and C were all negative.

患者35岁，G2p1，无明显家族史和个人病史。此次妊娠平稳，自述未曾服用任何药物。血HIV和TORCH以及HBV、HCV检测阴性。

Ultrasound scan at 21 weeks of gestation revealed an absent septum pellucidum both in axial and in coronal views. Communication between the frontal horns was noted. Corpus callosum was of normal appearance and length. No other cranial or extracranial anomalies were detected.
孕21周时超声检查在轴向切面和冠状切面均显示透明隔缺失，侧脑室前角贯通。胼胝体外形及大小正常，未见其他脑内和颅外异常。

Maternal serum and urinary estriol levels excluded fetal adrenal insufficiency due to pituitary hypoplasia.
A fetal MRI was performed at 22 weeks and showed the isolated absence of the septum pellucidum. The optic nerves were normal which excluded septo-optic dysplasia.
母体血尿雌三醇水平正常，可以排除由于母体垂体功能不良导致胎儿肾上腺功能减退的可能。晕22周行胎儿MRI检查显示为孤立性透明隔缺失。视神经正常，排除视隔发育不良。

Parents did not agree with suggested amniocentesis and decided to continue the pregnancy. Patient delivered at term via scheduled cesarean section. Neonate was healthy and karyotype was normal, 46 XY. Boy is 14 months old and the moment and is doing great. At the medical check-up at the age of 12 months he had normal height and weight and normal head circumference. His neural and physical development did not show any abnormalities. He did not suffer from any visual or endocrine abnormalities.

父母拒绝羊膜穿刺而继续妊娠，并经剖腹产分娩。新生儿健康，核型正常46XY。婴儿目前14个月大，活动良好。在其12个月大复查时，其身高和体重以及头围正常，无神经及生理发育的异常，也没有视觉或内分泌异常。

Images 1,2: Image 1 shows a sagittal view of the fetal head, note normal profile, present nasal bone and corpus callosum. Image 2 shows an axial view, anterior horns are fused, there is no visible cavum septum pellucidum.
Images 3,4: Axial and coronal view, images show fused anterior horns.

图1显示胎儿头部矢状面，其外形正常，存在正常的鼻骨和胼胝体；图2为轴向切面，前角融合，未发现透明隔腔；图3、4为轴向和冠状切面，显示侧脑室前角融合。

Images 5,6: Image 5 shows fused anterior horns. Image 6 shows a corpus callosum.
Images 7,8: Image 7 shows posterior horns of the lateral ventricles. Image 8 shows the middle cerebral artery.

图5显示前角融合；图6显示胼胝体；图7显侧脑室后角；图8显示大脑中动脉。

Videos 1,2: Video 1 shows an axial view of the brain, note absent cavum septum pellucidum and fused anterior horns of the lateral ventricles. Video 2 shows the coronal view, note the fusion of the anterior horns.
视频1显示脑部轴向切面，可看到透明隔腔缺失，侧脑室前角融合；视频2显示冠状切面，可见前角融合。

Images 9,10: MRI images of the fetal brain. Image 9 shows a normal optic tracts. Image 10 shows a coronal view of the brain, note a missing cavum septum pellucidum.
图9显示正常的视神经；图10为冠状面，显示透明隔缺失。

Images 11,12: Images show an axial view of the fetal brain, lateral ventricles with absent cavum septum pellucidum.
图像为脑部轴向切面，显示曹氏和透明隔腔缺失。

Image 13: Sagittal view showing corpus callosum.
矢状面显示胼胝体。

2011-05-29 10:00

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xihuansushi 编辑于 2011-05-30 19:09

• 盆腔肿物，少见病例，病理出来了，请你诊断

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xihuansushi

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关于“孤立性透明隔缺失”，一下资料有详细的介绍，我就不翻译了，如果有能力有兴趣，欢迎大家翻译出来。加分是肯定滴，至少也得1分鼓励，优秀的2分哈。

Isolated absence of the septum pellucidum

Introduction

The septum pellucidum is a thin vertical membrane that connects the corpus callosum to the columns of the fornix and separates the lateral ventricles. The septum has a right and left leaf, which are part of the medial hemispheric border.

The cavum septum pellucidum is reliably visible prenatally by ultrasonography and its size can be accurately quantified. In normal fetuses, the cavum septum pellucidum should always be visualized between 18 and 37 weeks and a biparietal diameter between 44 and 88 mm [1]. Failure to detect the cavum septum pellucidum within this time interval or increased size of the cavum may indicate abnormal cerebral development and requires further investigation.

Conversely, the absence of the cavum septum pellucidum on the ultrasound exam prior to 18 weeks, or later than 37 weeks, is considered a normal finding [1,2].

Absence of the cavum septum pellucidum

Absence of the cavum septum pellucidum is a rare abnormality often associated with other brain malformations

Incidence: 0.2 - 0.3: 10,000 people.

Associated anomalies: optic nerve hypoplasia, holoprosencephaly, septo-optic dysplasia, abnormalities of the corpus callosum, and Chiari II malformation, midline defects, schizencephaly.

Ultrasound findings: communicating square frontal horns and absent cavum septum pellucidum.
It maybe difficult to differentiate from the lobar holoprosencephaly, but in the case of the absence of the cavum:

Thalami and fornices are not fused
No pronounced ventriculomegaly

Normal appearance of the corpus callosum, columns of the fornix, anterior cerebral arteries and falx cerebri

Absence of the cavum pellucidum, optic nerve hypoplasia and pituitary hypoplasia are present in septo-optic dysplasia. Fetal MRI is helpful to detect a hypoplastic optic nerve, schizencephaly or cortical dysplasia.
Pituitary hypoplasia resulting in hormone deficiency is found in 50-90% of affected patients and is usually diagnosed at a mean age of 4-5 years. Nevertheless, for differential diagnosis in utero, cordocentesis is useful to evaluate the fetal endocrine status evaluation [3,4,5,6].

Prognosis

The isolated septal agenesis has an unknown prognosis. The septal agenesis doesn't need to be always associated with other obvious anomalies which can be detected on prenatal ultrasound. It maybe associated with histological changes, cytoarchitectural changes which cannot usually be detected on ultrasound or MRI before 32 weeks of gestation or even after the delivery. This changes may have an affect on the neurodevelopmental process. Some cases of isolated septal agenesis reported coincidence with schizophrenia. The septal area is a part of the limbic system which plays a key role in the schizophrenia development [7].
The retrospectie multicentric study done on 17 affected children showed that 14 had a normal neurological development, 2 had language development delay and 3 had behavioral problems [8]. This study showed rather good prognosis.
It seems to be very important to follow-up the affected children after delivery and during their childhood to access their cognitive-behavioral outcomes.

2011-05-29 10:14

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