上一病例：【读片】thefetus病例（183）：尾部退化综合征
This is a primigravida scanned at 28th week of pregnancy. These are some images we obtained. No other anomalies were found.
患者为初产妇，下面是在妊娠28周检查时的图像，除此之外并未发现其他异常。
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先天性脐疝
尾部退化综合征是第一次听说,图看不太清,不知是在什么部位,希望能有图标提示一下,谢谢!
第一次听说。能讲解一下吗？
楼上二位看错了吧，再仔细看看，链接的是上一个病例的题目。
xihuansushi 版主为我们提供这么好的病例讲座，我们还是努力分析吧，表示支持和感谢。
感觉这个病例定位、定性很难。
左上图，像颅骨缺损并头皮软组织肿块，考虑颅裂并脑膜脑膨出。
右上图，不像颅骨颅骨，或者是颅骨变形？没有脊柱、肋骨、腹腔脏器的特征表现，还是倾向颅骨部位吧。缺损向软组织肿块有粗大血管深入，肿块血流丰富。
左下图，像颈部，或臀部？病变供血明显，可能有粗大的血管，没有螺旋结构及双向血流，不支持脐血管。
右下图，像骨盆，病变在髂骨翼的外侧。
诊断（纯属瞎懵，算是一种锻炼）：总体考虑骨源性肿瘤，可能来源于髂骨或颅骨。考虑以下可能（还是瞎懵）：
1.恶性肿瘤，如尤文氏瘤、成骨肉瘤、神经母细胞瘤。
2.血管瘤。
3.血管畸形。
其它还可以考虑颅裂并脑膜脑膨出、赘生器官、其它软组织肿瘤。
其它实在懵不出来了。还是等待答案吧。
结论:胎儿脑膜脑膨出
超声表现:胎儿颅骨似有回声缺损,其旁边可见低回声包块.CDFI示血流信号丰富.
尾部退化综合征还是第一次听说！～
图片不是很清楚啊·有没有比较清楚图像或动态图像咯～！
三维重建好象胎儿面部图像，
感觉：头颅上的肿块可能性大
不能排除：胸壁上的肿块。
图片远场内部结构显示不清，很难辨别其位置，强回声骨组织：可能为颅骨或者肋骨。
图片不够清晰，胎儿结构显示不清。
猜：胎儿脑膜脑膨出？
图片显示定位不大明确，望版主提示或注明，三维重建是什么部位？
蒙一下：胎儿脑膜脑膨出？
期待答案
读片前需阅读病历，图片需有体标，及部位标记，否则读片困难。我在猜图，不科 学。
我只能等结果。
xihuansushi斑竹：
这几幅图怎磨没标志呢？
如是颅骨应有应有正常的颅内结构，只有第一幅似像颅骨，但也不标准，三维图就更四不象了．
不敢恭维啊
只有期待结果！
支持老杏的诊断。
可能是发生于骨的恶性肿瘤可能性较大。
觉得脑膨出就不考虑了吧。细想一下thefetus怎么会考人这么寻常的病例啊？
图像实在难分辨,看了好长感觉象是侧面部突起的包块,但性质难定.骨骼连续也还好,不象是脑膜脑彭出.就象老杏说的恶性肿瘤，如尤文氏瘤、成骨肉瘤、神经母细胞瘤。
是什么还是期待结果.
没体标，没部位，没提示，两眼一抹黑！只有等待！
四幅图好像都是头颈部，肿物呈软组织密度，血流丰富，范围好像较大。三维图像因为胎位及羊水原因不清楚。
瞎猜吧：头颈部实性占位（血管瘤？皮肤神经纤维瘤？骨炎？骨肿瘤？）
（缩略图，点击图片链接看原图）
先占个位子，稍后再仔细看。我的电脑出毛病了，中毒了？惨！！
图片显示不够清晰，定位不大明确，第一幅似像颅骨，颅骨似有回声缺损,其旁边可见低回声包块，CDFI示血流信号丰富，考虑颅裂并脑膜脑膨出。其它还可考虑头颈部肿瘤。
头颈部肿瘤可能，脑膜脑膨出不能排除。
晕 ，建议加点标记
左上和右上两副图看了后的感觉是：在颅骨向外长了肿块，该肿块血流丰富。左下和右下的两副图实在不太会看，不知道是什么切面，实在无法判断。
仅根据前面两图，我估计 病变在颅骨的恶性表现肿块。
考虑头颈部肿瘤可能
考虑枕后血管瘤,
1.颅骨连续性完整,脑膜脑膨出可以排除
2.包块回声梢强,基底及内部均有血流显示
预后:手术效果较好.,
考虑枕后血管瘤
上两幅图像颅骨缺损并头皮软组织肿块，考虑颅裂并脑膜脑膨出。
右下图三维重建好象胎儿面部图像。四幅图指的全是一个问题？
我只能等结果
考虑脐膨出，内脏外翻
枕后软组织肿物（考虑脑脊膜膨出）
胎儿脑膜脑膨出？是否寄生胎或颅外肿瘤？
我也觉得应 考虑头颈部肿瘤可能，脑膜脑膨出不能排除。
The final diagnosis was rapidly involuting congenital hemangioma
最终诊断是迅速消退性先天性血管瘤。
同义词：
迅速消退的先天性血管瘤；先天性血管瘤；先天性非进行性血管瘤。
定义:
迅速消退的先天性血管瘤是一种罕见的良性肿瘤，和婴儿性血管瘤类似，其名称来源于它的特殊的发展历程：出生时它已经完全发育，然后通常是在第一年就完全退化。这些先天性的发育完全的病变通常会被认为是各种类型的产后继续发育的血管瘤的临床变异。虽然婴儿性血管瘤是在婴儿期和幼儿期非常常见的病变，但先天性血管瘤罕见。它有两种类型：迅速退化的先天性血管瘤和非退化性先天性血管瘤。
发病率：
血管瘤是婴儿期最常见的肿瘤，婴儿性血管瘤出现在4—10%的白种婴儿，女性婴儿比男性婴儿常见3到5倍。白种人最常见，而亚非种族少见。先天性血管瘤更为罕见。
发病机理：
先天性血管瘤的发病机理不是很清楚。
超声表现：
通常是在皮下脂肪层看到一低回声病变，并有弥漫的血管分布。一些血管表现为静脉血流信号，而另一些显示为低阻的动脉血流。可见到杂乱分布的大的不规则的供养动脉、动脉瘤、直接动静脉瘘和血管内血栓。超声发现的血管瘤通常是海绵状的，它不仅有表皮血管，而且在真皮深侧和皮下组织有大的静脉窦。最常表现为一类似胎盘回声的实质性团块，但也有过囊性血管瘤的报道。血管瘤不会改变局部骨骼的解剖。
图1，2 头颅的横切面显示一颈部富含血管的肿瘤（血管瘤）。
图3，4 彩色多普勒和3D图像显示颈部肿块内见血流，向外突起。
图5，6 血管瘤平面的彩色多普勒血流结构和生后表现。
鉴别诊断：
●非退化性先天性血管瘤。迅速退化的先天性血管瘤的特征和不常见的非退化性先天性血管瘤和常见的婴儿性血管瘤类似。最明显的不同在于血管瘤退化还是不退化（是趋于退化还是持续存在），所以产前超声是不可能区分两者的。这三种肿瘤的MRI也很相似，不过一些RICH可以在MRI上出现一些不均质区和大面积的液体区，血管造影可以显示动脉瘤。组织学的特征可以区分它们，但通常它们的临床特征和病理特征都会有重叠。
●先天性纤维肉瘤：这是一种不均质的血流丰富的软组织肿块，边界模糊，生长迅速，其生长区域出现解剖学的变形。
●肌纤维瘤病：肿瘤可以位于皮肤、皮下组织、肌层、骨骼或内脏。其边界非常清晰，血流稀少。
●颅骨膜血肿：头皮下的血块，与颅内的硬脑膜窦相连。
●淋巴管瘤：几乎可以出现在任何部位的囊性病变，最常发生于颈部、腋窝、胸腔和下肢的软组织处。
●畸胎瘤：通常出现在骶尾部的实质性或混合性肿块，可有钙化。
●其他病变：血管纤维瘤、纤维肉瘤、纤维组织细胞瘤、软组织肉瘤、横纹肌瘤、皮下脂肪坏死。
预后：
迅速退化性先天性血管瘤在产后的早期几个月就迅速的完全消失，有时候会萎缩残留，病人大多数都小于1岁。
治疗：
由于先天性血管瘤的预后都很好，因此不需要特殊的治疗。如果肿瘤较大的话，可能会阻碍产道需要剖腹产。
Hemangioma, rapidly involuting
Frantisek Grochal, MD*, Montse Alegre, MD**
*
Fellow, TheFetus.net, 2201 Murphy Ave, Ste 203, Nashville, TN 37203, USA;
Permanent position: Gynecological and Obstetrical Department, Central Military Hospital in Ruzomberok, Slovak Republic;
**
Barcelona, Spain;
Synonyms
Rapidly involuting congenital hemangioma; congenital hemangioma; congenital non-progressive hemangioma.
Definition
Rapidly involuting congenital hemangioma is a rare benign tumor similar to infantile hemangioma. Its name comes from its particular natural course: it is fully developed at birth and then completely involutes, usually in the first year [5]. These congenitally fully developed lesions have generally been assumed to be clinical variants of more typical, postnatally developing hemangiomas [8]. While infantile hemangiomas are a very common lesion seen in infants and young children, congenital hemangiomas are rare. Two types of congenital hemangiomas exist: rapidly involuting congenital hemangiomas and noninvoluting congenital hemangiomas [7].
Prevalence
Hemangiomas are the most common tumors of infancy. Infantile hemangiomas occur in 4% to 10% of white infants, and they are 3 to 5 times more commonly seen in female infants, most frequently in whites and less commonly in those of African or Asian descent [7]. Congenital hemangiomas are much more rare.
Pathogenesis
Pathogenesis of congenital hemangiomas is not very well understood. Some authors believe that they could originate from either invading angioblasts that differentiate toward a placental phenotype or form embolized placental cells. Erythrocyte type glucose transporter isoform 1 (GLUT1), a glucose transporter enzyme, is uniquely expressed on endothelial cells of hemangiomas but not in surrounding normal vascular endothelium [9]. Lymphatic endothelial hyaluronan receptor-1 (LYVE-1), a specific marker for normal and tumor-associated lymphatic vessels, was strongly expressed in tumor cells of infantile hemangiomas but was absent during involution. That is why some authors believe that endothelial cells in proliferating infantile hemangioma are arrested in an early developmental stage of vascular differentiation [4]. Some overlapping clinical and pathologic features can be found among rapid involuting congenital hemangiomas, non-involuting congenital hemangiomas and infantile hemangiomas. These observations support the hypothesis that these vascular tumors may be variations of a single entity ab initio, but it is unknown whether the progenitor cell for these uncommon congenital vascular tumors is the same as for common infantile hemangioma [1].
Sonographic findings
Usually hypoechoic lesions mostly confined to the subcutaneous fat with diffuse vasculature. Some of the vessels show a venous flow signal, while others demonstrated low resistant arterial flow [10]. Large and irregular feeding arteries are in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi are present [6]. Sonographically detectable hemangiomas are usually of the cavernous type, which involve not only cutaneous vessels but also larger venous sinusoids in the deep dermis and subcutaneous tissues. The most common appearance is that of a solid mass with an echotexture similar to placenta, but cystic hemangiomas have also been reported [3]. Hemangiomas do not change bony anatomy in the region.
Images 1, 2. Transverse sections through the skull showing tumor (hemangioma) in nuchal region with rich vascularisation.
Images 3, 4. Color Doppler and 3D image showing prominent vascular mass (hemangioma) in nuchal region.
Images 5, 6. Color Doppler vascular structure at the level of hemangioma and its postnatal appearance.
Differential diagnosis
Non-involuting congenital hemangioma. The features of rapid involuting congenital hemangioma are similar to features of uncommon non-involuting congenital hemangioma and common infantile hemangioma. The obvious difference is their behavior of involuting and non-involuting hemangioma (tendency to involute or persist) and so it is impossible to distinguish between them by prenatal ultrasound. Magnetic resonance imaging of the three tumors is quite similar, but some RICH also had areas of inhomogeneity and larger flow voids on MRI and arterial aneurysms on angiography. The histologic features enable to distinguish among these entities but generally they have overlapping clinical and pathologic features.
Congenital fibrosarcoma. Heterogeneous and vascularized soft tissue mass, poorly circumscribed, with rapid growth and deformation of anatomical regions of its development.
Myofibromatosis. Tumors located in skin, subcutaneous tissue, muscles, bones or viscera. They are very well circumscribed with poor vascularization.
Sinus pericranii (epicranial sinus, subpericranial varix). Blood-field nodule of the scalp communicated with an intracranial dural sinus.
Lymphangioma. Cystic leasions in almoust any location but most commonly seen in the soft tissue of neck, axilla, thorax and lower extremities.
Teratomas. Usually in sacrococcygeal region – solid or mixed solid and cystic structure, and may have calcifications.
Other lesions. Angiofibroma, fibrosarcoma, fibrous histiocytomas, soft tissue sarcomas, rhabdomyomas, subcutaneous fat necrosis.
Associated anomalies
Coarctation of the aorta [11]; PHACES syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, Eye abnormalities, and Sternal malformation) [2].
Prognosis
Rapidly involuting congenital hemangioma promptly resolve postnatally over the early months of life, with complete resolution, sometimes with residual atrophy, occurring at less than 1 year of age in most of the patients [10].
Recurrence risk
Most hemangiomas occur sporadically, but some families with autosomal dominant inheritance have been reported [12].
Management
As the prognosis of congenital hemangiomas is generally good, they don’t require special management. Big tumors can be an obstetrical obstacle requiring cesarean section.
