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【读片】产科疑难超声病例（286）：Klippel-Trenaunay-Weber综合症 [病例帖]

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上一病例：【读片】产科疑难超声病例（285）：Noonan综合症
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A 24-year-old G1 P0 with unremarkable personal or family history was referred to our center for the ultrasound scan at 22 weeks of gestation. Patient had a consanguineous marriage (the parents were first-degree relatives).
患者24岁，G1P0，无明显家族病史，孕22周来我处超声检查。患者夫妇为近亲婚育，属于一级亲属。

TORCH examination was negative; patient suffered from anemia caused by iron deficiency.
TORCH测试（弓形体病、其他病毒、风疹、巨细胞病毒、单纯疱疹病毒）阴性；患者患有铁缺乏症导致的贫血。

Patient delivered prematurely at 33 weeks of gestation. The final diagnosis was consistent with our ultrasound findings.
患者孕33周早产，其最终诊断与超声诊断一致。

Images 1-6: 23 weeks.

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2011-02-05 22:54 浏览 : 5348 回复 : 44

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xihuansushi 编辑于 2011-02-20 10:02

• 三脑室占位，MR平扫+增强，有病理结果（一周后公布病理）

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Images 7-12: 27 weeks.

2011-02-05 22:55

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• 儿科夜班急诊

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A 24-year-old G1 P0 with unremarkable personal or family history was referred to our center for the ultrasound scan at 22 weeks of gestation. Patient had a consanguineous marriage: the parents were first-degree relatives. A TORCH examination was negative, but the patient suffered from anemia caused by iron deficiency.
患者24岁，G1P0，无明显家族病史，孕22周来我处超声检查。患者夫妇为近亲婚育，属于一级亲属。TORCH测试（弓形体病、其他病毒、风疹、巨细胞病毒、单纯疱疹病毒）阴性；患者患有铁缺乏症导致的贫血。

We have performed 2 subsequent ultrasound examinations at 23 and 27 weeks of gestation. We observed the following findings:
孕23周和27周，我们进行了两次超声检查，发现如下表现：

High placenta, increased amount of the amniotic fluid 高位胎盘，羊水量增多
Multiple echo and anechogenic formations near the caudal part of the spine and buttocks 在接近脊柱和臀部的尾侧存在多发的无回声和有回声区
Multiple cutaneous formations covering the whole body surface, both echo and anechogenic 胎儿全身躯体表面形成多层表皮覆盖，包括无回声和有回声
Both lower extremities with clubfoot and hypertrophy of the subcutaneous tissue双下肢存在畸形足以及皮下组织增厚
Heart, skull, face and kidneys of normal appearance 心脏、颅骨、面部和肾脏形状正常

The patient delivered prematurely at 33 weeks of gestation, very likely result of the uterine distention caused by increased amount of the amniotic fluid. The newborn was a girl who had a giant hemangiomas involving the trunk and both lower extremities. She was immediately transferred to neonatal intensive care unit.
患者于孕33周分娩，很可能是由于羊水量增多导致宫内膨胀导致的。新生儿为女孩，发现患有累及躯干和双下肢的血管瘤，被立即转入新生儿特护病房。

There were multiple hemangiomas of various depth, involving skin, subcutaneus tissue and muscles. The final diagnosis based on clinical findings was Klippel-Trenaunay-Weber Syndrome.
患儿发现有各种深度的多发血管瘤，累及皮肤、皮下组织和肌层。结合临床表现，最终诊断为Klippel-Trenaunay-Weber综合症。

The neonate died 14 days after delivery due to cardiopulmonary arrest, severe anemia, thrombocytopenia, and respiratory distress.
出生14天后新生儿由于心肺功能停止、严重贫血、血小板减少以及呼吸窘迫死亡。

Images 1,2: Sagittal and coronal view of the trunk. Note redundant subcutaneous tissue.
胎儿躯体矢状面和冠状面，可看到皮下组织增厚。
Images 3,4: Image 3 shows a sagittal view of the abdomen and lower extremities, note multiple echogenic and anechogenic cutaneous formations. Image 4 shows a transverse view of the abdomen.
图3为胎儿腹部和下肢矢状面，可看到皮肤内的多发的无回声和有回声区；图4为胎儿腹部横切面。
Images 5,6: Transverse view of the abdomen at the level of kidneys with multiple cutaneous echo and anechogenic structures. Image 6 shows a femur with hypertrophic tissue of the lower extremity.
胎儿肾脏水平的腹部横切面显示皮肤内的多发的无回声和有回声的结构；图6显示胎儿下肢肿胀以及股骨。

Images 7,8: Lower extremities. Image 8 shows hypertrophic tissue of the thigh and buttocks.
下肢图像。图8显示大腿和臀部组织增厚。
Images 9,10: Image 9 shows lower extremity. Image 10 shows hand with syndactyly of four fingers and abduction of the thumb.
图9显示为下肢，图10显示手掌存在拇指外展和四指并指
Images 11,12: 3D-images nicely showing the "bumpy" skin surface of the lower extremities and buttocks.
三维图像显示下肢和臀部皮肤表面呕吐不平。

Images 13,14: Image 13 shows a neonate after delivery. Head is of a normal appearance, trunk and both lower extremitites are hypertrophic and deformed by large cutaneous hemangiomas. Image 14 shows a right arm, note the abduction of the thumb and syndactyly.
图13为分娩后的新生儿照片。头部外形正常，躯体和双下肢膨胀，巨大皮肤血管瘤导致其变形。图14显示右上肢，可看到拇指过度外展和并指。

Images 15,16: Images show details of both legs, note multiple hemangiomas and clubfoot.
图像近距离显示双下肢，注意多发的血管瘤和畸形足。

Images 17-20: X-ray of the neonate after delivery. Note tissue swelling on lower limbs and abdomen.
新生儿的X线检查显示下肢和腹部组织肿胀。

Klippel-Trenaunay-Weber Syndrome

Common findings 常见表现

Multiple cutaneous hemangiomas - echo, anechoic areas, affect mainly lower extremities, buttocks, abdomen 多发皮肤血管瘤：无回声及有回声区，主要累及下肢、臀部和腹部。
Usually unilateral predominance 一般单侧受累明显
Limb hypertrophy 肢体肥厚
Long bones asymmetry - affected bone is longer 长骨不对等，受累侧增长

Occasional findings 少见表现

Arteriovenous fistulas, lymphangiectasis 动静脉瘘淋巴管扩张
Syndactyly, polydactyly, macrodactyly 并指多指巨指
Asymmetric facial hypertrophy 不对称的面部肥大
Calcifications of brain, macrocephaly 脑组织钙化巨脑畸形
Cataracts 白内障
Visceral involvement: visceromegaly, ascites, urinary, GI tract, pleura and mesentery hemangiomas 内脏受累：内脏血管瘤腹水累及泌尿系、胃肠道、腹膜和肠系膜的血管瘤
Cardiomegaly, hydrops, cardiac failure 心脏扩大水肿心力衰竭

Differential diagnosis鉴别诊断

Proteus syndrome Proteus综合症
Sturge-Weber syndrome (angiomas of the meninges and hemangiomas of the face) Sturge-Weber综合症（脑面部血管瘤症）
Maffucci syndrome (enchondromas, bone deformities, hemangiomas)Maffucci综合症（多发性骨软骨瘤并内脏海绵状血管瘤）

2011-02-18 15:15

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xihuansushi 编辑于 2011-02-18 15:52

• 考研初试成绩即将公布，你有什么想说的？

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【读片】产科疑难超声病例（286）：Klippel-Trenaunay-Weber综合症 [病例帖]

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