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产前超声诊断脊髓纵裂畸形1例

2019-01-21 刘志兴 陈莉 袁新春 中国超声医学杂志

孕妇,20岁。孕1产0,孕22+3周,孕期无服用药物及毒物接触史,因常规胎儿畸形筛查就诊于当地医院怀疑胎儿椎管内占位,遂转诊至我院。产前超声检查:胎儿腰段及骶段椎管增宽,脊柱矢状切面发现腰骶部后方探及强回声团,后伴声影,凸入椎管且脊髓圆锥末端平第2骶椎水平,脊柱横断面似可见两束脊髓回声,胎儿小脑形态正常、后颅窝池及各脑室未见明显异常(图1)。超声提示:脊髓异常改变考虑脊髓纵裂合并脊髓栓系综合征。

孕妇,20岁。孕1产0,孕22+3周,孕期无服用药物及毒物接触史,因常规胎儿畸形筛查就诊于当地医院怀疑胎儿椎管内占位,遂转诊至我院。产前超声检查:胎儿腰段及骶段椎管增宽,脊柱矢状切面发现腰骶部后方探及强回声团,后伴声影,凸入椎管且脊髓圆锥末端平第2骶椎水平,脊柱横断面似可见两束脊髓回声,胎儿小脑形态正常、后颅窝池及各脑室未见明显异常(图1)。超声提示:脊髓异常改变考虑脊髓纵裂合并脊髓栓系综合征。
 


经患者及家属多次考虑要求引产,引产后标本外观无特殊;利用5~12MHz线阵探头自颈部连续向骶尾部扫查脊柱示:脊柱矢状面示:L5~S1后方可探及强回声团后伴声影(图2a),脊柱横切面示(图2b~d):颈段脊髓呈一椭圆形低回声中间可见强回声,T10~L5/S1水平椎管内可探及两束脊髓圆锥,脊髓自上而下呈“合一分一合”形式。脊髓圆锥末端达S2水平。标本CT示:脊柱三维容积成像再现示腰骶部可见一圆柱形骨化结构凸向椎管腔。尸检与上述检查发现一致。综合各项检查提示脊髓纵裂畸形合并脊髓栓系综合征(图3)。
 



讨论
 
脊髓纵裂(diastematomyelia,DM)是一种胚胎发育畸形所致的脊髓与马尾的罕见畸形,以脊髓或马尾在矢状面被间隔节段性分开为特征,主要发生于胸腰段,罕见于颈段及骶段。现发病机制尚不明确,多数学者支持pang等提出的“统一论”学说即妊娠第3~4周,内外胚层发生粘连,引起脊索及其上方的神经板开裂,周围的间充质向其周围聚集形成间充质道,间充质可分化为纤维、软骨及骨组织等,从而在中线上将脊髓矢状分开。
 
目前国内外报道产前超声诊断较少,国内外学者研究发现DM典型超声表现多为椎管内可见强回声团、病变区椎管扩张、脊髓受压分成两部分,仔细探查可见双脊髓声像图,本例患者具有以上典型表现。产前超声诊断需与开放性脊柱裂及椎管内肿瘤相鉴别:开放性脊柱裂背部无皮肤及软组织覆盖,病变部位横切面椎弓骨化中心外翻呈外“八”字形,且小脑形态改变及后颅窝池消失有利于两者鉴别。椎管内肿瘤极少数肿瘤表现为强回声且伴声影,双脊髓声像图改变有利于两者鉴别。
 
胎儿DM常合并其他椎体畸形,如脊柱侧弯、脊柱节段性发育不良、半椎体及开放性脊柱裂等,虽不合并染色体异常,但出生后随年龄增长,下肢异常、大小便失禁等神经损害情况逐渐加重,影响患儿预后及生活条件。早期发现并明确是否合并其他畸形,有利于评估患者预后。本例患者因脊柱后方异常骨化结构及发现脊髓圆锥位置下移才得以发现,产前超声检查脊柱时应注意脊髓圆锥末端位置,对脊柱及脊髓疾病的诊断具有重要的意义,减少胎儿椎体及脊髓畸形的漏诊及误诊。
 
原始出处:

刘志兴,陈莉,袁新春.产前超声诊断脊髓纵裂畸形1例[J].中国超声医学杂志,2018(03):276-277.

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    2019-01-29 277837675

    很少见

    0

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    2019-01-23 qilu_qi
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