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儿童前脑无裂畸形的影像表现分析

Imaging analysis of holoprosencephaly in children

摘要:

目的:分析前脑无裂畸形(HPE)的影像表现,提高对该病的诊断水平。方法搜集HPE患儿14例,回顾性分析其临床和影像特征。14例中男7例、女7例;年龄2 d~8岁,中位年龄270 d;临床表现为出生后吮吸困难、抽搐频发2例,智力及运动发育落后12例,其中4例伴唇腭裂畸形,1例伴小头畸形;行CT检查7例、MRI检查7例。结果14例均符合前脑无裂畸形的诊断。其中半脑叶型4例、脑叶型8例、半球中央变异型2例;胼胝体发育不全13例,其中2例合并灰质异位;两侧豆状核及尾状核部分融合6例、两侧丘脑部分融合3例;伴发脑裂畸形1例、唇腭裂畸形4例、小头畸形1例、小脑发育不良1例。结论 CT和MRI有助于前脑无裂畸形的诊断、分型、确定是否伴发其他神经系统发育异常,MRI应作为首选的诊断方式。

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Objective To improve the diagnostic level of the holoprosencephaly (HPE) disease in children by imaging analysis. Methods From May 2007 to August 2015, 14 cases of HPE in children were collected (7 males and 7 females, aged 2 days to 8 years, mean 14 months). Two cases were showed as sucking difficulty and convulsions frequently after birth. Mental and motor development defects were showed in 12 cases, in which 4 cases were associated with cleft lip and palate deformities and 1 case with microcephaly. Of the 14 cases, CT scan was performed in 7 cases and MRI scan in 7 cases. Results All 14 cases were consistent with the diagnostic criteria of HPE according to the imaging findings of literatures reviewed. Four cases were showed as semilobar HPE, 8 cases were lober HPE, and 2 cases were middle interhemispheric fusion variant. There were thirteen cases were associated with corpus callosum agenesis, including 2 cases were with heterotopic gray matter. Putamen and caudate partia fusion were showed in 6 cases, and thalamus partia fusion in 3 cases. One case was associated with schizencephaly, 4 cases were palate malformation, one case was microcephaly, and one case was cerebellar hypoplasia. Conclusion CT and MRI scan could contribute to diagnosis and classification of holoprosencephaly, and determine whether HPE was associated with other neurological abnormalities. MRI scan should be the first choice for HPE diagnosis.

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