中华神经医学杂志
中華神經醫學雜誌
중화신경의학잡지
CHINESE JOURNAL OF NEUROMEDICINE
2013年
7期
711-713
,共3页
Joubert综合征%脑干%畸形%核磁共振%临床表现%鉴别诊断
Joubert綜閤徵%腦榦%畸形%覈磁共振%臨床錶現%鑒彆診斷
Joubert종합정%뇌간%기형%핵자공진%림상표현%감별진단
Joubert syndrome%Brainstem%Malformation%MR imaging%Clinical manifestation%Differentiating diagnosis
目的 探讨Joubert综合征的临床特点及MRI表现,提高对本病的认识及诊断正确率. 方法 回顾性分析南方医科大学珠江医院自2001年至2012年确诊的3例Joubert综合征患儿资料,结合相关文献对该病的临床及影像学特征、鉴别诊断要点进行总结. 结果 3例患儿均显示出典型的MRI表现,即由于小脑蚓部发育不育导致的复杂的脑干畸形,包括中脑水平“磨牙征”、小脑半球间“中线裂”及第四脑室变形呈“蝙蝠翼状”改变.临床上,3例患儿均出现新生儿期肌张力减退、阵发性呼吸频率改变(1例伴呼吸暂停)及运动、智力发育迟缓,仅1例眼球活动异常(斜视). 结论 Joubert综合征MRI表现具有特征性,但确诊必须结合临床表现,应注意与其他小脑蚓部发育异常病变相鉴别.
目的 探討Joubert綜閤徵的臨床特點及MRI錶現,提高對本病的認識及診斷正確率. 方法 迴顧性分析南方醫科大學珠江醫院自2001年至2012年確診的3例Joubert綜閤徵患兒資料,結閤相關文獻對該病的臨床及影像學特徵、鑒彆診斷要點進行總結. 結果 3例患兒均顯示齣典型的MRI錶現,即由于小腦蚓部髮育不育導緻的複雜的腦榦畸形,包括中腦水平“磨牙徵”、小腦半毬間“中線裂”及第四腦室變形呈“蝙蝠翼狀”改變.臨床上,3例患兒均齣現新生兒期肌張力減退、陣髮性呼吸頻率改變(1例伴呼吸暫停)及運動、智力髮育遲緩,僅1例眼毬活動異常(斜視). 結論 Joubert綜閤徵MRI錶現具有特徵性,但確診必鬚結閤臨床錶現,應註意與其他小腦蚓部髮育異常病變相鑒彆.
목적 탐토Joubert종합정적림상특점급MRI표현,제고대본병적인식급진단정학솔. 방법 회고성분석남방의과대학주강의원자2001년지2012년학진적3례Joubert종합정환인자료,결합상관문헌대해병적림상급영상학특정、감별진단요점진행총결. 결과 3례환인균현시출전형적MRI표현,즉유우소뇌인부발육불육도치적복잡적뇌간기형,포괄중뇌수평“마아정”、소뇌반구간“중선렬”급제사뇌실변형정“편복익상”개변.림상상,3례환인균출현신생인기기장력감퇴、진발성호흡빈솔개변(1례반호흡잠정)급운동、지력발육지완,부1례안구활동이상(사시). 결론 Joubert종합정MRI표현구유특정성,단학진필수결합림상표현,응주의여기타소뇌인부발육이상병변상감별.
Objective To study the clinical and MR imaging features of patients with Joubert syndrome to improve the understanding of this disorder and the diagnosis accuracy.Methods A retrospective study of clinical and MR imaging data was performed in 3 pediatric patients had definite diagnosis of Joubert syndrome; and a comprehensive review of literature was presented.Results All 3 patients showed typical manifestations of complex brainstem malformations on MR imaging which comprised the "molar tooth sign" on midbrain level,"thin median cleft" separating cerebellar hemispheres and "bat wing" appearance of the fourth ventricle due to the cerebellar vermis hypoplasia.Clinically,hypotonia,intermittent irregular breathing pattern (with apnea in 1 patient) and developmental delay/mental retardation in infancy in all 3 patients and abnormal eye movements (episodic deviation to lateral extremes of gaze) in 1 patient were noted.Conclusion Joubert syndrome is characterized on MR imaging,but clinical data is necessary for an exact diagnosis; differentiation should be made with the other disorders due to the hypoplasia of cerebellar vermis.
