Neuroanatomy of holoprosencephaly as predictor of function: Beyond the face predicting the brain
Neuroanatomy of holoprosencephaly as predictor of function: Beyond the face predicting the brain
复制标题
前脑无裂畸形的神经解剖学作为功能预测因子：超越面部预测大脑
作者：
L. Plawner;M. Delgado;V. Miller;E. Levey;S. Kinsman;A. Barkovich;E. M. Simon;N. Clegg;V. Sweet;E. Stashinko;J. Hahn
尽管全前脑畸形(HPE)的神经影像和分子遗传学研究取得了进展，但其临床谱系仍未得到充分的描述。目的为了更好地描述HPE的临床特征，找出可能有助于预测神经发育功能的特殊神经解剖异常。方法采用多中心前瞻性研究方法，对68例HPE患儿进行评估。神经影像检查评估了HPE的分级(叶、半叶和叶)，深灰核不分离的程度，以及背侧囊肿或皮质畸形的存在。结果临床问题和神经功能障碍的严重程度与大脑半球不分离的程度(HPE分级)有关。近四分之三的患者有内分泌疾病，所有人都至少有尿崩症。内分泌异常的严重程度与下丘脑不分离程度相关(p=0.029)。大约一半患有HPE的儿童出现癫痫发作。皮质畸形的出现与难以控制的癫痫发作有关。肌张力障碍的出现和程度与尾状核和豆状核不分离的程度以及HPE的分级有关(p<；0.05)。低眼压与HPE分级相关(p<；0.05)。活动能力、上肢功能和语言与尾状核、豆状核和丘脑核不分离的程度以及HPE的级别相关(p<；0.01)。结论HPE患者具有广泛的临床问题和神经功能障碍。其中许多问题的性质和严重性可以通过在HPE中发现的特定神经解剖异常来预测。
BackgroundDespite advances in neuroimaging and molecular genetics of holoprosencephaly (HPE), the clinical spectrum of HPE has remained inadequately described. Objective To better characterize the clinical features of HPE and identify specific neuroanatomic abnormalities that may be useful predictors of neurodevelopmental function. Methods The authors evaluated 68 children with HPE in a multicenter, prospective study. Neuroimaging studies were assessed for the grade of HPE (lobar, semilobar, and alobar), the degree of nonseparation of the deep gray nuclei, and presence of dorsal cyst or cortical malformation. Results In general, the severity of clinical problems and neurologic dysfunctions correlated with the degree of hemispheric nonseparation (grade of HPE). Nearly three-quarters of the patients had endocrinopathies, with all having at least diabetes insipidus. The severity of endocrine abnormalities correlated with the degree of hypothalamic nonseparation (p = 0.029). Seizures occurred in approximately half of the children with HPE. The presence of cortical malformations was associated with difficult-to-control seizures. The presence and degree of dystonia correlated with the degree of nonseparation of the caudate and lentiform nuclei and the grade of HPE (p < 0.05). Hypotonia correlated with the grade of HPE (p < 0.05). Mobility, upper extremity function, and language correlated with the degree of nonseparation of the caudate, lentiform and thalamic nuclei, and grade of HPE (p < 0.01). ConclusionsPatients with HPE manifest a wide spectrum of clinical problems and neurologic dysfunction. The nature and severity of many of these problems can be predicted by specific neuroanatomic abnormalities found in HPE.
影响因子：
3.5
作者：
Nanni, L;Ming, JE;Muenke, M
通讯作者：
Muenke, M
前脑无裂畸形深部灰色核的评估。
DOI：
--
发表时间：
2000
期刊：
AJNR. American journal of neuroradiology
影响因子：
--
作者：
Simon,EM;Hevner,R;Pinter,JD;Clegg,NJ;Miller,VS;Kinsman,SL;Hahn,JS;Barkovich,AJ
通讯作者：
Barkovich,AJ