Middle interhemispheric variant of holoprosencephaly - A distinct cliniconeuroradiologic subtype
Middle interhemispheric variant of holoprosencephaly - A distinct cliniconeuroradiologic subtype
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DOI：
10.1212/01.wnl.0000037483.31989.b9
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发表时间：
2002-12-24
期刊：
影响因子：
9.9
通讯作者：
Hahn, JS
中科院分区：
文献类型：
--
作者：
Lewis, AJ;Simon, EM;Hahn, JS
背景：中间半球间变异（MIH）是前脑无裂畸形（HPE）的一种亚型，其中后额叶和顶叶区域缺乏中线分离，而大脑的更多极区完全裂开。虽然最近详细介绍了该亚型的神经放射学特征，但其临床特征在很大程度上尚不清楚。目的：介绍 MIH 的临床表现，并将其与 HPE 的经典亚型（长叶型、半叶型和大叶型）进行比较。方法：作者在一项多中心研究中评估了 15 名 MIH 患者。收集并关联神经影像和临床数据。他们将这些数据与 68 名患有经典 HPE 的患者的数据进行了比较。结果：MIH 中内分泌病变的发生率 (0%) 低于经典亚型 (72%) (p < 0.0001)。这与缺乏下丘脑异常相关。癫痫发作患者的百分比 (40%) 与经典 HPE 没有显着差异。痉挛是最常见的运动异常，见于 86% 的 MIH 患者，与其他亚型相似。 MIH 中舞蹈手足徐动症的发生频率 (0%) 低于半叶 HPE 中的舞蹈手足徐动症频率 (41%) (P < 0.0039)。这与尾状核和豆状核异常的缺乏相关。 MIH 组的发育功能（包括活动能力、上肢功能和语言）与最不严重的经典类型（脑叶 HPE）相似。结论：MIH 是 HPE 的一种可识别变异，具有不同的临床预后。与功能测量上的脑叶亚型类似，MIH 与经典 HPE 的不同之处在于不存在内分泌功能障碍和舞蹈手足徐动症。
Background: The middle interhemispheric variant (MIH) is a subtype of holoprosencephaly (HPE) in which the posterior frontal and parietal areas lack midline separation, whereas more polar areas of the cerebrum are fully cleaved. While the neuroradiologic features of this subtype have been recently detailed, the clinical features are largely unknown. Objective: To present the clinical manifestations of MIH and to compare them with classic subtypes (alobar, semilobar, and lobar) of HPE. Methods: The authors evaluated 15 patients with MIH in a multicenter study. Neuroimaging and clinical data were collected and correlated. They compared the data with those of 68 patients who had classic HPE. Results: The frequency of endocrinopathy in MIH (0%) was lower compared with the classic subtypes (72%) (p < 0.0001). This correlated with the lack of hypothalamic abnormalities. The percentage of patients with seizures (40%) did not significantly differ from classic HPE. Spasticity was the most common motor abnormality, seen in 86% of MIH patients, similar to other subtypes. The frequency of choreoathetosis in MIH (0%) was lower than that for semilobar HPE (41%) (P < 0.0039). This correlated with the lack of caudate and lentiform nuclei abnormalities. Developmental functions, including mobility, upper-extremity function, and language, of the MIH group were similar to the least severe classic type, lobar HPE. Conclusion: MIH is a recognizable variant of HPE with differing clinical prognosis. Similar to the lobar subtype by functional measures, MIH differs from classic HPE by the absence of endocrine dysfunction and choreoathetosis.