School of International Education, Xuzhou Medical University, Xuzhou, 221004, China.
Department of Neurology, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, 221002, China.
Neurol Sci. 2019 Mar;40(3):489-494. doi: 10.1007/s10072-018-3667-9. Epub 2018 Dec 10.
To investigate the clinical and imaging features of gray matter heterotopia (GMH) and improve the clinicians' understanding of the disease.
A retrospective study was performed on 15 patients with GMH diagnosed at The Affiliated Hospital of Xuzhou Medical University from November 2014 to November 2016. Their clinical and imaging features are also summarized.
The proportion of male and female patients was 2:1. The age of onset was 2~45 years and the average age was 19.1 years. There were 13 patients with epilepsy who also had cognitive decline (5 cases) and neurological deficit (3 cases). There were 2 patients with headache or dizziness. The imaging findings of GMH are unilateral or multiple spots in the periventricular or subependymal, subcortical, and centrum semiovale and are often accompanied by other cerebral malformations. We found that 10 patients had the subcortical type of GMH and 5 patients had the subependymal type or periventricular nodular heterotopia type. There were 8 cases of ventricular compression, 5 cases of ventriculomegaly, 5 cases of cerebral fissure malformation, 3 cases of pachygyria, 1 case of callosal agenesis, and 1 case of undeveloped septum pellucidum. All the patients were given symptomatic and supportive therapies and 3 patients were treated with antiepileptic drugs. Seizures were, however, poorly controlled.
GMH should also be suspected in patients with juvenile onset of seizures, cognitive decline, and neurological deficits. Magnetic resonance scans may show lesions in the white matter of the brain with signals similar to the normal gray matter.
探讨脑灰质异位（GMH）的临床和影像学特征，提高临床医生对此病的认识。
回顾性分析 2014 年 11 月至 2016 年 11 月在徐州医科大学附属医院经头颅 MRI 确诊的 15 例 GMH 患者的临床和影像学资料。
男、女患者比例为 2:1，发病年龄 2~45 岁，平均 19.1 岁。13 例有癫痫，其中 5 例伴有认知功能减退，3 例有神经功能缺损。2 例有头痛或头晕。GMH 的影像学表现为单侧或多发于侧脑室周围或室管膜下、皮质下及半卵圆中心，常合并其他脑畸形。发现皮质下型 10 例，室管膜下型或脑室周围结节状异位型 5 例。有 8 例出现脑室受压，5 例出现脑室扩大，5 例脑裂畸形，3 例脑回肥厚，1 例胼胝体发育不全，1 例透明隔缺如。所有患者均给予对症支持治疗，3 例给予抗癫痫药物治疗，但癫痫控制不佳。
对于青少年起病的癫痫、认知功能减退、神经功能缺损患者，应高度怀疑 GMH。磁共振扫描可能显示脑白质内有类似正常灰质信号的病变。
