Batla Amit, Pandey Sanjay, Nehru Ravi
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
J Pediatr Neurosci. 2011 Jan;6(1):74-7. doi: 10.4103/1817-1745.84416.
Megalencephalic leukoencephalopathy with subcortical cysts is an inherited autosomal recessive disorder with characteristic MRI features and a variable but mild clinical course. Frontal and temporal subcortical cysts are the diagnostic hallmark. It usually presents with pyramidal and cerebellar signs. Megalencephaly is usually detected early. Seizures may be present but are usually easily controlled. It has been reported commonly from a certain ethnicity of northern Indian origin, but its presence is global. We encountered four patients and describe the clinical and radiological features of these patients. Seizures though reported to be uncommon were seen in all our patients. Neuropsychiatric features have not been described as presentation so far but one of our patients had moderately severe depression. All the patients were diagnosed by MRI features and they responded well to symptomatic treatment.
巨脑性白质脑病伴皮质下囊肿是一种常染色体隐性遗传性疾病，具有特征性的磁共振成像（MRI）表现和多变但轻微的临床病程。额叶和颞叶皮质下囊肿是诊断的标志。它通常表现为锥体束征和小脑体征。巨脑症通常在早期被发现。癫痫可能存在，但通常易于控制。该病在印度北部特定种族中报道较多，但全球均有出现。我们遇到了4例患者，并描述了这些患者的临床和影像学特征。尽管癫痫发作据报道并不常见，但在我们所有患者中均有出现。神经精神症状迄今尚未被描述为该疾病的表现，但我们的一名患者患有中度严重抑郁症。所有患者均通过MRI特征确诊，且对对症治疗反应良好。
