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Year : 2011  |  Volume : 6  |  Issue : 1  |  Page : 74-77

Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases

1 Department of Neurology, All India Institute of Medical Sciences, New Delhi, India
2 Department of Neurology, G..B. Pant Hospital, New Delhi, India

Correspondence Address:
Amit Batla
Department of Neurology, AIIMS, New Delhi - 110 002
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1817-1745.84416

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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.


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