Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family

Yıl 2014, Cilt: 6 , - , 01.06.2014

Shamrendra Narayan , Dipti Agarwal Vandna Verma Nirmal Prajapati

https://izlik.org/JA93BT49BT

Öz

Abstract  We present a case series of 6 children of Megalencephalic leukoencephalopathy with subcortical cysts. It is a very rare leukodystrophy that is characterized by macrocephaly , a slowly progressive clinical course and fatal outcome. Clinical presentation and MRI scans are the mainstay of diagnosis. 6 of 7 children from the same parents were affected suggesting variation from autosomal recessive pattern.

Anahtar Kelimeler

megalencephalic leukoencephalopathy , subcortical cysts

Kaynakça

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