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Van Der Knaap Disease: Young Male with Megalencephalic Leukoencephalopathy with Subcortical Cysts: A Case Report

H Kaushal1, H Khutan1, H Sood1

  • 1Department of Medicine, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India.

Neurology India
|December 20, 2022
PubMed

Insights

Megalencephalic leukoencephalopathy with subcortical cysts is an inherited condition causing an enlarged head and neurological issues. Characteristic MRI findings and clinical signs aid in diagnosis and differentiation from similar disorders.

Area of Science:

  • Neurology
  • Medical Genetics
  • Radiology

Background:

  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare autosomal recessive neurological disorder.
  • It is characterized by macrocephaly (enlarged head) and progressive neurological deficits.
Keywords:
CSFFLAIRMLCMRI

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