Van der knaap disease, a megalencephalic leukoencephalopathy
Megalencephalic leukoencephalopathy (MLC) with subcortical cysts is a rare disease first described by van der Knaap et al, in 1995. Megalencephalic leukoencephalopathy with subcortical cysts is a relatively new entity of neurodegenerative disorder characterized by infantile onset macrocephaly, cerebral leucoencephalopathy and mild neurological symptoms and an extremely slow course of functional deterioration
Case submitted by Dr Mitesh Gupta.
Van der knaap disease, a megalencephalic leukoencephalopathy
Reviewed by Sumer Sethi
on
Wednesday, October 17, 2012
Rating:
Reviewed by Sumer Sethi
on
Wednesday, October 17, 2012
Rating:
Sumer Sethi
Unique blend of academic excellence and entrepreneurship, heading leading firms in India- Teleradiology Providers, pioneering company providing teleradiology services and DAMS (Delhi Academy of Medical Sciences) Premier test preparation institute in India for MD/MS/MCI preparation. He has also been an invited faculty member at various conferences, including Teleradiology in IRIA 2008 and 2011, Hospital Build Middle East, Congress of the Brain Tumor Radiology in Neuro-oncology Society. Dr. Sethi is Editor-in-Chief of Internet Journal of Radiology. He has a keen interest in Web 2.0 technologies and in maintaining his famous radiology blog, which has been featured in multiple international journals.
1 comment:
Megalencephalic leukoencephalopathy with subcortical cysts also k.a. Van der Knap disease is an autosomal recessive genetic disorder. It is not a novel entity. Infact many cases are reported from India. One particular community i.e Agarwal community from Gujarat has many affected individuals and harbors a founder mutation in MLC1 gene.Mutation testing is available. Recurrence risk in siblings is 25% and prenatal diagnosis can be done to prevent this.
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