Wednesday, October 17, 2012

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.





1 comment:

Shagun Aggarwal said...

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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