Open AccessVan der Knaap Disease
Author(s) -
Maria Bokhari,
Faisal Inayat,
Javeria Sardar,
Syed Rizwan A. Bokhari
Publication year - 2018
Publication title -
jcpsp
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.229
H-Index - 33
eISSN - 1681-7168
pISSN - 1022-386X
DOI - 10.29271/jcpsp.2018.11.888
Subject(s) - macrocephaly , leukodystrophy , consanguinity , genetic counseling , leukoencephalopathy , disease , spasticity , ataxia , pediatrics , medicine , pathology , genetics , biology , psychiatry , physical medicine and rehabilitation
Van der Knaap disease or megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, inherited, autosomal recessive disorder. It is characterised by macrocephaly and slowly progressive ataxia, spasticity, and cognitive decline. The usual age of onset is described from birth to infancy. MLC predominantly occurs in some ethnicities where consanguinity is common. This disease is caused by mutations in the gene, which encodes a novel protein, MLC1. The characteristic MRI findings include leukodystrophy and subcortical cysts that yield diagnostic clue in most of the cases. The diagnosis can be established prenatally and genetic counseling is usually offered for future pregnancies. Herein, we chronicle a case of Van der Knaap disease from Pakistan with the classical MRI features.