Van Der Knaap Disease.

MariaR Bokhari; Faisal Inayat; Javeria Sardar; Syed Rizwan A Bokhari

Author(s)

MariaR Bokhari Department of Radiology, Jinnah Hospital, Lahore, Pakistan

Faisal Inayat Allama Iqbal Medical College, Lahore, Pakistan

Javeria Sardar Indus Hospital, Manawan, Lahore, Pakistan

Syed Rizwan A Bokhari Department of Nephrology, Jinnah Hospital, Lahore, Pakistan

Abstract

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.

Publication Details

Page(s) 888-890

DOI DOI not available

Published Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 28, Issue: 11, Year: 2018

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