Abstract

Van der Knaap disease is a very rare form of megalencephalic leukoencephalopathy. Infantile onset macrocephaly is one of the most common presentation forms. In the presence of typical clinical and radiological findings, the demonstration of mutations in MLC1 and MLC2 are diagnostic. Our case was admitted to hospital because of the increased size of head circumference at the age of 1.5 years. There was no history of consanguinity in the family. Megalencephalic leukoencephalopathy with subcortical cysts was seen on brain magnetic resonance imaging (MRI) and Van der Knaap disease was suspected. MLC1 gene mutation was positive. The family history of consanguinity is important in diagnosing Van der Knaap disease as it is an autosomal recessive disorder. Due to the fact that the parents were not related, this case may be valuable in terms of demonstrating the incidence of the MLC1 mutation in the Turkish population

Keywords: Leukoencephalopathy, Macrocephaly, Megalencephaly, Subcortical cysts

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How to cite

1.
Bektaş Ö, Taşkın BD, Gürcan ZK, Akman AÖ, Değerliyurt A, Güven A, et al. Megalencephalic Leukoencephalopathy with Subcortical Cysts and Macrocephaly: A Case Report. Turk J Pediatr Dis [Internet]. 2015 Jun. 1 [cited 2025 May 25];9(2):134-6. Available from: https://turkjpediatrdis.org/article/view/339