Van der Knaap disease: Case report
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Case report

Van der Knaap disease: Case report

J Behcet Uz Child Hosp 2013;3(1):60-62 DOI: 10.5222/buchd.2013.060
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Abstract

Van der Knaap disease is a very rare disease that usually develops as a result of the mutation in the MLC1 gene. It is characterized by the presence of diffuse brain white matter involvement and subcortical cysts. Infantile onset macrocephaly and slowly progressive neurologic findings are important in the differential diagnosis. In this report, a 5 years old boy who was diagnosed with Van der Knaap disease were described because of its rarity

Keywords: Van der Knaap disease, macrocephaly, children