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2015•The Neuroradiology JournalOpen access

Magnetic resonance imaging findings of two sisters with Van der Knaap leukoencephalopathy

Koray Koç, Pınar Koç, Kami̇l Karaali̇, Nihal Olgaç Dündar, Utku Şenol, Arzu Canan

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Abstract

Megalencephalic leukoencephalopathy with subcortical cysts, or Van der Knaap leukoencephalopathy, is a rare disease which is characterised by macrocephaly and neurological disorders with autosomal recessive inheritance. Magnetic resonance imaging is very helpful for determining distinctive findings and distinguishing other diseases. We present the radiological findings of two sisters (aged 6 and 10 years) diagnosed with Van der Knaap leukoencephalopathy.

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What this paper is about

Megalencephalic leukoencephalopathy with subcortical cysts, or Van der Knaap leukoencephalopathy, is a rare disease which is characterised by macrocephaly and neurological disorders with autosomal recessive inheritance. Magnetic resonance imaging is very helpful for determining distinctive findings and distinguishing other diseases. We present the radiological findings of two sisters (aged 6 and 10 years) diagnosed with Van der Knaap leukoencephalopathy.

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Available abstract

Megalencephalic leukoencephalopathy with subcortical cysts, or Van der Knaap leukoencephalopathy, is a rare disease which is characterised by macrocephaly and neurological disorders with autosomal recessive inheritance. Magnetic resonance imaging is very helpful for determining distinctive findings and distinguishing other diseases. We present the radiological findings of two sisters (aged 6 and 10 years) diagnosed with Van der Knaap leukoencephalopathy.

Key concepts: Leukoencephalopathy, Macrocephaly, Magnetic resonance imaging, Autosomal recessive inheritance, Medicine, Pathology, Pediatrics, Radiology

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