Akademik Veri Yönetim Sistemi
Turkiye Klinikleri Pediatri, cilt.19, sa.1, ss.66-69, 2010 (Scopus)
Van der Knaap leukoencephalopathy is a rare disorder, which is characterized by early-onset macrocephaly, mild motor developmental delay, ataxia, spasticity and late-onset mild mental deterioration. Cranial magnetic resonance imaging (MRI) reveals increased volume in supratentorial white matter, diffuse abnormality in signal intensity and cysts in temporal areas. However, magnetic resonance spectroscopic (MRS) findings are normal. We aimed to report a case with Van der Knaap leukoencephalopathy because of its rarity and to emphasize the differences from other neurodegenerative disorders with megalencephaly. A five years old girl who had followed since four months old for macrocephaly was admitted to our clinic with seizure. On admission, mild mental developmental delay, dysarthric speech, spasticity on lower extremities, positive Romberg sign and ataxia were determined. Her MRI findings were in consistent with Van der Knaap leukoencephalopathy. To differentiate from other neurometabolic disorders with megalencephaly, her blood and urine analyses and MRS results were normal. In conclusion, the diagnosis of this disorder is established by macrocephaly, slowly progressive neuromotor deterioration and typical MRI findings. Metabolic tests in blood and urine and MRS should be normal for differential diagnosis from other neurodegenerative disorders with megalencephaly. Copyright © 2010 by Türkiye Klinikleri.