Van der Knaap Leukoencephalopathy Case Report

Çağla Soysüren; Ufuk Şener; Süleyman Men; Uğur Kulu; Yaşar Zorlu

Çağla Soysüren¹, Ufuk Şener¹, Süleyman Men², Uğur Kulu¹, Yaşar Zorlu¹

¹Neurology Clinic, Tepecik Education And Research Hospital, İzmir, Turkey
²Department Of Radiology, Dokuz Eylul University, Faculty Of Medicine, İzmir, Turkey

Keywords: leukoencephalopathy, macrocephaly, ataxia, subcortical cysts, adult patient

Abstract

Scientific BACKGROUND: Van der Knaap leukoencephalopathy, also known as megalencephalic leukoencephalopathy with subcortical cysts, is a rare form of leukoencephalopathy, which was first described in 1995. It is characterized by early-onset macrocephaly, with mild motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings; and usually late onset of mild mental deterioration. MRI characteristics included diffuse abnormality in signal intensity and swelling of cerebral hemispheral white matter with cyst-like spaces in the frontoparetal and anterior-temporal subcortical areas.

CASE: The patient who had no compliants until 20 years old was admitted to our clinic with refractory seizures that continued for six years. Van Der Knaap leucoencephalopathy was considered after the examination.

CONCLUSION: This paper, accompanied by cases in literature, is about a patient with Van Der Knaap leucoencephalopathy who had typical clinical and MRI findings.