Diffusion-weighted MRI of van der knaap leukoencephalopathy. A case report

Area of Science:

• Neurology
• Pediatric Radiology
• Neuroimaging

Background:

• Leukoencephalopathies are a group of white matter disorders affecting the brain.
• Van Der Knaap Leukoencephalopathy, specifically the MLC subtype, is a rare genetic disorder.
• Early diagnosis and understanding of imaging findings are crucial for management.

Purpose of the Study:

• To present a case of Van Der Knaap Leukoencephalopathy, MLC subtype, in an infant.
• To describe and discuss the characteristic cranial MRI and diffusion MRI findings.
• To highlight the diagnostic utility of advanced neuroimaging techniques.

Main Methods:

• A case study of an eight-month-old girl with motor function deterioration.
• Cranial Magnetic Resonance Imaging (MRI) including T2-weighted and diffusion sequences.
• Analysis of radiological findings in correlation with clinical presentation.

Main Results:

• Cranial MRI showed widespread bilateral white matter hyperintensities on T2-weighted images.
• Bilateral subcortical cysts in frontal and parietal lobes, and temporal lobe cysts were observed.
• Diffusion MRI revealed increased diffusion with high ADC values in affected white matter areas.

Conclusions:

• The presented case aligns with the diagnostic criteria for Van Der Knaap Leukoencephalopathy, MLC subtype.
• Cranial MRI and diffusion MRI are essential tools for diagnosing this rare leukoencephalopathy.
• Radiological findings play a pivotal role in confirming the clinical diagnosis.