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van der Knaap's leukoencephalopathy: report of five new cases with emphasis on diffusion-weighted MRI findings
1Radiology Department, Izmir State Hospital, Mehmetcik Bulvari 111/6, 35350 Esentepe, Izmir, Turkey. fgelal@ixir.com
Abstract:
We present five new cases of van der Knaap's leukoencephalopathy, which is a rare abnormality characterized by infantile-onset white matter disease with swelling and mild clinical course. Based on the very rare histopathological data, this disease is considered a vacuolating myelinopathy with peripherally located intralamellar vacuoli. Although approximately 70 cases have so far been published, there are very limited data in the literature regarding diffusion-weighted imaging (DWI) findings of this recently discovered entity. In this paper, in addition to MRI, MRS and DWI findings in three patients are shown, apparent diffusion coefficient (ADC) maps are calculated, and ADC measurements made from various regions of interest are documented. MRI showed diffuse swelling and areas of T2 high signal in supratentorial white matter, sparing the cortex and central gray matter structures. MRS findings indicated some degree of neuronal loss. DWI and ADC maps showed increased diffusion rates, suggesting a different type of tissue damage than that would be expected in vacuolating myelinopathies. We believe that DWI and ADC mapping would be of help in providing a baseline for monitoring the progression of the disease.
Insights
Van der Knaap's leukoencephalopathy, a rare infantile white matter disease, presents unique diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) findings. These advanced imaging techniques reveal increased diffusion rates, aiding in disease monitoring.
Area of Science:
- Neurology
- Radiology
- Pediatric Neurology
Background:
- Van der Knaap's leukoencephalopathy is a rare infantile-onset white matter disease.
- Histopathology suggests a vacuolating myelinopathy with intralamellar vacuoles.
- Limited diffusion-weighted imaging (DWI) data exists for this condition.
Purpose of the Study:
- To present new cases of van der Knaap's leukoencephalopathy.
- To document and analyze diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) findings.
- To explore the utility of DWI and ADC mapping in monitoring disease progression.
Main Methods:
- Case presentation of five patients with van der Knaap's leukoencephalopathy.
- Magnetic Resonance Imaging (MRI) including DWI and Magnetic Resonance Spectroscopy (MRS).
- Calculation of apparent diffusion coefficient (ADC) maps and measurements from regions of interest.
Main Results:
- MRI revealed diffuse supratentorial white matter swelling and T2 hyperintensities.
- MRS indicated some degree of neuronal loss.
- DWI and ADC maps demonstrated increased diffusion rates, suggesting atypical tissue damage.
Conclusions:
- Diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) mapping provide valuable insights into van der Knaap's leukoencephalopathy.
- Findings suggest tissue damage patterns potentially different from typical vacuolating myelinopathies.
- DWI and ADC mapping can serve as a baseline for monitoring disease progression.