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Van der Knaap's vacuolating leukoencephalopathy: two additional cases
T Thelle1, T Balslev, T Christensen
1Department of Pediatrics, Viborg Hospital, Viborg, Denmark.
Abstract:
We present two new cases with infantile-onset megalencephaly and a characteristic magnetic resonance imaging (MRI) pattern including severe white-matter abnormalities and subcortical cysts. In one of the patients MRI at the early age of 9 months showed pronounced white matter swelling. In another patient the swelling of white matter was less pronounced at 12 years of age.
Insights
This study details two infantile-onset megalencephaly cases with unique MRI findings. Severe white-matter abnormalities and subcortical cysts were observed, varying with age.
Area of Science:
- Neuroscience
- Radiology
- Genetics
Background:
- Megalencephaly, characterized by an abnormally large brain, can present in infancy with diverse neurological manifestations.
- Understanding the neuroimaging patterns associated with infantile megalencephaly is crucial for diagnosis and management.
Observation:
- Two new cases of infantile-onset megalencephaly were identified.
- Both patients exhibited a distinct magnetic resonance imaging (MRI) pattern.
Findings:
- The characteristic MRI pattern included severe white-matter abnormalities and subcortical cysts.
- One patient displayed pronounced white matter swelling on MRI at 9 months of age.
- Another patient showed less pronounced white matter swelling at 12 years of age.
Implications:
- These findings contribute to the spectrum of infantile megalencephaly presentations.
- The characteristic MRI pattern may aid in early diagnosis and understanding disease progression.
- Further research is warranted to elucidate the underlying genetic and molecular mechanisms.