Imaging in atypical van der knaap disease with subependymal nodular heterotopia: A case report
Here, we discuss a rare and to our knowledge, the first case of an atypical Van der Knaap's disease in a 6-year-old boy who presented with motor difficulties, developmental delay, cognitive impairment, seizures. The objective of this report is to highlight its unusual findings on MRI including...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-02-01
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| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043324012810 |
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| Summary: | Here, we discuss a rare and to our knowledge, the first case of an atypical Van der Knaap's disease in a 6-year-old boy who presented with motor difficulties, developmental delay, cognitive impairment, seizures. The objective of this report is to highlight its unusual findings on MRI including internal capsule, brainstem, cerebellum involvement; subependymal nodular heterotopia, subependymal cysts, cortical laminar necrosis along with typical findings of megalencephalic leukoencephalopathy and subcortical cysts. The study also underscores the clinical implications of this complex pathology, with emphasis on comprehensive neuroradiological evaluation for atypical presentations to guide better diagnostic and management outcomes. |
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| ISSN: | 1930-0433 |