V Pramod, S C Sanjay, R Dheepika, C V Mohan
Senior Resident, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences Hospital and Research Centre, Rajiv Gandhi University of Health Sciences, Bangalore, 560004, Karnataka, India.
Professor and Head, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences Hospital and Research Centre, Rajiv Gandhi University of Health Sciences, Bangalore, 560004, Karnataka, India.
Radiol Case Rep. 2024 Dec 6;20(2):1222-1228. doi: 10.1016/j.radcr.2024.11.013. eCollection 2025 Feb.
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.
在此，我们讨论一例罕见的、据我们所知的首例非典型范德·克纳普病，患者为一名6岁男孩，表现为运动困难、发育迟缓、认知障碍和癫痫发作。本报告的目的是强调其在MRI上的异常表现，包括内囊、脑干、小脑受累；室管膜下结节性异位、室管膜下囊肿、皮质层状坏死，以及巨脑性白质脑病和皮质下囊肿的典型表现。该研究还强调了这种复杂病理的临床意义，重点是对非典型表现进行全面的神经放射学评估，以指导更好的诊断和管理结果。
