Work

Imaging in atypical van der knaap disease with subependymal nodular heterotopia: A case report

Year: 2024

Type: article

Abstract: 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.

Source: Radiology Case Reports

DOI: 10.1016/j.radcr.2024.11.013

Authors: Pramod V, Sanjay S C, Dheepika R, Mohan C V

Institutions: Kempegowda Institute of Medical Sciences, Rajiv Gandhi University of Health Sciences

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $550