Year: 2024
Type: article
Study design: Case Report
Abstract: Megalencephalic leukoencephalopathy with subcortical cysts also known as Van Der Knapp disease which is an inherited autosomal recessive disorder with a specific MRI feature and a variable clinical course. On MRI, Frontal and temporal subcortical cysts are the diagnostic hallmark. It usually presents with cerebellar, pyramidal signs and seizures. Megalencephaly can be detected early. It has been seen that it has been more prevalent in north Indian population, however it has been seen globally. We encountered a patient who is a 9 year old male child came with history of developmental delay, seizures with psychotic features. four patients and describe the clinical and radiological features of these patients.
Authors: Preethi Senthilkumar, Yogesh Kumar, Priyan Voltaire, J Sai Tarani, Nitishkumar Yeslawath
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4404883163