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 CASE REPORT
Year : 2020  |  Volume : 68  |  Issue : 3  |  Page : 669--672

Van der Knaap Disease (Vanishing White Matter) – Unusual Presentation in a Neonate: A Case Report


1 Associate Professor of Pediatrics, RAK Medical and Health Sciences University, Ras al Khaimah, United Arab Emirates; Former Assistant Professor of Pediatrics, Department of Pediatrics, Rangaraya Medical College, Kakinada, Andhra Pradesh, India
2 RAK College of Medical Sciences, RAK Medical and Health Sciences University, Ras al Khaimah, United Arab Emirates

Correspondence Address:
Mr. Ammar Al Homsi
RAK College of Medical Sciences, RAK Medical and Health Sciences University, Ras al Khaimah
United Arab Emirates
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.289018

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Van der Knaap disease, also known as megalencephalic leukoencephalopathy with subcortical cysts (MLC), is a rare autosomal disorder, with no exact prevalence but more than 150 cases were reported in the literature. It was more prevalent in some ethnicities where consanguinity is common.[1] It is usually characterized by infantile-onset macrocephaly, cerebral leukoencephalopathy and mild neurological symptoms, and a slow course of functional deterioration.[2] Diagnosis is determined by suggestive clinical features and MRI findings that include leukodystrophy and subcortical cysts. Herein, we present a rare occurrence of Van der Knaap disease, in a 24-day-old female neonate with similar MRI findings, who presented with neonatal seizures for evaluation.






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Online since 20th March '04
Published by Wolters Kluwer - Medknow