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

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. It is usually characterized by infantile-onset macrocephaly, cerebral leukoencephalopathy and mild neurological symptoms, and a slow course of functional deterioration. 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.