Jhancy Malay, Al Homsi Ammar, Chowdhury Fatema, Hossain Samiha, Ahamed Reshme
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.
RAK College of Medical Sciences, RAK Medical and Health Sciences University, Ras al Khaimah, United Arab Emirates.
Neurol India. 2020 May-Jun;68(3):669-672. doi: 10.4103/0028-3886.289018.
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.
范德·克纳普病，也称为伴有皮质下囊肿的巨脑性白质脑病（MLC），是一种罕见的常染色体疾病，目前尚无确切的患病率报道，但文献中已报道超过150例。该病在近亲结婚较为常见的一些种族中更为普遍。其通常表现为婴儿期起病的巨头畸形、脑白质病和轻度神经症状，以及功能逐渐恶化的病程。诊断依据提示性的临床特征和MRI表现来确定，这些表现包括脑白质营养不良和皮质下囊肿。在此，我们报告1例罕见的范德·克纳普病，发生于1名24日龄的女婴，其MRI表现相似，因新生儿惊厥前来评估。
