Tumoural transformation in Van der Knaap syndrome

• Published in: Neurology India Vol. 67; no. 3; pp. 890 - 892
• Main Authors: Gupta, Pankaj, Kumar, Varsha, Kataria, Rashim, Srivastava, Trilochan, Sardana, V
• Format: Journal Article
• Language: English
• Published: India Wolters Kluwer India Pvt. Ltd 01.05.2019; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt. Ltd
• Subjects: Brain Neoplasms - diagnosis; Brain Neoplasms - pathology; Brain Neoplasms - surgery; Cell Transformation, Neoplastic - pathology; Convulsions & seizures; Cysts; Female; Gliosis - diagnosis; Gliosis - pathology; Gliosis - surgery; Hereditary Central Nervous System Demyelinating Diseases; Humans; Learning disabilities; Middle Aged; India
• DOI: 10.4103/0028-3886.263185
• ISSN: 0028-3886

Previous MRI was suggestive of cystic areas in bilateral anterior frontal and temporal regions with hypointensity in bilateral periventricular and subcortical white matter areas, representative of leukoencephalopathy or demyelination, suggesting the diagnosis of Van der Knaap syndrome [Figure 1]. The recent contrast CT scan showed a 55 X 30 X 50 mm solid-cystic left temporal mass with heterogenous enhancement in the medial part of the lesion with subfalcine herniation and midline shift of 7 mm to the right side [Figure 2]. {Figure 1}{Figure 2}{Figure 3} Van der Knaap syndrome is an autosomal recessive disorder with mutation in the megalencephalic leukoencephalopathy (MLC1) gene, producing a defect in myelin.