Objectives: Van der Knaap disease or megalencephalic leukoencephalopathy with subcortical cysts (MLC), is a slowly progressive neurodegenerative disease with macrocephaly. We present a case of MLC with a confirmed homozygous MLC1 mutation who presented with a psychotic attack at a very young age.
Case Presentation: An 11-year-old girl was admitted to the emergency room with delusions, hallucinations, and irritability. She was diagnosed with MLC at 18 months old. Her psychotic symptoms were improved with the administration of risperidone treatment added to her valproic acid treatment for EEG abnormality.
Conclusion: In this case study we reported the first episode of a psychotic attack during the clinical course of MLC. This case indicates the possibility that MLC influences the onset of the psychotic attack. Further investigation with more patients is needed to identify the relationship.
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