Angelman Syndrome: A Rare Case Report
Abstract
Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, speech delay, dysmorphic features, cognitive impairment, seizures as well as a unique behaviour with an inappropriate happy demeanor. This article discuss the case of an eight year old male patient with the chief complain of dental pain but presented with the signs of AS. He appeared hyperactive and easily excitable with an unusual laughing facial expression. His speech was impaired and showed unusual fascination towards water. Metabolic screening tests and brain Magnetic Resonance Imaging (MRI) revealed no abnormality. Genetic analysis is pathognomonic for Angelman Syndrome.
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