title: Angelman syndrome: The blurred lines of interpretation in cognitive defects.
abstract: Angelman syndrome is a neuro-developmental disorder with a genetic basis in maternal genomic imprinting that presents with cognitive and behavioral impairment. The distinction between the presentations of disorders causing developmental delay may be vague in early life, resulting in the potential delay in diagnosis and intervention. We report a case of Angelman syndrome with initial diagnostic confusion with multiple associated pathologies. A holistic evaluation and management of such patients is necessary.
authors: Department of Pediatrics, Grant Government Medical College and Sir J.J. Group of Hospitals, Mumbai, Maharashtra, India.
authors: Sushant
authors: S
authors: Mane
authors: Department of Pediatrics, Grant Government Medical College and Sir J.J. Group of Hospitals, Mumbai, Maharashtra, India.
authors: Rudrarpan
authors: R
authors: Chatterjee
keywords: Angelman syndrome; Lesch Nyhan syndrome; developmental delay; mental retardation; self-mutilation