Angelman Syndrome: A Genetic Cause Of Absent Speech And Ataxia In Childhood – Case Report

Abstract

Introduction: Angelman syndrome (AS; OMIM #105830) is a rare neurodevelopmental disorder characterized by severe developmental delay and severe intellectual disability, gait ataxia and/or limb incoordination, absence of language, and happy behavior that includes unmotivated and excessive laughter. It occurs due to imprinting defects with loss of gene expression at the 15q11.2-q13 locus of maternal origin; maternal deletion of 15q11.2-q13, paternal uniparental disomy of 15q11.2-q13 or a heterozygous pathogenic variant in UBE3A. The incidence of AS is 1:12,000 to 1:24,000 births. Objective: Report a child diagnosed with AS. Case Description: Male, 4 years old. Referred due to global developmental delay. Absent speech, gait ataxia and paroxysmal laughter. The only child of healthy, non-consanguineous couple, with no family history of other similar cases, malformations or genetic diseases. Discussion: The proband presented the typical AS phenotype, and the diagnosis and genetic mechanism were confirmed through molecular MLPA and Array-CGH, respectively.