Introduction: the most salient clinical manifestations of Angelman syndrome include a severe delay in psychomotor development, absence of verbal language, frequent seizures, permanent expression of happy face with an unmotivated smile and wobbly gait, and craniofacial dysmor- phism. It is a genetic disorder due to deletion of chromosome 15 (15q11q13) in its maternal expression. In about 10 to 15 % of patients, genetic testing is normal, as it was in our patient. Its prevalence is estimated at 1/15000-20000 in the general population.
Objective: To make the existence of Angelman Syndrome known in our country to the entire medical community, especially neurologists and paediatricians. As an important cause of severe psychomotor retardation and seizures.
Materials and method: a 16-year-old adolescent patient with phenotypic characteristics of genetic alterations and evident psychomotor retardation is provided. Whose clinical expres- sion is compatible with Angelman Syndrome.
Conclusions: the association of severe mental retardation with a characteristic behavioral phenotype of happiness expression, which is why it became inappropriately known as a happy puppet and the existence of seizures should make us think of Angelman syndrome.
Introduction: the most salient clinical manifestations of Angelman syndrome include a severe delay in psychomotor development, absence of verbal language, frequent seizures, permanent expression of happy face with an unmotivated smile and wobbly gait, and craniofacial dysmor- phism. It is a genetic disorder due to deletion of chromosome 15 (15q11q13) in its maternal expression. In about 10 to 15 % of patients, genetic testing is normal, as it was in our patient. Its prevalence is estimated at 1/15000-20000 in the general population.
Objective: To make the existence of Angelman Syndrome known in our country to the entire medical community, especially neurologists and paediatricians. As an important cause of severe psychomotor retardation and seizures.
Materials and method: a 16-year-old adolescent patient with phenotypic characteristics of genetic alterations and evident psychomotor retardation is provided. Whose clinical expres- sion is compatible with Angelman Syndrome.
Conclusions: the association of severe mental retardation with a characteristic behavioral phenotype of happiness expression, which is why it became inappropriately known as a happy puppet and the existence of seizures should make us think of Angelman syndrome.
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