ADOPA

Contacto

C/ Santiago 702, Zona Universitaria, República Dominicana

Redes sociales

Publicado: 02/25/2023

DOI: https://doi.org/10.58994/adopa.v1i1.4

Síndrome de Angelman reporte de un caso

Cómo citar

1.
Cabrera Pérez J. Síndrome de Angelman reporte de un caso. ADOPA. 2023;1(1):47-58. Disponible en: http://adopa.pediatriadominicana.org/index.php/adopa/article/view/4

Resumen

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.

Abstract

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.

Referencias

Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M. Autism in Angelman syndrome: A population based study. Pediatric Neurology, 1996;14(2):131–6.

Petersen MB. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Am J Med Genet, 1995;60(3):261-2.

Buckley RH, Dinno N, Weber P. Angelman syndrome: are the estimates too low? Am JMed Genet, 1998;80(4):385-90.

Angelman H. ‘Puppet’ Children A report of three cases. Dev Med Child Neurol, 1965;7:681-2.

Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997;15(1):70–3.

Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet. 1997;15(1):74–7.

Buiting K, Williams C, Horsthemke B. Angelman syndrome - insights into a rare neurogenetic disorder. Nat Rev Neurol. 2016;12(10):584–93.

Bird LM. Angelman syndrome: review of clinical and molecular aspects. Appl Clin Genet, 2014;7:93–104.

Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet, 2003;40(2):87–95.

Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, et al. Williams CA, et al. Angelman syndrome: Consensus for Diagnostic Criteria. Am J Med Genet, 1995;56(2):237-8.

Wheeler AC, Sacco P, Cabo R. Unmet clinical needs and burden in Angelman syndrome: a review of the literature. Orphanet J Rare Dis, 2017;12(1):164. doi: 10.1186/s13023-017-0716-z.

Licencia

Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0.