Tratamientos empleados para el síndrome de Dravet / Treatments used for Dravet syndrome / Tratamentos usados para a síndrome de Dravet

Se estima que el síndrome de Dravet (SD) es una encefalopatía epiléptica y de desarrollo grave, que ocurre en 1 de cada 15000 nacidos vivos. Se caracteriza por una epilepsia resistente a los medicamentos que se presenta en el primer año de vida con convulsiones prolongadas acompañadas de fiebre o cambios de temperatura, a menudo de naturaleza hemiclónica, seguidas de convulsiones no provocadas de diversos tipos. Objetivo. Describir los tratamientos empleados para el Síndrome de Dravet. Metodología. Se realizó una revisión sistemática. Para ello, se ejecutó una búsqueda en múltiples bases de datos, como Pubmed, Dialnet, Sciencedirect, Scielo y Scopus. La búsqueda se limitó a los artículos publicados desde el año 2017 hasta el 2022. Después de recopilar los artículos, se aplicaron varios criterios de filtrado para asegurarse de que sólo se incluyeran aquellos estudios que eran pertinentes para el análisis. Conclusión. Los tratamientos actuales, como los medicamentos antiepilépticos, las dietas cetogénicas y la estimulación nerviosa, han demostrado ser efectivos para reducir la frecuencia y la gravedad de las convulsiones en los pacientes. Es importante que los pacientes y sus cuidadores trabajen en conjunto con un equipo médico para lograr la mejor gestión posible de la enfermedad. Aunque no se dispone de una cura definitiva para el Síndrome de Dravet, los avances médicos continúan proporcionando esperanza y opciones de tratamiento a los pacientes y sus familias.

Dravet syndrome (DS) is estimated to be a severe developmental and epileptic encephalopathy, occurring in 1 in 15000 live births. It is characterized by drug-resistant epilepsy presenting in the first year of life with prolonged seizures accompanied by fever or temperature changes, often hemiclonic in nature, followed by unprovoked seizures of various types. Objective. To describe the treatments used for Dravet syndrome. Methodology. A systematic review was performed. For this purpose, a search was carried out in multiple databases, such as Pubmed, Dialnet, Sciencedirect, Scielo and Scopus. The search was limited to articles published from 2017 to 2022. After collecting the articles, several filtering criteria were applied to ensure that only those studies that were relevant to the analysis were included. Conclusion. Current treatments, such as antiepileptic drugs, ketogenic diets, and nerve stimulation, have been shown to be effective in reducing the frequency and severity of seizures in patients. It is important that patients and their caregivers work together with a medical team to achieve the best possible management of the disease. Although there is no definitive cure for Dravet syndrome, medical advances continue to provide hope and treatment options for patients and their families.

Estima-se que a síndrome de Dravet (SD) seja uma encefalopatia epiléptica e de desenvolvimento grave, que ocorre em 1 a cada 15.000 nascidos vivos. Caracteriza-se por epilepsia resistente a medicamentos que se apresenta no primeiro ano de vida com convulsões prolongadas acompanhadas de febre ou alterações de temperatura, muitas vezes de natureza hemiclônica, seguidas de convulsões não provocadas de vários tipos. Objetivo. Descrever os tratamentos usados para a síndrome de Dravet. Metodologia. Foi realizada uma revisão sistemática. Para isso, foi realizada uma pesquisa em vários bancos de dados, como Pubmed, Dialnet, Sciencedirect, Scielo e Scopus. A pesquisa foi limitada a artigos publicados de 2017 a 2022. Após a coleta dos artigos, vários critérios de filtragem foram aplicados para garantir que apenas os estudos relevantes para a análise fossem incluídos. Conclusão. Os tratamentos atuais, como medicamentos antiepilépticos, dietas cetogênicas e estimulação nervosa, demonstraram ser eficazes na redução da frequência e da gravidade das convulsões nos pacientes. É importante que os pacientes e seus cuidadores trabalhem em conjunto com uma equipe médica para obter o melhor controle possível da doença. Embora não haja uma cura definitiva para a Síndrome de Dravet, os avanços médicos continuam a oferecer esperança e opções de tratamento para os pacientes e suas famílias.

Turner syndrome associated with Down syndrome: about a case / Síndrome Turner asociado a síndrome Down: a propósito de un caso

The coexistence of double aneuploidy of Down and Turner syndromes is rare; most cases have been due to double mitotic errors. The objective of the study was to report a case with monosomy of the X chromosome and trisomy of chromosome 21, in mosaic variety, highlighting the phenotypic effect that the presence of different chromosomal abnormalities can produce and compare with those reported in the literature. A 10-year-old Ecuadorian female, born to a multipregnant mother with 46 years at conception, is seen in consultation with a predominant clinical phenotype of Down syndrome, associated with menarche, presence of pubic and axillary villu, where a karyotype is verified 45 X[7]/47XX+ 21 [3]/46, X, der (X)(: p11.1-> q11.1)[1]/46,XX [1]. The present case is a double Turner-Down aneuploidy, with predominantly X monosomy cell line, who shows important mental retardation and some signs of puberal development not usually in Turner syndrome. These features highlight the clinical importance of doing a karyotype in mental retardation cases and searching low mosaics of another aneuploidies in atypical cases. Its complex chromosomal formula and support with molecular cytogenetics allowed diagnostic confirmation and genetic counseling.

La coexistencia de doble aneuploidía de los síndromes de Down y Turner es rara; la mayoría de los casos se han debido a dobles errores mitóticos. Reportar un caso con trisomía del cromosoma 21 y monosomía del cromosoma en X, en variedad mosaico, que curiosamente presenta un despertar puberal precoz y comparar con los reportados en la literatura. Paciente ecuatoriana de sexo femenino, de 10 años de edad, nacida de madre multigesta con 46 años a la concepción, que es vista en consulta con fenotipo clínico predominante de Síndrome Down, asociado a menarquia y telarquia, donde se constata un cariotipo. El presente caso es el primero informado de mosaicismo de doble aneuploidía de Turner-Down asociado con un despertar puberal precoz. Su fórmula cromosómica compleja y el apoyo con la citogenética molecular permitió la confirmación diagnostica y la asesoría genética.

Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador

Abstract The newborn screening program in Ecuador has been operating since 2011 under the responsibility of the Ministry of Health. This program is centralized and diagnoses four diseases: congenital hypothyroidism, phenylketonuria, galactosemia, and congenital adrenal hyperplasia. This study aimed to assess the geographical distribution of newborn screening cases in Ecuador. Spatial analysis techniques were applied using the records of the National Newborn Screening Program with a congenital disease confirmed from January 2012 to December 2019. Morbidity rates per 100,000 were calculated by newborn screening disease detected and the province of birth, posteriorly, the map of its distribution was graphed and assessed using the QGIS 3.12 software. In total, 393 cases born confirmed between 2012 and 2019 were registered. The distribution of every disease tends to be different in all provinces in Ecuador; the spatial variation was significant and relative rates showed a higher incidence in some eastern provinces. In conclusion, we found a different distribution and rates of newborn screening disorders in Ecuador. The high incidence of congenital hypothyroidism, phenylketonuria, galactosemia, and congenital adrenal hyperplasia in some areas should be investigated, due could be related to ethnic, genetic, and cultural aspects of the population.