RESUMO
Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional decline as early as possible in an attempt to improve quality of life and survival. This study describes the clinical characteristics as well as the response to treatment with cerliponase alfa. Materials and methods: A retrospective study was conducted in five Latin-American countries, using clinical records from patients with CLN2. Clinical follow-up and treatment variables are described. A descriptive and bivariate statistical analysis was performed. Results: A total of 36 patients were observed (range of follow-up of 61-110 weeks post-treatment). At presentation, patients with the classic phenotype (n = 16) exhibited regression in language (90%), while seizures were the predominant symptom (87%) in patients with the atypical phenotype (n = 20). Median age of symptom onset and time to first specialized consultation was 3 (classical) and 7 (atypical) years, while the median time interval between onset of symptoms and treatment initiation was 4 years (classical) and 7.5 (atypical). The most frequent variant was c.827 A > T in 17/72 alleles, followed by c.622C > T in 6/72 alleles. All patients were treated with cerliponase alfa, and either remained functionally stable or had a loss of 1 point on the CLN2 scale, or up to 2 points on the Wells Cornel and Hamburg scales, when compared to pretreatment values. Discussion and conclusion: This study reports the largest number of patients with CLN2 currently on treatment with cerliponase alfa in the world. Data show a higher frequency of patients with atypical phenotypes and a high allelic proportion of intron variants in our region. There was evidence of long intervals until first specialized consultation, diagnosis, and enzyme replacement therapy. Follow-up after the initiation of cerliponase alfa showed slower progression or stabilization of the disease, associated with adequate clinical outcomes and stable functional scores. These improvements were consistent in both clinical phenotypes.
RESUMO
El objetivo del presente estudio fue determinar los hallazgos clínicos, paraclínicos, epidemiológicos, y de pruebas de tamizaje y de diagnóstico en el síndrome de Asperger, en los casos que se detectaron en la Fundación Liga Central Contra La Epilepsia y la Fundación Hospital de la Misericordia entre los años 2004 y 2007. Hasta la fecha existen pocos artículos de series clínicas sobre este síndrome en la literatura médica, se ha informado que es un trastorno sub-diagnosticado en Colombia. Este estudio describe el síndrome con detalle, mostrando sus características en nuestra población, con el fin de ofrecer una mejor información para diagnóstico, tratamiento, seguimiento y prevención.
The objective of this study was to determine the clinical, paraclinical, epidemiological, and screening tests and diagnostic findings in Asperger syndrome, in the cases that were detected in the Central Foundation League Against Epilepsy and the Foundation of the Hospital of Misericordi between the years 2004 and 2007. To date, there are few articles of clinical series on this syndrome in the medical literature, it has been reported that it is a sub -diagnosed disorder in Colombia. This study describes the syndrome with detail, showing all their characteristics in our population, in order to provide better information for diagnosis, treatment, follow-up and prevention.
Assuntos
Humanos , Síndrome de Asperger , Transtorno Autístico , Epilepsia , Transtorno do Espectro AutistaRESUMO
El síndrome de Asperger es un trastorno generalizado del desarrollo, fue descrito por Hans Asperger en 1944. Se caracteriza por una marcada alteración social, dificultades en la comunicación, déficit en la capacidad de juego y un rango de comportamiento e intereses repetitivos, sin un retardo significativo en el lenguaje, ni cognitivo. Considerando la importancia del tema actualmente, en este se hace una revisión amplia sobre el tema que abraca aspectos como: características clínicas, alteraciones al examen físico, posibles alteraciones estructurales y funcionales. También se especifican los criterios del DSM-IV, del diagnóstico diferencial y del diagnóstico diferencial. Finalmente, se puntualizan algunos aspectos relacionados con la genética y el tratamiento.
Asperger syndrome is a pervasive developmental disorder; it was described by Hans Asperger in 1944. It is characterized by a marked social disruption, difficulties in communication, deficit in the ability to play and a range of interests and repetitive behavior, without a significant language or cognitive delay. Considering the current importance of the item, this is done in a comprehensive review on the subject that covers aspects such as: clinical features, alterations to the physical examination, and possible structural and functional alterations. Also the DSM-IV criteria and the differential diagnosis are specified. Finally, some of the aspects related to the genetics and treatment are discussed.
