Respuesta precoz a idursulfasa en un paciente de 31 años de edad con síndrome de Hunter / Early response to idursulfase in a 31-year old male patient with Hunter syndrome

La respuesta al tratamiento de sustitución enzimática [TSE] en el síndrome de Hunter [MPS II] se produce en la mayoría de los pacientes de forma temprana tras su inicio y persiste durante los primeros 12 a 18 meses. Sin embargo, casi todos los pacientes con MPS II tienen formas graves de la enfermedad y fallecen de manera prematura. Más del 90% de los sujetos fallecen antes de los 25 años y solamente una minoría sobrevive por encima de los 30. Existe información muy limitada acerca de la respuesta temprana al TSE entre pacientes adultos con síndrome de Hunter. Notificamos el caso de un varón de 31 años con MPS II, con una invalidez articular grave, pero una discapacidad cognitiva leve, que recibió tratamiento con idursulfasa durante seis meses. El modelo de respuesta observado fue similar al esperado en pacientes más jóvenes. La mejoría observada en la movilidad articular sugiere que pacientes de mayor edad, con afectación articular, pueden beneficiarse de la terapia con Idursulfasa incluso cuando el tratamiento se inicia en estadios más tardíos de la enfermedad(AU)

The response to Enzyme Replacement Therapy (ERT) in Hunter syndrome (MPS II) occurs early in most of the patients after its initiation and continues during the first 12-18 months. However, almost all the patients with MPS II have severe forms of the disease and death occurs prematurely. More than 90% of subjects die before 25 years, and only a minority will survive after the age of 30. There is very limited information on early response to ERT among adult patients with Hunter's syndrome. We report the case of a 31 year-old male with MPS II, with a remarkably severe joint disability, but mild cognitive impairment, who was treated with idursulfase for six months. The pattern of response observed, was similar to what can be expected in younger patients. The amelioration in joint mobility observed in this case suggests that older patients with advanced articular involvement may benefit from idursulfase, even when therapy is started in later stages of the disease(AU)

[Early response to idursulfase in a 31-year old male patient with Hunter syndrome]. / Respuesta precoz a idursulfasa en un paciente de 31 años de edad con síndrome de Hunter.

The response to Enzyme Replacement Therapy (ERT) in Hunter syndrome (MPS II) occurs early in most of the patients after its initiation and continues during the first 12-18 months. However, almost all the patients with MPS II have severe forms of the disease and death occurs prematurely. More than 90% of subjects die before 25 years, and only a minority will survive after the age of 30. There is very limited information on early response to ERT among adult patients with Hunter's syndrome. We report the case of a 31 year-old male with MPS II, with a remarkably severe joint disability, but mild cognitive impairment, who was treated with idursulfase for six months. The pattern of response observed, was similar to what can be expected in younger patients. The amelioration in joint mobility observed in this case suggests that older patients with advanced articular involvement may benefit from idursulfase, even when therapy is started in later stages of the disease.

Parálisis branquial obstétrica en nuestro Servicio: Revisión de 10 años / Obstetric brachial paralysis in our Department: A 10 years review

Introducción. La parálisis branquial obstétrica es una entidad relativamente frecuente, originada en el período neonatal. Objetivo. Determinar la incidencia y pronóstico de la parálisis obstétrica del plexo branquial y analizar factores de riesgo asociados. Material y métodos. Estudio retrospectivo descriptivo, de todos aquellos niños nacidos en nuestro centro y diagnosticados de parálisis braquial en los últimos 10 años, valorando variables perinatales y evolución de los mismos. Resultados. Se diagnosticaron 23 parálisis braquiales (1/1.000 recién nacidos), 13 varones (56,5%) y 10 mujeres 843,5%). Todos los partos fueron a término con una incidencia de distocia de hombros del 69,5% y un peso medio al nacimiento de 3.937 g (3.390-5.110 g). La parálisis fue más frecuente en el lado derecho (65,2%), con afectación de raíces superiores en todos los casos. El 74% de los niños se recuperó en los primeros 6 meses de vida, precisando fisioterapia un 57,1%; solo en dos casos se llevaron a cabo otras pautas terapéuticas. A pesar del tratamiento, un 17% de los niños presentaron secuelas permanentes. Conclusiones. La parálisis branquial obstétrica sigue siendo un problema frecuente en nuestro medio; habitualmente, se afectan las raíces superiores, suele ser unilateral con predominio del lado derecho y puede originar secuelas permanentes (AU)

Introduction. The obstetrical brachial palsy is a relatively frequent entity with origin in the neonatal period. Objective. To determine the incidence and prognosis of obstetric brachial plexus injuries and analyze associated risk factors. Material and methods. Retrospective descriptive study, of all those children born in our center and diagnosed of brachial palsy, in the last 10 years, valuing perinatal variables and evolution of the same ones. Results. Obstetrical brachial palsy was diagnosed in 23 children’s 81/1000 newborn), 12 males 856.5&) and 10 females (43.5%). All the patients were born full term with an incident of distocia of shoulders of 69.5% and an average weight to the birth of 3937 g (3390-5110 g). The palsy was more frequent in the right side (65.2%), mainly of upper roots in all the cases. 74% of the children recovered in the first 6 months of life, needing physical therapy 57,1%, only in two cases other treatments were carried out. In spite of the treatment, 17% of the children presented permanent sequels. Conclusions. The obstetrical brachial palsy continues being a frequent problem in our environment, usually affecting upper roots, unilaterally, with predominance of the right side and can originate permanent sequels (AU)