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.

Complicaciones agudas inusuales de la infección por el virus de Epstein-Barr / Unusual acute complications of Epstein-Barr virus infection

La infección por el virus de Epstein-Barr es muy prevalente en la infancia y, aunque en la mayoría de los casos el diagnóstico es sencillo y su evolución favorable, hay casos como el que presentamos que pueden tener un amplio espectro clínico y complicaciones agudas que dificultan el diagnóstico y pueden ensombrecer el pronóstico. Se han descrito muchas complicaciones agudas que afectan a todos los sistemas y aparatos. Presentamos un caso que presenta complicaciones respiratorias, neurológicas y hepáticas (AU)

The infection caused by the Epstein-Barr virus is very common in childhood. In most cases the diagnosis is easy and its evolution of the illness is favourable, but there are some patients in whom the infectious mononucleosis can have a large clinical spectrum with acute complications that make the diagnosis difficult. We report a patient who had respiratory, neurological and hepatic complications (AU)

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)

Lupus neonatal: manifestaciones cutáneas asociadas con trombopenia neonatal / No disponible

El lupus neonatal es un síndrome raro que afecta a recién nacidos y lactantes, que se define por la presencia e autoanticuerpos maternos y características clínicas, como lesiones cutáneas típicas, bloqueo cardíaco completo, miocardiopatía, alteraciones hematológicas y hepatobiliares. Presentamos un lactante de 5 semanas derivado desde Atención Primaria por lesiones cutáneas anulares en tronco, cuero cabelludo y cara. Como antecedentes destaca en la mare afecta de síndrome Overlap (esclerosis sistémica, lupus y miositis). Se inicia estudio confirmándose el diagnóstico de lupus neonatal mediante punch biopsia y ANA moteado positivo con anti SSA-Ro y anti RNP positivos (AU)

Neonatal Lupus Erythematosus is a rare disroder that affects newborns and infants and it is caused by mother´s autoantibodies and several clinical features as typical skin rash, congenital complete heart block, miocardiapathies, haematoligical and hepatobiliary diseases. We attended a 5 weeks male infant, who was derived from the primary care center because of an annular skin rash on trunk, scalp and face. There was maternal history of Overlap syndrome (systemic sclerosis, lupus and myosistis). Diagnosis of neonatal Lupus was made by the skin biopsy and an ANAs with autoantibodies against Ro and U1-ribonucleoprotein (RNP) (AU)

Alteraciones del trazado de la frecuencia cardíaca fetal durante el parto en gestantes con oligoamnios causado por rotura prematura de membranas / Foetal heart rate changes dirung labour in pregnant women with oligohydramnios due to premature rupture of the membranes

El objetivo del estudio fue poner de manifiesto cuáles son las alteraciones del registro cardiotocográfico intraparto más características y frecuentes, así como los resultados neonatales, en una población seleccionada por el hecho de presentar oligoamnios debido a rotura prematura de membranas. El estudio llevado a cabo por el Hospital Universitario Virgen de las Nieves de Granada incluye casos consecutivos de gestantes que ingresaron con el diagnóstico de RPM en las 24 h previas para inducción del parto en el área de dilatación. La población elegida estaba formada por gestantes con ILA normal en la semana previa a la rotura de las membranas ovulares. En total fueron incluidas 130 gestantes que se asignaron en función del ILA inicial a 2 grupos, siendo el grupo 2 considerado el control con respecto a los casos de oligoamnios. El grupo I estaba formado por gestantes con ILA inicial 5 (n = 82). No se han encontrado diferencias estadísticamente significativas entre ambos grupos respecto de las alteraciones de la frecuencia cardíaca fetal intraparto. Como conclusión, se puede afirmar que, basándonos en estos resultados, no se puede sustentar la hipótesis de que el oligoamnios al inicio del parto causado por RPM aumenta la frecuencia de deceleraciones variables cuando se compara con gestantes que inician el parto con bolsa rota e ILA > 5. Posiblemente, la justificación se encuentre en el hecho de la pérdida progresiva de LA a lo largo del parto que tiende a igualar el ILA en ambos grupos (AU)

The aim of the study was to outline the most common and characteristic intrapartum cardiotocographic changes and neonatal outcome in a selected population with oligohydramnios due to premature rupture of membranes. The study was carried out at the Virgen de las Nieves University Hospital of Granada (Spain), with consecutive cases of pregnant women admitted to the delivery ward for induction of labour due to premature rupture of the membranes during the previous 24 hours. All pregnant women had a normal amniotic fluid index (AFI) the week previous to rupture of the membranes. There were 130 pregnant women inc1uded in the study, and they were divided into 2 groups based on initial AFI value. Group I was pregnant women with an initial AFI value of up to 5 (n = 48), and group II, the control group, of more than 5 (n = 82). No statistically significant differences were found between the 2 groups in intrapartum foetal heart rate pattems. In conclusion, these results do not support the hypothesis that oligohydramnios before the onset of labour due to premature rupture of the membranes increases the incidence of variable decelerations compared to pregnant women with premature rupture of the membranes at the onset of labour and AFI value of greater than 5. This may possibly be because amniotic fluid leakage during labour tends to equalize AFI in both groups (AU)

Treatment with growth hormone. What do children know and how do they accept it?

Treatment with growth hormone in children is a very effective promotor of growth. The psychosocial environment of children may influence the results of this treatment. It has been shown that there is a clear relationship between the knowledge and understanding a child has of the treatment and the degree of compliance and acceptance. We have studied 90 children treated with growth hormone who filled in a questionnaire in order to know the knowledge and acceptance of their treatment. The scores for acceptance were significantly higher than for knowledge (p < 0.00001), without correlations between the two variables. The higher marks were achieved by children who had attended an educational camp. A serious lack of knowledge about the aspects directly related with the injection system was noted. We advise to design a suitable educational program for these patients.