Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos / Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients

Introducción: El complejo esclerosis tuberosa (CET) presenta gran variabilidad fenotípica. El diagnóstico cada vez más precoz, incluyendo la identificación prenatal, conlleva la necesidad de establecer una sospecha e identificación temprana, por parte del pediatra y del neuropediatra, de factores que pueden influir en su pronóstico y tratamiento. Objetivo: Determinar los criterios clínicos de un diagnóstico precoz, las pruebas complementarias iniciales, las actuaciones y los tratamientos que prevengan diferentes comorbilidades, mejorando el pronóstico de estos pacientes. Pacientes y métodos: Estudio descriptivo, retrospectivo de = 18 años con diagnóstico definitivo de CET en un hospital terciario desde 1998 hasta 2019. Se recogieron variables epidemiológicas, de afectación multisistémica, pruebas complementarias y genética. Resultados: Se analizó a 94 pacientes. Los principales motivos diagnósticos fueron la epilepsia y los rabdomiomas. Se determinó la frecuencia de aparición de los criterios clínicos, y los hallazgos neuropatológicos fueron los principales, seguidos de los estigmas cutáneos, los rabdomiomas y las lesiones renales. Se comprobaron relaciones estadísticas entre aspectos clínicos, radiológicos, genéticos, la influencia de las actividades preventivas sobre la aparición de epilepsia y la relevancia del uso de everolimús. Conclusiones: Los rabdomiomas y los estigmas cutáneos en pacientes y progenitores constituyen signos diagnósticos principales en lactantes. Los túberes y los nódulos subependimarios tienen asociación estadística con el desarrollo de epilepsia. Los espasmos epilépticos en edades precoces, refractarios a tratamiento en los primeros meses, incrementan el riesgo de déficit cognitivo y trastorno del espectro autista...(AU)

Introduction: Tuberous sclerosis complex (TSC) displays great phenotypic variability. Increasingly early diagnosis, including prenatal identification, entails the need for the paediatrician and neuropaediatrician to establish early suspicion and identification of factors that may influence prognosis and treatment. Aim: To determine the clinical criteria for early diagnosis, initial complementary tests, actions and treatments to prevent different comorbidities, so as to improve the prognosis of these patients. Patients and methods: Descriptive, retrospective study of ≤ 18-year-olds with a definitive diagnosis of TSC in a tertiary hospital from 1998 to 2019. We collected variables referring to epidemiological data, multisystem involvement, complementary tests and genetics. Results: Ninety-four patients were analysed. The main diagnostic reasons were epilepsy and rhabdomyomas. The frequency of occurrence of clinical criteria was determined, and neuropathological findings were the main findings, followed by cutaneous stigmata, rhabdomyomas and renal lesions. Statistical relationships were found between clinical, radiological and genetic aspects, the influence of preventive activities on the occurrence of epilepsy and the relevance of everolimus use were tested. Conclusions: Rhabdomyomas and skin stigmata in patients and parents are major diagnostic signs in infants. Tubers and subependymal nodules are statistically associated with the development of epilepsy. Early epileptic spasms, refractory to treatment in the first months, increase the risk of cognitive deficits and autism spectrum disorder. Epileptic abnormalities need to be closely monitored in the first year of life. Everolimus is an alternative treatment for several comorbidities, but its early use (< 3 years) requires further study.(AU)

[Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients]. / Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos.

INTRODUCTION: Tuberous sclerosis complex (TSC) displays great phenotypic variability. Increasingly early diagnosis, including prenatal identification, entails the need for the paediatrician and neuropaediatrician to establish early suspicion and identification of factors that may influence prognosis and treatment. AIM: To determine the clinical criteria for early diagnosis, initial complementary tests, actions and treatments to prevent different comorbidities, so as to improve the prognosis of these patients. PATIENTS AND METHODS: Descriptive, retrospective study of = 18-year-olds with a definitive diagnosis of TSC in a tertiary hospital from 1998 to 2019. We collected variables referring to epidemiological data, multisystem involvement, complementary tests and genetics. RESULTS: Ninety-four patients were analysed. The main diagnostic reasons were epilepsy and rhabdomyomas. The frequency of occurrence of clinical criteria was determined, and neuropathological findings were the main findings, followed by cutaneous stigmata, rhabdomyomas and renal lesions. Statistical relationships were found between clinical, radiological and genetic aspects, the influence of preventive activities on the occurrence of epilepsy and the relevance of everolimus use were tested. CONCLUSIONS: Rhabdomyomas and skin stigmata in patients and parents are major diagnostic signs in infants. Tubers and subependymal nodules are statistically associated with the development of epilepsy. Early epileptic spasms, refractory to treatment in the first months, increase the risk of cognitive deficits and autism spectrum disorder. Epileptic abnormalities need to be closely monitored in the first year of life. Everolimus is an alternative treatment for several comorbidities, but its early use (< 3 years) requires further study.

TITLE: Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos.Introducción. El complejo esclerosis tuberosa (CET) presenta gran variabilidad fenotípica. El diagnóstico cada vez más precoz, incluyendo la identificación prenatal, conlleva la necesidad de establecer una sospecha e identificación temprana, por parte del pediatra y del neuropediatra, de factores que pueden influir en su pronóstico y tratamiento. Objetivo. Determinar los criterios clínicos de un diagnóstico precoz, las pruebas complementarias iniciales, las actuaciones y los tratamientos que prevengan diferentes comorbilidades, mejorando el pronóstico de estos pacientes. Pacientes y métodos. Estudio descriptivo, retrospectivo de = 18 años con diagnóstico definitivo de CET en un hospital terciario desde 1998 hasta 2019. Se recogieron variables epidemiológicas, de afectación multisistémica, pruebas complementarias y genética. Resultados. Se analizó a 94 pacientes. Los principales motivos diagnósticos fueron la epilepsia y los rabdomiomas. Se determinó la frecuencia de aparición de los criterios clínicos, y los hallazgos neuropatológicos fueron los principales, seguidos de los estigmas cutáneos, los rabdomiomas y las lesiones renales. Se comprobaron relaciones estadísticas entre aspectos clínicos, radiológicos, genéticos, la influencia de las actividades preventivas sobre la aparición de epilepsia y la relevancia del uso de everolimús. Conclusiones. Los rabdomiomas y los estigmas cutáneos en pacientes y progenitores constituyen signos diagnósticos principales en lactantes. Los túberes y los nódulos subependimarios tienen asociación estadística con el desarrollo de epilepsia. Los espasmos epilépticos en edades precoces, refractarios a tratamiento en los primeros meses, incrementan el riesgo de déficit cognitivo y trastorno del espectro autista. Es necesario monitorizar estrechamente las anomalías epilépticas en el primer año de vida. El everolimús supone una alternativa de tratamiento en varias comorbilidades, pero su uso precoz (menor de 3 años) precisa más estudios.

Sección de Cardiología Pediátrica del H. Infantil Universitario Niño Jesús / Section of Pediatric Cardiology, H. Infantil Universitario Niño Jesús

Se pasa revista a la actividad asistencial, en la que es centro de referencia, y la de investigación. Se enumeran los principales trabajos publicados (AU)

A review is made of the care activity in that which is teh reference center as well asa of the research activity. The main works published are listed (AU)

Arritmias auriculares y ventriculares en lactante con tos ferina / Atrial and ventricular arrhythmias in a child with whooping cough

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Enfermedad de Kawasaki en 76 pacientes. Factores de riesgo de aparición de aneurismas coronarios / Kawasaki disease in 76 patients. Risk factors for coronary artery aneurysms

Introducción: La enfermedad de Kawasaki es una vasculitis sistémica aguda de la infancia, de etiología desconocida, considerada la principal causa de cardiopatía adquirida en la infancia en los países desarrollados. Por ello, es importante conocer las manifestaciones clínicas y las complicaciones de pacientes con enfermedad de Kawasaki en nuestro medio y buscar factores relacionados con la aparición de alteraciones cardiológicas. Material y métodos: Estudio descriptivo retrospectivo de 76 niños diagnosticados de enfermedad de Kawasaki desde enero de 1997 hasta mayo de 2008. Resultados: El 64,5% eran varones, con una edad media de 3 años y 4 meses. Las manifestaciones clínicas principales que presentaron fueron fiebre (media 8,13 días), exantema, hiperemia conjuntival bilateral, afectación bucal, afectación de extremidades, adenopatía única y artralgias. Entre los hallazgos analíticos destacaron leucocitosis, trombocitosis, proteína C reactiva (PCR) y velocidad de sedimentación glomerular elevadas, hipoalbuminemia, hiperbilirrubinemia, aumento de transaminasas y piuria estéril. Presentaron alteraciones coronarias12 pacientes (15,7%), 2 insuficiencia mitral leve y 1 derrame pericárdico leve. Hubo una hepatitis colestásica. Todas las complicaciones se resolvieron sin secuelas. Se identificaron como factores de riesgo para la aparición de aneurismas coronarios el sexo varón (OR = 1,24), exantema urticariforme (OR = 10,53) y PCR > 10 mg/dl (OR = 4,20). Conclusiones: Nuestros pacientes presentaron las manifestaciones clínicas y analíticas típicas de la enfermedad de Kawasaki. El 15,7% tuvo alteraciones coronarias leves. Son factores de riesgo de aparición de aneurismas coronarios el sexo masculino, exantema urticariforme y PCR elevada (AU)

Introduction: Kawasaki disease is an acute systemic vasculitis of childhood, of unknown origin, and is considered the leading cause of acquired heart disease in children. Therefore, it is important to know clinical manifestations and complications in children with Kawasaki disease in our environment and to look for risk factors for the development of cardiac complications. Material and methods: Retrospective review of 76 children with Kawasaki disease evaluated from January 1997 to May 2008. Results: Of the patients studied, 64.5% were males. The mean age was 3 years and 4 months. The main clinical findings were fever (mean of 8.13 days), rash, bilateral non-exudative conjunctivitis, changes in lips and oral cavity, changes in the extremities, cervical lymphadenopathy and arthralgias. The most important laboratory findings were leucocytosis, thrombocytosis, elevated C-reactive protein and erythrocyte sedimentation rate, hypoalbuminaemia, hyperbilirubinaemia, elevated serum transaminases and sterile pyuria. Twelve of the patients (15.7%) developed coronary artery aneurysms, two patients had a mild mitral insufficiency and one patient with a mild pericardial effusion. There was one case of cholestatic hepatitis. All the complications were resolved without sequelae. Male sex (OR = 1.24), an urticarial exanthem (OR = 10.53) and a C-reactive protein > 10 mg/dl(OR = 4.20) were identified as risk factors for coronary aneurysms. Conclusions: Our patients had the typical clinical and laboratory findings of Kawasaki disease. Mild coronary artery complications were observed in 15.7% of the patients. Male sex, an urticarial exanthem and an elevated C-reactive protein are risk factors for coronary aneurysms (AU)

[Kawasaki disease in 76 patients. Risk factors for coronary artery aneurysms]. / Enfermedad de Kawasaki en 76 pacientes. Factores de riesgo de aparición de aneurismas coronarios.

INTRODUCTION: Kawasaki disease is an acute systemic vasculitis of childhood, of unknown origin, and is considered the leading cause of acquired heart disease in children. Therefore, it is important to know clinical manifestations and complications in children with Kawasaki disease in our environment and to look for risk factors for the development of cardiac complications. MATERIAL AND METHODS: Retrospective review of 76 children with Kawasaki disease evaluated from January 1997 to May 2008. RESULTS: Of the patients studied, 64.5% were males. The mean age was 3 years and 4 months. The main clinical findings were fever (mean of 8.13 days), rash, bilateral non-exudative conjunctivitis, changes in lips and oral cavity, changes in the extremities, cervical lymphadenopathy and arthralgias. The most important laboratory findings were leucocytosis, thrombocytosis, elevated C-reactive protein and erythrocyte sedimentation rate, hypoalbuminaemia, hyperbilirubinaemia, elevated serum transaminases and sterile pyuria. Twelve of the patients (15.7%) developed coronary artery aneurysms, two patients had a mild mitral insufficiency and one patient with a mild pericardial effusion. There was one case of cholestatic hepatitis. All the complications were resolved without sequelae. Male sex (OR = 1.24), an urticarial exanthem (OR = 10.53) and a C-reactive protein > 10mg/dl (OR = 4.20) were identified as risk factors for coronary aneurysms. CONCLUSIONS: Our patients had the typical clinical and laboratory findings of Kawasaki disease. Mild coronary artery complications were observed in 15.7% of the patients. Male sex, an urticarial exanthem and an elevated C-reactive protein are risk factors for coronary aneurysms.

Síndrome de Bland-White-Garland / Bland-White-Garland syndrome

La miocardiopatía dilatada es una entidad poco común en pediatría y se clasifica como idiopática en aproximadamente 2 de cada 3 casos. Las anomalías coronarias son una causa excepcional de esta enfermedad, si bien deben formar parte del diagnóstico diferencial, especialmente ante signos electrocardiográficos sugerentes de isquemia o infarto de miocardio, pues un tratamiento quirúrgico precoz revierte la dilatación ventricular y normaliza la función miocárdica. Presentamos el caso de una lactante con síndrome de Bland-White-Garland, que es la anomalía coronaria congénita más frecuente (AU)

Dilated cardiomyopathy is a rare disease in paediatrics, and approximately two out of each three cases remain labelled as idiopathic. The coronary abnormalities are a very uncommon cause of the before mentioned, even though it has to be considered as part of the differential diagnosis and specially when myocardial ischemic or infarction electrocardiographic signs coexist, since with an early surgical procedure it may lead to normalization of ventricular dimensions and myocardial function. We report the case of an infant diagnosed with the Bland-White-Garland syndrome, the most frequent coronary congenital anomaly (AU)

[Repeated cerebral infarction in a patient with Duchenne's muscular dystrophy]. / Infartos cerebrales de repeticion en un paciente con distrofia muscular de Duchenne.

INTRODUCTION: We describe a case of Duchenne muscular dystrophy (DMD) with multiple strokes related to dilated cardiomyopathy. CASE REPORT: A 13 year old boy, with advanced stage DMD was admitted to the hospital because of acute motor and sensory impairment in his right bodyside. Imaging study revealed lesions in basal ganglia and prerolandic cortex in the left hemisphere that were compatible with infarcts in the territory of the medial cerebral artery. Cardiologic evaluation revealed dilation of the left ventriculi and systolic dysfunction with ejection fraction of 35 40%. The symptoms evolved to a residual right hemiparesia. Five months later, the patient developed a transient episode of aphasia and the study performed in this case revealed lesions compatible with infarcts in basal ganglia and insular cortex of the right cerebral hemisphere. CONCLUSION: Cerebral infarction related to cardiomyopathy can worsen the clinical condition of patients with DMD. Early treatment of dilated cardiomyopathy with systolic dysfunction, including use of antithrombotic agents to prevent cerebrovascular complications, could help to improve the course of the disease.

Infartos cerebrales de repetición en un paciente con distrofia muscular de Duchenne / Repeated cerebral infarction in a patient with Duchenne's muscular dystrophy

Introducción. Presentamos el caso de un paciente con distrofia muscular de Duchenne (DMD) que sufrió varios episodios de infarto cerebral en el contexto de una miocardiopatía dilatada. Caso clínico. Se trata de un varón de 13 años de edad con DMD en estado avanzado que ingresó con un cuadro clínico agudo de disminución de fuerza y parestesias en las extremidades derechas. En el estudio de neuroimagen se visualizaban en el hemisferio izquierdo lesiones en los ganglios de la base y en la región cortical prerrolándica, compatibles con infartos en el territorio de la arteria cerebral media. El estudio cardiológico revelaba un ventrículo izquierdo dilatado con depresión de la función sistólica y fracción de eyección entre el 35 y el 40 por ciento. Su estado evolucionó hacia una hemiparesia derecha residual. A los cinco meses, el paciente presentó un nuevo episodio transitorio de afasia. En esta ocasión, el estudio de imagen mostró unas lesiones compatibles con infartos en los ganglios de la base y cortical insular del hemisferio cerebral derecho. Conclusiones. Los infartos cerebrales relacionados con la miocardiopatía pueden agravar el estado de los pacientes con DMD. En los casos con miocardiopatía dilatada y función sistólica deprimida, el tratamiento con agentes antitrombóticos para prevenir las complicaciones cerebrovasculares, aunque no existen indicaciones formales, puede constituir una medida para mejorar el pronóstico de estos pacientes (AU)

Introduction. We describe a case of Duchenne muscular dystrophy (DMD) with multiple strokes related to dilated cardiomyopathy. Case report. A 13-year-old boy, with advanced stage DMD was admitted to the hospital because of acute motor and sensory impairment in his right bodyside. Imaging study revealed lesions in basal ganglia and prerolandic cortex in the left hemisphere that were compatible with infarcts in the territory of the medial cerebral artery. Cardiologic evaluation revealed dilation of the left ventriculi and systolic dysfunction with ejection fraction of 35-40%. The symptoms evolved to a residual right hemiparesia. Five months later, the patient developed a transient episode of aphasia and the study performed in this case revealed lesions compatible with infarcts in basal ganglia and insular cortex of the right cerebral hemisphere. Conclusion. Cerebral infarction related to cardiomyopathy can worsen the clinical condition of patients with DMD. Early treatment of dilated cardiomyopathy with systolic dysfunction, including use of antithrombotic agents to prevent cerebrovascular complications, could help to improve the course of the disease (AU)

Contribution of Doppler atrioventricular flow waves to ventricular filling in the human fetus.

The normal fetal flow velocity profile across the atrioventricular valves is characterized by an early peak (E), which is related to preload and to active ventricular muscle relaxation, and a higher late peak (A), which is caused by the atrial contraction and also influenced by ventricular compliance. The purpose of this study was to determine how these two elements of ventricular filling change during gestation in both ventricles. A total of 485 normal fetuses from 17 weeks to term were examined by Doppler echocardiography. We measured E and A peak velocities and E/A ratio for both mitral and tricuspid valves. Simple regression analysis was applied to assess possible correlation between Doppler variables and gestational age. Moreover, E and A peak velocities were compared using paired Student's t-test. With the advance of gestation a significant linear increase in the E wave and E/A ratio was found for both mitral and tricuspid valves. The A wave shows little change throughout pregnancy. We found significantly higher Doppler velocities for the tricuspid valve than for the mitral valve. The relationship between the E/A ratios for the two valves and gestational age diverge slightly, with higher values for the mitral E/A ratio. This study shows that the A wave velocity remains constant throughout gestation, suggesting little or no change in ventricular compliance. The E wave is mainly responsible for the change in E/A ratio for both atrioventricular valves during gestation. These findings suggest progressive enhancement of relaxation and elastic recoil, an increase in preload, or both, throughout gestation, rather than a change in myocardial compliance as an explanation for the observed increase in the E/A ratio.

[Sudden death and ventricular fibrillation of possible ischemic origin in a boy with hypertrophic myocardiopathy]. / Muerte súbita y fibrilación ventricular de posible origen isquémico en un niño con miocardiopatía hipertrófica.

It has been presented a case of an eleven-year-old patient admitted with a pattern of ventricular fibrillation and diagnosed as hypertrophic cardiomyopathy. Admission analysis and myocardia anatomy evolution suggested ischemic etiology. We checked the risk factors of sudden death, its relation with ischemic disease and the etiology of ischemia in the hypertrophic myocardiopathy.

[Complications of varicella in children]. / Complicaciones de la varicela en niños.

OBJECTIVE: The purpose of this study was to describe varicella complications that result in the hospitalization of children in our hospital, as well as the associated cost. PATIENTS AND METHODS: A retrospective study involving 84 children hospitalized for complications due to varicella between January 1993 and December 1997 was carried out. Oncology patients were excluded. Data about age, sex, previous health conditions, complications developed, days of admission and treatments, amongst others, was collected and descriptive statistics performed. We also estimated the costs of hospitalization. RESULTS: We identified 84 children hospitalized for complications of varicella, which represents 2.67% of the total cases of varicella attended in the Emergency Room (3,135). Of these children, 72.6% were healthy before the onset of varicella. The mean age was 3.3 +/- 2.6 years. Skin or soft tissue infections were the most common complication, with all of the cases occurring in children under 5 years of age. Central nervous system complications were found in 19.27%, with involvement of the cerebellum accounting for the majority of the cases of encephalitis. Bilateral facial palsy was observed in one patient. Respiratory complications (14.45%) included pneumonia, bronchitis and croup. Other types of complications, such as gastrointestinal (9.63%), musculo-skeletal (4.76%) and hematological were less frequent. The mean hospital stay was 7.7 +/- 4.8 days. The cost associated with the admission of these children was 43,681,528 pesetas. CONCLUSIONS: Varicella complications represent an important morbidity for a disease that has long been considered benign and inevitable in children. The implementation of a varicella vaccine program for healthy children would be beneficial for the prevention of complications and the reduction in their associated cost to the health care system.

[Heart growth in the normal human fetus. A two-dimensional echocardiographic study]. / Crecimiento cardíaco en el feto humano normal. Estudio mediante ecocardiografía bidimensional.

INTRODUCTION: Fetal cardiac growth was studied by two-dimensional echocardiography. The size of various cardiac structures were compared with gestational age. Normal values for each measurement were determined, with special attention being paid to the differences between the right and left chambers. PATIENTS AND METHODS: Ninety human fetuses with a gestational ages between 17 and 39 weeks were studied. Any structural abnormality was excluded at prenatal and postnatal examination. Aortic, pulmonary artery, tricuspid and mitral valve annulus diameters were measured with classical echocardiographic views. These variables were compared between them and plotted against gestational age. The correlations were determined by Student's T-test and regression analysis using 95% confidence limits. RESULTS: A good correlation (r > 0,7) between all the measurements and gestational age was obtained. In absolute values, tricuspid and pulmonary artery valve diameters were significantly greater (p < 0,01) than mitral and aortic valve diameters, respectively. Nevertheless, the diastolic diameter of the left ventricle (LV) was slightly greater than the diastolic diameter of the right ventricle (RV). Separating the data of the second trimester from of those of the third, the initial dominance of LV (RV/LV ratio = 0,93) tends to disappear and a slight dominance of RV (RV/LV ratio = 1,03) was observed at term. CONCLUSION: This study establishes normal values based on two-dimensional echocardiographic cardiac measurements throughout gestational stages. The data obtained will be very useful for the prenatal diagnosis and perinatal management of certain cardiopathies like the hypoplastic left heart syndrome. The relative dominance of RV in utero was also demonstrated. The different morphology of both ventricular outflow tracts and their volume changes throughout gestation, secondary to placental resistance variation, could justify the changes in the RV/LV ratio during the intrauterine period.

[Oral vaccination with live attenuated rotavirus]. / Vacunaciíon oral con rotavirus vivo atenuado.

A randomized, double-blind trial was performed to assess serological response and clinical protection for acute gastroenteritis due to rotavirus in 103 children aged 6 to 18 months, after a single dose of RIT 4237 live attenuated bovine rotavirus vaccine or placebo. Seroconversion, determined by enzyme-linked immunoabsorbent assay (ELISA), was significantly greater in initially seronegative vaccines compared with control group (p less than 0.0001); clinical protection rate was low in this study group and it is therefore concluded that seroconversion by itself is not sufficient to measure vaccine efficacy.