Ataxia de Friedreich de inicio precoz con mejoría clínica tras el tratamiento con altas dosis de idebenona

La ataxia de Friedreich es una enfermedad neurodegenerativa progresiva de\ud transmisión autosómica recesiva, que conforma la ataxia hereditaria más frecuente en nuestro\ud medio. Se produce por una expansión de más de 33 repeticiones del triplete GAA, secundaria a una\ud mutación del cromosoma 9q13. Se manifiesta antes de los 25 años con síntomas neurológicos,\ud locomotores, endocrinológicos y cardiológicos, siendo estos últimos los que marcan el pronóstico.\ud La esperanza de vida es de 40-50 años. Existen medicamentos que pretenden mejorar los síntomas\ud y detener la progresión de la enfermedad, aunque no disponemos por el momento de ningún\ud tratamiento curativo. Exponemos el caso de un niño de 5 años con un antecedente familiar de\ud atrofia espinocerebelosa, que debutó a los 2-3 años con síntomas neurológicos, presentando en el\ud momento del diagnóstico una miocardiopatía hipertrófica. El paciente fue tratado con idebenona\ud con evolución inicial desfavorable, mejorando posteriormente al aumentar la dosis del fármaco.Friedreich's ataxia is a neurodegenerative progressive disease of autosomal recessive\ud transmission that shapes the most frequent hereditary ataxia nowadays. It is caused by an\ud expansion of more than 33 repetitions of the triplete GAA, secondary to a mutation of the 9q13\ud chromosome. It appears by age of 25 with neurological, locomotive, endocrinological and\ud cardiological symptoms, the latter being the markers for forecasting. The life expectancy is 40-50\ud years. There are medicines that attempt to relieve the symptoms and stop the progression of the\ud disease. However, we have not so far any curative treatment. We expose the case of a 5 years old\ud child with a family precedent of spinocerebellar atrophy, that started when he was 2-3 years old\ud with neurological symptoms, who presented a hypertrophic myocardiopathy at the moment of the\ud diagnosis. He was treated with Idebenone with an initial unfavorable developing, improving when\ud the doses of the drug were increased

Recomendaciones de la Sociedad Española de Cardiología Pediátrica y Cardiopatías Congénitas en relación con el uso de medicamentos en el trastorno por déficit de atención e hiperactividad en niños y adolescentes con cardiopatías conocidas y en la población pediátrica general, posicionamiento de la Asociación Española de Pediatría.

Approved drugs for attention deficit hyperactivity disorder (ADHD) in Spain are methylphenidate, lisdexamphetamine, atomoxetine and guanfacine. Due to adverse cardiovascular effects, mainly increased blood pressure and heart rate, its use in patients with known or undiagnosed heart disease may be controversial. To obtain a consensus document from the Spanish Society of Paediatric Cardiology and Congenital Heart Diseases (SECPCC) and experts from other Agencies and Societies as a guide for the paediatric cardiologist and physicians who treat children and adolescents with ADHD. An analysis was performed on the bibliography and Clinical Practice Guidelines, technical data sheets approved by the Spanish Agency of Medicines and Health Devices, and the Spanish Ministry of Health Guidelines. A Working Group was formed, with a Coordinator, as well as members of the Clinical Cardiology Working Group and Arrhythmia Group of the SECPCC. This Group produced a preliminary document that was reviewed by a group of external experts and a group of internal experts of the SECPCC with a consensus being reached on the final document. The recommendations of the SECPCC and the group of experts are presented on cardiovascular evaluation prior to treatment in children and adolescents with no known cardiovascular disease and with known cardiovascular disease. The recommendations of the SECPCC and the group of experts are also presented on the use of medications for ADHD in children and adolescents with cardiological symptoms with no evidence of heart disease, congenital heart disease, cardiomyopathy, Marfan syndrome and other aortic diseases, hypertension, and arrhythmias