[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance]. / Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio.

INTRODUCTION: McArdle's disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen. It usually manifests itself in childhood with early and excessive tiredness, myalgias, cramps and contractures or rhabdomyolysis, although it is not usually diagnosed until adulthood. Creatine kinase increases sharply during exercise. Four pediatric patients are presented, the pathophysiology is summarized, and a diagnostic algorithm is proposed. PATIENTS AND METHODS: Ages between 6 and 14 years, the anamnesis, physical examination, biochemistry, elec-tro-myogram, ischemia test and genetic study are described. Muscle biopsy in a single patient. The algorithm was developed from the ischemia test. RESULTS: In the three men, myalgias appeared after finishing each sports session. Phenomenon 'second wind' in one case. Ischemia test without lactate elevation and marked ammonia elevation in all. Only one muscle biopsy with glycogen deposits and absence of myophosphorylase. PYGM gene with homozygous mutations in all. Dietary treatment attenuated their symptoms during aerobic exercises. CONCLUSIONS: The ischemia test was very useful to demonstrate a dysfunction in anaerobic glycolysis. It is worth noting that oral glucose supplementation is very useful in McArdle disease, but is contraindicated in all six defects of anaerobic glycolysis. The algorithm also allows targeting the defect of 20 metabolic or structural myopathies, which are summarized.

TITLE: Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio.Introducción. La enfermedad de McArdle está causada por una mutación en el gen PYGM y déficit de miofosforilasa muscular, resultando alterada la liberación de glucosa-1-P a partir del glucógeno. Suele manifestarse en la infancia con cansancio precoz y excesivo, mialgias, calambres y contracturas o rabdomiólisis, aunque no suele diagnosticarse hasta la etapa adulta. La creatincinasa se incrementa durante el ejercicio. Se presentan cuatro pacientes pediátricos, se resume la fisiopatología y se propone un algoritmo diagnóstico. Pacientes y métodos. Pacientes con edades entre 6 y 14 años. Se describe la anamnesis, la exploración física, la bioquímica, el electromiograma, el test de isquemia y el estudio genético, con biopsia muscular a un solo paciente. Se elabora un algoritmo a partir del test de isquemia. Resultados. En los tres varones, las mialgias aparecieron tras finalizar cada sesión deportiva, con un fenómeno second wind en un caso. Se apreció un test de isquemia sin elevación del lactato y marcada elevación del amonio en todos, una biopsia muscular con depósitos de glucógeno y ausencia de miofosforilasa, y gen PYGM con mutaciones homocigotas en todos. El tratamiento dietético les atenuó la sintomatología durante los ejercicios aeróbicos. Conclusiones. El test de isquemia resultó muy útil para demostrar una disfunción en la glucólisis anaeróbica. Se destaca que el suplemento oral de glucosa es muy útil para la enfermedad de McArdle, pero está contraindicado en los seis defectos de la glucólisis anaeróbica. El algoritmo también permite orientar el defecto de 20 miopatías metabólicas o estructurales, que se resumen.

Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio / McArdle’s disease in four pediatric patients. Diagnostic algorithm for exercise intolerance

Introducción: La enfermedad de McArdle está causada por una mutación en el gen PYGM y déficit de miofosforilasa muscular, resultando alterada la liberación de glucosa-1-P a partir del glucógeno. Suele manifestarse en la infancia con cansancio precoz y excesivo, mialgias, calambres y contracturas o rabdomiólisis, aunque no suele diagnosticarse hasta la etapa adulta. La creatincinasa se incrementa durante el ejercicio. Se presentan cuatro pacientes pediátricos, se resume la fisiopatología y se propone un algoritmo diagnóstico. Pacientes y métodos: Pacientes con edades entre 6 y 14 años. Se describe la anamnesis, la exploración física, la bioquímica, el electromiograma, el test de isquemia y el estudio genético, con biopsia muscular a un solo paciente. Se elabora un algoritmo a partir del test de isquemia. Resultados: En los tres varones, las mialgias aparecieron tras finalizar cada sesión deportiva, con un fenómeno second wind en un caso. Se apreció un test de isquemia sin elevación del lactato y marcada elevación del amonio en todos, una biopsia muscular con depósitos de glucógeno y ausencia de miofosforilasa, y gen PYGM con mutaciones homocigotas en todos. El tratamiento dietético les atenuó la sintomatología durante los ejercicios aeróbicos. Conclusiones: El test de isquemia resultó muy útil para demostrar una disfunción en la glucólisis anaeróbica. Se destaca que el suplemento oral de glucosa es muy útil para la enfermedad de McArdle, pero está contraindicado en los seis defectos de la glucólisis anaeróbica. El algoritmo también permite orientar el defecto de 20 miopatías metabólicas o estructurales, que se resumen.(AU)

INTRODUCTION: McArdle’s disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen. It usually manifests itself in childhood with early and excessive tiredness, myalgias, cramps and contractures or rhabdomyolysis, although it is not usually diagnosed until adulthood. Creatine kinase increases sharply during exercise. Four pediatric patients are presented, the pathophysiology is summarized, and a diagnostic algorithm is proposed. PATIENTS AND METHODS: Ages between 6 and 14 years, the anamnesis, physical examination, biochemistry, elec­tro­myogram, ischemia test and genetic study are described. Muscle biopsy in a single patient. The algorithm was developed from the ischemia test. RESULTS: In the three men, myalgias appeared after finishing each sports session. Phenomenon ‘second wind’ in one case. Ischemia test without lactate elevation and marked ammonia elevation in all. Only one muscle biopsy with glycogen deposits and absence of myophosphorylase. PYGM gene with homozygous mutations in all. Dietary treatment attenuated their symptoms during aerobic exercises. CONCLUSIONS:The ischemia test was very useful to demonstrate a dysfunction in anaerobic glycolysis. It is worth noting that oral glucose supplementation is very useful in McArdle disease, but is contraindicated in all six defects of anaerobic glycolysis. The algorithm also allows targeting the defect of 20 metabolic or structural myopathies, which are summarized.(AU)

Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).

INTRODUCTION: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. The development of disease-modifying treatments is significantly changing the natural history of SMA, but uncertainty remains about which patients can benefit from these treatments and how that benefit should be measured. METHODOLOGY: A group of experts specialised in neurology, neuropediatrics, and rehabilitation and representatives of the Spanish association of patients with SMA followed the Delphi method to reach a consensus on 5 issues related to the use of these new treatments: general aspects, treatment objectives, outcome assessment tools, requirements of the treating centres, and regulation of their use. Consensus was considered to be achieved when a response received at least 80% of votes. RESULTS: Treatment protocols are useful for regulating the use of high-impact medications and should guide treatment, but should be updated regularly to take into account the most recent evidence available, and their implementation should be assessed on an individual basis. Age, baseline functional status, and, in the case of children, the type of SMA and the number of copies of SMN2 are characteristics that should be considered when establishing therapeutic objectives, assessment tools, and the use of such treatments. The cost-effectiveness of these treatments in paediatric patients is mainly influenced by early treatment onset; therefore, the implementation of neonatal screening is recommended. CONCLUSIONS: The RET-AME consensus recommendations provide a frame of reference for the appropriate use of disease-modifying treatments in patients with SMA.

Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne / Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy

Introducción: La distrofia muscular de Duchenne (DMD) es la miopatía más frecuente en niños, con una prevalencia mundial de aproximadamente 0,5 por cada 10.000 varones. Se caracteriza por una debilidad muscular progresiva al inicio de la infancia con aparición posterior de complicaciones musculoesqueléticas, respiratorias y cardíacas que ocasionan discapacidad, dependencia y muerte prematura. Actualmente su tratamiento se fundamenta en medidas sintomáticas multidisciplinares que han modificado favorablemente el curso de la enfermedad, por lo que resulta crucial establecer unas directrices claras y actualizadas que permitan tanto una detección temprana de la enfermedad como un adecuado tratamiento y seguimiento de sus posibles complicaciones. Desarrollo: Con el fin de obtener una visión general de los aspectos abordados por las guías actuales y detectar aquellos en los que todavía no existe un consenso y su abordaje sea relevante, se realizó una revisión de la literatura en la base de datos biomédicas de los últimos 10 años. El grado de evidencia y el nivel de recomendación de la información obtenida se clasificaron y ordenaron de acuerdo con los criterios de la American Academy of Neurology (AAN). Conclusiones: El abordaje de la DMD debe ser multidisciplinar y ajustado al perfil del paciente y su grado de evolución clínica, comprendiendo, además del tratamiento basado en corticoides, medidas a nivel gastrointestinal, respiratorio, cardiaco, fisioterapéutico y ortopédico dirigidas a mejorar la calidad de vida de los pacientes. Los estudios genéticos desempeñan un papel clave en el manejo de la enfermedad, tanto en la detección de casos y posibles portadoras como en la caracterización de la mutación implicada y el desarrollo de nuevas terapias

Introduction: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. Development: We performed a literature search of the main biomedical databases for articles published in the last 10 years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. Conclusions: DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients' quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies

Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy. / Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne.

INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. DEVELOPMENT: We performed a literature search of the main biomedical databases for articles published in the last 10years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. CONCLUSIONS: DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients' quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies.

Absceso cerebral secundario a cardiopatía congénita cianógena / Brain abscess secondary to cyanogenic congenital heart disease

Las cardiopatías congénitas cianógenas (CCC) son el factor predisponerte más importante en la aparición del absceso cerebral en la infancia. El diagnóstico del absceso cerebral en fase inicial es difícil pues se confunde a menudo con otros procesos neurológicos tales como tumores cerebrales, infartos o hemorragias, como sucedió en nuestro caso. La TC Craneal con contraste es el examen de elección para el diagnóstico precoz en cualquier niño con CCC que presente sintomatología neurológica. La RM con espectroscopia puede ser de gran ayuda en casos dudosos. El diagnóstico y tratamiento precoces disminuyen claramente la mortalidad y morbilidad de esta patología, permite iniciar tratamiento lo más pronto posible, hecho que se correlaciona con un mejor pronóstico. Presentamos el caso de un niño con una CCC y clínica neurológica de instauración aguda y recurrente, secundaria a un absceso cerebral y cuyo diagnóstico ofreció serias dudas en las fases iniciales (AU)