[Acute disseminated encephalomyelitis in children]. / Encefalomielitis aguda diseminada en la niñez.

AIM: Acute disseminated encephalomyelitis (ADEM) is an immune-mediated inflammatory-demyelinating disease, which usually follows an infection or vaccination. It is more frequent in children. In this paper, I will review clinical, diagnosis, treatment, and prognosis data, based on last 10 years papers, including our experience with 42 patients studied at Calvo Mackenna Hospital and German Clinic of Santiago de Chile, Chile. DEVELOPMENT: ADEM symptoms present 2 to 30 days after viral or bacterial infection. There is a slight male predominance (1,3:1). The clinical picture is characterized by multiple symptoms. Prominent findings are altered level of consciousness in 50-60% of patients, and motor system dysfunction in 80-90%. Spinal cord dysfunction occurs in 20-25% of children. Optic neuritis (10-20%) is usually bilateral. Magnetic resonance imaging is the gold standard to detect typical white matter lesions, which suggest ADEM diagnosis, but a clinico-neuroimaging gap may occurs. Steroids are the first choice for treatment. In practice, they seem to be useful in up to 90% of patients. Recurrences occur in 10-30% of cases, and raise a differential diagnosis with multiple sclerosis. Mortality is as low as 0-7%. Sequelae are seen in 10-20% of patients. CONCLUSIONS: ADEM is a demyelinating condition, usually with a monophasic course and good outcome. The only way to confirm a definite diagnosis is long-term follow-up.

Encefalomielitis aguda diseminada en la niñez / Acute disseminated encephalomyelitis in children

Objetivo. La encefalomielitis aguda diseminada (EMAD)es una enfermedad inflamatorio-desmielinizante, mediada inmunológicamente,que se presenta usualmente después de una infeccióno vacunación. Es más frecuente en el niño. Se revisan aspectos clínicos,diagnósticos, terapéuticos y pronósticos de la EMAD infantilpublicado en los últimos 10 años, y se incluye además nuestraserie de 42 niños del Hospital Luis Calvo Mackenna y de la ClínicaAlemana de Santiago de Chile. Desarrollo. La EMAD se presentade 2 a 30 días después de infección viral o bacteriana. Predominalevemente en niños (1,3:1). La clínica es polisintomática. Destacanla afectación de la conciencia en el 50-60% y los trastornos motoresen el 80-90% de los pacientes. La afectación medular se observaen el 20-25%, mientras que la neuritis óptica (generalmentebilateral) aparece en el 10-20% de los niños. La resonancia magnéticaes la mejor prueba para lograr el diagnóstico de EMAD, yaque detecta lesiones multifocales de la sustancia blanca, aunqueéstas pueden aparecer más tardíamente, con un desfase clinicoimagenológicode 5 a 22 días. El tratamiento de elección son los corticoides.En la práctica, parecen tener un efecto beneficioso en hastael 90% de los pacientes. Las recidivas se presentan en el 10-30%de los casos, y plantean diagnóstico diferencial con esclerosis múltiple.La mortalidad es baja, del 0 al 7%. Las secuelas alcanzan el10-20%. Conclusiones. La EMAD es una enfermedad desmielinizantedel sistema nervioso, cuyo curso habitual es monofásico y suevolución favorable. El diagnóstico definitivo sólo se logra medianteel seguimiento prolongado

Aim. Acute disseminated encephalomyelitis (ADEM) is an immune-mediated inflammatory-demyelinating disease,which usually follows an infection or vaccination. It is more frequent in children. In this paper, I will review clinical, diagnosis,treatment, and prognosis data, based on last 10 years papers, including our experience with 42 patients studied at CalvoMackenna Hospital and German Clinic of Santiago de Chile, Chile. Development. ADEM symptoms present 2 to 30 days afterviral or bacterial infection. There is a slight male predominance (1,3:1). The clinical picture is characterized by multiplesymptoms. Prominent findings are altered level of consciousness in 50-60% of patients, and motor system dysfunction in 80-90%.Spinal cord dysfunction occurs in 20-25% of children. Optic neuritis (10-20%) is usually bilateral. Magnetic resonance imagingis the gold standard to detect typical white matter lesions, which suggest ADEM diagnosis, but a clinico-neuroimaging gap mayoccurs. Steroids are the first choice for treatment. In practice, they seem to be useful in up to 90% of patients. Recurrences occurin 10-30% of cases, and raise a differential diagnosis with multiple sclerosis. Mortality is as low as 0-7%. Sequelae are seen in10-20% of patients. Conclusions. ADEM is a demyelinating condition, usually with a monophasic course and good outcome.The only way to confirm a definite diagnosis is long-term follow-up

[Updates in muscular dystrophies]. / Actualización en distrofias musculares.

INTRODUCTION: Advances in molecular genetics on lasts 15 years had modified profoundly our knowledge about muscular dystrophies. The pathogenia, caused by defectives proteins which disrupt dystrophin-associated-protein complex in most of the dystrophies, has generate a new classification based in protein and genomic defects. DEVELOPMENT: In this review, clinical, genetic, diagnostic and therapeutic aspects of the main muscular dystrophies are described. Limb girdle muscular dystrophies with Duchenne-like phenotype (sarcoglycanopathies), are identified by immunohistochemistry, as X-linked Emery-Dreifuss muscular dystrophy (emerin deficit), and classical congenital muscular dystrophy (merosine depletion). The others limb girdle muscular dystrophies, an heterogeneous phenotypical group, are detected by Western blot (mainly calpainopathies), or inmunohistochemistry in muscle (caveolinopathies) and blood (dysferlinopathies). Congenital muscular dystrophies with brain malformations: Fukuyama, muscle-eye-brain, and Walker-Warburg syndrome; and fukutin-related protein dystrophy, only may be differentiated by genetic analysis. All them shows alpha-dystroglican depletion. Autosomal dominant Emery-Dreifuss muscular dystrophy and facioscapulohumeral dystrophy are exclusively identified by DNA study. Finally, Duchenne/Becker muscular dystrophies are diagnosed by immunohistochemistry, Western blot and/or DNA analysis. Treatment of muscular dystrophies is based in physiotherapy, ventilatory support, surgery and drugs (mainly steroids, effective in Duchenne/Becker muscular dystrophies). CONCLUSION: Genic and cellular therapy are yet on experimental field, and are matter of the future. Now, accurate diagnosis is important for therapeutic management, prognosis and genetic counseling.

Actualización en distrofias musculares / Updates in muscular dystrophies

Introducción. Los avances en genética molecular de los últimos quince años han modificado profundamente nuestros conocimientos con relación a las distrofias musculares. La clarificación de la patogenia, debida a déficit de una proteína específica que altera el complejo de proteínas asociadas a la distrofina en la mayoría de las distrofias, ha generado una nueva clasificación basada en el defecto proteico y genómico. Desarrollo. En esta revisión se describe la clínica, la genética, el diagnóstico y el tratamiento de las principales distrofias musculares. Las distrofias de cinturas con fenotipo similar a Duchenne (sarcoglicanopatías) se detectan por inmunohistoquímica, igual que la distrofia muscular de Emery-Dreifuss ligada al cromosoma X (déficit de emerina) y la distrofia muscular congénita clásica (déficit de merosina). Las demás distrofias de cinturas, de fenotipo heterogéneo, se confirman por inmunotinción en el músculo (disferlinopatías, caveolinopatías) y por Western blot (especialmente calpainopatías). Las distrofias musculares congénitas con malformaciones cerebrales (Fukuyama, músculo-ojo-cerebro y síndrome Walker-Warburg), y la distrofia por defecto de FKRP (del inglés fukutin related protein), sólo pueden diferenciarse mediante un estudio genético. Todas ellas muestran depleción de -distroglicano en el músculo. La distrofia muscular de EmeryDreifuss autosómica dominante y la distrofia facioescapulohumeral se confirman mediante el estudio del ADN. La distrofia muscular de Duchenne/Becker, finalmente, se detecta por inmunohistoquímica, Western blot y/o análisis de ADN. El tratamiento de las distrofias musculares se basa en fisioterapia, apoyo ventilatorio, cirugía, y fármacos (especialmente corticoides, beneficiosos en la distrofia muscular de Duchenne/Becker). Conclusión. La terapia génicocelular se mantiene en un plano experimental y todavía es una posibilidad futura. Por ahora, el diagnóstico preciso de la distrofia muscular permite efectuar un plan de manejo, un pronóstico y un consejo genético adecuado (AU)

Introduction. Advances in molecular genetics on lasts 15 years had modified profoundly our knowledge about muscular dystrophies. The pathogenia, caused by defectives proteins which disrupt dystrophin-associated-protein complex in most of the dystrophies, has generate a new classification based in protein and genomic defects. Development. In this review, clinical, genetic, diagnostic and therapeutic aspects of the main muscular dystrophies are described. Limb girdle muscular dystrophies with Duchenne-like phenotipe (sarcoglycanopathies), are identified by immunohistochemistry, as X-linked EmeryDreifuss muscular distrophy (emerin deficit), and classical congenital muscular dystrophy (merosine depletion). The others limb girdle muscular dystrophies, an heterogeneous phenotypical group, are detected by Western blot (mainly calpainopathies), or inmunohistochemistry in muscle (caveolinopathíes) and blood (dysferlinopathies). Congenital muscular dystrophies with brain malformations: Fukuyama, muscle-eye-brain, and Walker-Warburg syndrome; and fukutin-related protein dystrophy, only may be differentiated by genetic analysis. All them shows alpha-dystroglican depletion. Autosomal dominant Emery-Dreifuss muscular distrophy and facioscapulohumeral dystrophy are exclusively identified by DNA study. Finally, Duchenne/Becker muscular dystrophies are diagnosed by immunohistochemistry, Western blot and/or DNA analysis. Treatment of muscular dystrophies is based in physiotherapy, ventilatory support, surgery and drugs (mainly esteroids, effective in Duchenne/Becker muscular dystrophies). Conclusion. Genic and cellular therapy are yet on experimental field, and are matter of the future. Now, accurate diagnosis is important for therapeutic management, prognosis and genetic counseling (AU)

[Neonatal hypotonia]. / Hipotonía neonatal.

INTRODUCTION: Neonatal hypotonia is a condition which appears to expand continually. Since the 1980s new clinical disorders, such as mitochondriopathies, peroxisomal diseases, disorders of the beta-oxidation of fatty acids, congenital myasthenic syndromes and botulism in infants have been described. At the same time, considerable progress has been made in the understanding of congenital myopathies, congenital muscular dystrophy and neonatal myotonic dystrophy. In this review we describe the most relevant conditions in which hypotonia is seen, and give guidelines for orientation in the study of newborn babies with this condition. We emphasize the importance of a clinical approach based on the family history (myotonic dystrophy, transitory neonatal myasthenia), the prenatal history (fetal movements, polyhydramnios) and neurological examination (facial diplegia, lingual fasciculations, arthrogryposis, respiratory difficulty) which permits early completion of studies, including muscle biopsy--very useful in the neonatal period--and genetic analysis. This allows the prognosis of the condition to be established early so that timely and effective genetic counselling may be given to the parents, avoiding recurrence of the serious morbi-mortality of many of these conditions.

Hipotonía neonatal / Neonatal hypotonia

Introducción. La hipotonía neonatal es un cuadro en permanente expansión. A partir de la década de los 80, se han agregado nuevas entidades clínicas, como mitocondriopatías, enfermedades peroxisomales, trastornos de la betaoxidación de los ácidos grasos, síndromes miasténicos congénitos y botulismo del lactante. A la vez, se ha avanzado mucho en el conocimiento de las miopatías congénitas, distrofia muscular congénita y distrofia miotónica neonatal. Desarrollo y conclusiones. En esta revisión se describen los cuadros más relevantes que producen hipotonía, y se dan pautas para orientar el estudio de los recién nacidos afectados. Se enfatiza la importancia de la orientación clínica basada en antecedentes familiares (distrofia miotónica, miastenia neonatal transitoria), prenatales (movimientos fetales, polihidroamnios) y examen neurológico (diplejía facial, fasciculaciones linguales, artrogriposis, dificultad respiratoria), que permite completar tempranamente los estudios, incluidos la biopsia muscular -de gran valor en el período neonatal- y el análisis genético. Ello hace posible establecer precozmente el pronóstico de la enfermedad y dar consejo genético oportuno y eficaz a los padres, evitando la recurrencia de la grave morbimortalidad que muchas de estas enfermedades conllevan (AU)