[A new phenotype of infantile-onset Pompe disease]. / Nuevo fenotipo de la enfermedad de Pompe infantil.

INTRODUCTION: Infantile-onset Pompe disease is a kind of glycogenosis resulting from a deficit of the enzyme acid alpha-glucosidase. Before specific enzyme replacement therapy (ERT) became available, the classic form was fatal during the first two years of life. ERT increases survival and improves cardiac, respiratory and motor functioning. CASE REPORTS: Case 1: 2-month-old infant with predominantly axial hypotonia who required the use of a nasogastric tube as a result of difficulties in sucking and swallowing. Myopathy and hypertrophic cardiomyopathy were observed. The patient was diagnosed with Pompe disease, ERT was established and improved heart and motor functioning were noted. Nevertheless, she presented recurring respiratory infections that finally made it necessary to perform a tracheostomy. She is currently still undergoing ERT, walks with a walker and presents a mild ventricular dysfunction. Case 2: 3-week-old infant who was taken to see his paediatrician for a routine check-up. The examination revealed a systolic bruit and axial and proximal hypotonia. Cardiology tests revealed hypertrophic cardiomyopathy. The patient was sent to a referral centre, where he was diagnosed with Pompe disease and a cross-reactive immunological material-negative status. The patient received immunomodulator treatment and ERT. Progress was favourable, although he presented frequent respiratory infections. The patient is currently capable of walking by himself, although the gait is unsteady. CONCLUSIONS: Both cases illustrate the new phenotype of infantile-onset Pompe disease treated with ERT. Despite the motor limitations and respiratory involvement presented by the patients, both survival and autonomy have increased.

TITLE: Nuevo fenotipo de la enfermedad de Pompe infantil.Introduccion. La enfermedad de Pompe infantil es una glucogenosis por deficiencia de la enzima alfa-glucosidasa acida. Antes de disponer del tratamiento enzimatico sustitutivo (TES) especifico, la forma clasica era mortal antes de los 2 años de vida. El TES aumenta la supervivencia y mejora la funcion cardiaca, respiratoria y motora. Casos clinicos. Caso 1: lactante de 2 meses con hipotonia de predominio axial y portadora de sonda nasogastrica por dificultades en la succion y la deglucion. Se evidencio miopatia y miocardiopatia hipertrofica. Se diagnostico enfermedad de Pompe, se inicio TES y se observo una mejoria de la funcion cardiaca y motora. Sin embargo, presento infecciones respiratorias recurrentes que finalmente obligaron a una traqueostomia. Actualmente continua con TES, camina con un andador y presenta una disfuncion ventricular leve. Caso 2: lactante de 3 semanas que acudio a revision rutinaria por su pediatra. En la exploracion se aprecio un soplo sistolico e hipotonia axial y proximal. En las pruebas cardiologicas se evidencio una miocardiopatia hipertrofica. Se envio al paciente a un centro de referencia donde se diagnostico enfermedad de Pompe y un estado del material inmunologico con reactividad cruzada negativo. El paciente recibio tratamiento inmunomodulador y TES. La evolucion fue favorable, aunque presento infecciones respiratorias frecuentes. En la actualidad ha conseguido la deambulacion autonoma, pero la marcha es inestable. Conclusiones. Ambos casos ilustran el nuevo fenotipo de la enfermedad de Pompe infantil tratada con TES. A pesar de las limitaciones motoras y la afectacion respiratoria que presentan los pacientes, la supervivencia y la autonomia han aumentado.

[Clinical guidelines for infantile-onset Pompe disease]. / Guia clinica de la enfermedad de Pompe infantil.

Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

TITLE: Guia clinica de la enfermedad de Pompe infantil.La enfermedad de Pompe infantil tiene un pronostico fatal a corto plazo si no se diagnostica precozmente ni se inicia un tratamiento enzimatico sustitutivo lo antes posible. Un grupo de especialistas de las diferentes disciplinas involucradas en esta enfermedad ha revisado la evidencia cientifica actual y ha elaborado por consenso una serie de recomendaciones para el diagnostico, el tratamiento y el seguimiento de los pacientes. Se recomienda instaurar tratamiento enzimatico en todo paciente con enfermedad de Pompe sintomatica de comienzo en el primer año de vida, con diagnostico clinico y enzimatico, y una vez conocido el estado CRIM (material inmunologico con reactividad cruzada).