Cabezudo García, PabloMoreno Medinilla, EstherCalvo Medina, RocíoMora Ramírez, María DoloresMartínez Antón, Jacinto2016-12-072016-12-072015-06Cabezudo García P, Moreno Medinilla E, Calvo Medina R, Mora Ramírez MD, Martínez Antón J. Distrofia muscular de Duchenne: Presentación atípica y diagnóstico precoz. Arch Argent Pediatr. 2015; 113(3):e149-520325-0075http://hdl.handle.net/10668/2562English Abstract; Journal Article;Introducción. La distrofia muscular de Duchenne es la forma más habitual de distrofia muscular, con una incidencia de 1/3300 nacimientos de niños vivos de sexo masculino y una tasa de prevalencia en la población total de 3/100 000 individuos. Suele ser hereditaria (recesiva ligada al X), aunque también son frecuentes los casos esporádicos. La edad media de diagnóstico es de 4,83 años, sin embargo, es posible un diagnóstico precoz. Caso clínico. Varón de 18 meses en estudio ambulatorio por fallo en el crecimiento y desnutrición, que ingresa por cuadro respiratorio. En la analítica, se destaca hipertransaminasemia sin otros datos de hepatopatía. La presencia de hipotonía detectada en la exploración orientó al diagnóstico de miopatía, confirmada mediante creatina quinasa elevada y electromiograma. El estudio genético inicial para distrofia muscular de Duchenne fue negativo. La biopsia muscular mostró ausencia completa de distrofina. Una ampliación del estudio genético evidenció una mutación no descrita previamente.INTRODUCTION Duchenne muscular dystrophy is the most common form of muscular dystrophy, with an incidence of 1/3300 male live births and a prevalence rate in the total population of 3/100000 individuals. It is often hereditary (X-linked recessive) but sporadic cases are also frequent. The average age at diagnosis is 4.83 years but an early diagnosis is possible. CLINICAL CASE An 18-month male infant in ambulatory study for failure to thrive and malnutrition was admitted in our hospital for respiratory problems. Hypertransaminasemia without other data of hepatic involvement in addition to hypotonia detected in the examination oriented diagnosis towards myopathy, confirmed by elevated creatine kinase and electromyogram. The genetic study for Duchenne muscular dystrophy was negative. Mutations were not detected. Muscle biopsy showed complete absence of dystrophin. A more sensitive genetic study showed a previously undescribed mutation.spaTransaminasesFailure to thriveDuchenne muscular dystrophyEarly diagnosiElectromiografíaInsuficiencia de crecimientoFemeninoHospitalesHumanosIncidenciaLactanteNacimiento vivoMasculinoDesnutriciónHipotonía muscularDistrofia Muscular de DuchenneMutaciónEmbarazoPrevalenciaDiagnóstico precozDistrofinaCreatina quinasaBiopsiaMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Cytological Techniques::Cytodiagnosis::BiopsyMedical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Nitrogenous Group Acceptor)::Creatine KinaseMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Cytoskeletal Proteins::DystrophinMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Early DiagnosisMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Electrodiagnosis::ElectromyographyMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Failure to ThriveMedical Subject Headings::Check Tags::FemaleMedical Subject Headings::Health Care::Health Care Facilities, Manpower, and Services::Health Facilities::HospitalsMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::IncidenceMedical Subject Headings::Named Groups::Persons::Age Groups::InfantMedical Subject Headings::Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Reproduction::Pregnancy::Pregnancy Outcome::Live BirthMedical Subject Headings::Check Tags::MaleMedical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Nutrition Disorders::MalnutritionMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neuromuscular Manifestations::Muscle HypotoniaMedical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Muscular Dystrophy, DuchenneMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::MutationMedical Subject Headings::Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Reproduction::PregnancyMedical Subject Headings::Health Care::Population Characteristics::Demography::Vital Statistics::Morbidity::Prevalenceresearch article25996334open access10.5546/aap.2015.e1491668-3501