Publication: Distrofia muscular de Duchenne: Presentación atípica y diagnóstico precoz.
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Date
2015-06
Authors
Cabezudo García, Pablo
Moreno Medinilla, Esther
Calvo Medina, Rocío
Mora Ramírez, María Dolores
Martínez Antón, Jacinto
Advisors
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Journal ISSN
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Publisher
Sociedad Argentina de Pediatría
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Abstract
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.
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.
Description
English Abstract; Journal Article;
MeSH Terms
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Cytological Techniques::Cytodiagnosis::Biopsy
Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Nitrogenous Group Acceptor)::Creatine Kinase
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Cytoskeletal Proteins::Dystrophin
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Early Diagnosis
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Electrodiagnosis::Electromyography
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Failure to Thrive
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Health Care::Health Care Facilities, Manpower, and Services::Health Facilities::Hospitals
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Incidence
Medical Subject Headings::Named Groups::Persons::Age Groups::Infant
Medical Subject Headings::Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Reproduction::Pregnancy::Pregnancy Outcome::Live Birth
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Nutrition Disorders::Malnutrition
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neuromuscular Manifestations::Muscle Hypotonia
Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Muscular Dystrophy, Duchenne
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
Medical Subject Headings::Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Reproduction::Pregnancy
Medical Subject Headings::Health Care::Population Characteristics::Demography::Vital Statistics::Morbidity::Prevalence
Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Nitrogenous Group Acceptor)::Creatine Kinase
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Cytoskeletal Proteins::Dystrophin
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Early Diagnosis
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Electrodiagnosis::Electromyography
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Failure to Thrive
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Health Care::Health Care Facilities, Manpower, and Services::Health Facilities::Hospitals
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Incidence
Medical Subject Headings::Named Groups::Persons::Age Groups::Infant
Medical Subject Headings::Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Reproduction::Pregnancy::Pregnancy Outcome::Live Birth
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Nutrition Disorders::Malnutrition
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neuromuscular Manifestations::Muscle Hypotonia
Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Muscular Dystrophy, Duchenne
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
Medical Subject Headings::Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Reproduction::Pregnancy
Medical Subject Headings::Health Care::Population Characteristics::Demography::Vital Statistics::Morbidity::Prevalence
DeCS Terms
CIE Terms
Keywords
Transaminases, Failure to thrive, Duchenne muscular dystrophy, Early diagnosi, Electromiografía, Insuficiencia de crecimiento, Femenino, Hospitales, Humanos, Incidencia, Lactante, Nacimiento vivo, Masculino, Desnutrición, Hipotonía muscular, Distrofia Muscular de Duchenne, Mutación, Embarazo, Prevalencia, Diagnóstico precoz, Distrofina, Creatina quinasa, Biopsia
Citation
Cabezudo 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):e149-52