[Delay in the diagnosis of McArdle's disease]. / Retraso en el diagnóstico de la enfermedad de McArdle.
An Med Interna
; 11(3): 136-8, 1994 Mar.
Article
em Es
| MEDLINE
| ID: mdl-8011875
We describe the case of a 14-year-old patient with fatigability and muscular cramps beginning in the first infancy and started by physical exercise. The clinical record, the increase of creatinine-kinase without clinical or biological signs of inflammation and the electromyographic normality, suggested the presence of this disease, which was confirmed through microscopic studies (optic and electronic) and histochemistry. We review the clinical and biological characteristics, the diagnostic methods for this type of glycogenosis and its differential diagnosis, because we think that the low suspicion levels among the clinicians contribute to the few cases published in the literature.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio Tipo V
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
Es
Ano de publicação:
1994
Tipo de documento:
Article