A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation
Journal of Korean Medical Science
;
: 221-224, 1993.
Artigo
em Inglês
| WPRIM
| ID: wpr-195990
ABSTRACT
We describe a case of the juvenile form of Pompe's disease that presented as primary alveolar hypoventilation due to respiratory muscle involvement. This 17-year-old girl had been asymptomatic until this admission, although she had a delayed puberty. Arterial blood gas analysis, pulmonary function test as well as physical findings were compatible with chronic alveolar hypoventilation syndrome. Since she had lower extremity muscle weakness and pseudomyotonic discharge on electromyography a muscle biopsy was done, which revealed glycogen storage disease. The patient was managed successfully with nasal intermittent positive pressure ventilation.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Alvéolos Pulmonares
/
Doença de Depósito de Glicogênio Tipo II
/
Doença Crônica
/
Ventilação com Pressão Positiva Intermitente
/
Hipoventilação
/
Músculos
Limite:
Adolescente
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
1993
Tipo de documento:
Artigo
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