Doença de Pompe ou glicogenose tipo IIa / Pompe's disease or type IIa glycogenosis
Arq. bras. cardiol
;
73(5): 435-40, Nov. 1999. ilus
Article
in English, Portuguese
| LILACS
| ID: lil-261165
ABSTRACT
This is the report of a five-month-old child presenting clinical evidence of Pompe's disease severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the echocardiogram revealed marked left ventricular hypertrophy - the most typical finding of this disease. A skeletal muscle biopsy led to final diagnosis, because in the histopathologic study marked increased glycogen accumulation was evident. Death occurred two months after symptom onset.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Glycogen Storage Disease Type II
Limits:
Female
/
Humans
/
Infant
Language:
English
/
Portuguese
Journal:
Arq. bras. cardiol
Journal subject:
Cardiology
Year:
1999
Type:
Article
Affiliation country:
Brazil
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