Pompe's disease or type IIa glycogenosis
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 vent...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Cardiologia (SBC)
1999-11-01
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| Series: | Arquivos Brasileiros de Cardiologia |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X1999001100004 |
| _version_ | 1818451201510866944 |
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| author | José Luiz Balthazar Jacob Rosiene Lisboa Leandro Adelino Parro Jr |
| author_facet | José Luiz Balthazar Jacob Rosiene Lisboa Leandro Adelino Parro Jr |
| author_sort | José Luiz Balthazar Jacob |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T21:03:26Z |
| format | Article |
| id | doaj.art-a93c06ca869f40f39b9d51fde4779fb0 |
| institution | Directory Open Access Journal |
| issn | 0066-782X 1678-4170 |
| language | English |
| last_indexed | 2024-12-14T21:03:26Z |
| publishDate | 1999-11-01 |
| publisher | Sociedade Brasileira de Cardiologia (SBC) |
| record_format | Article |
| series | Arquivos Brasileiros de Cardiologia |
| spelling | doaj.art-a93c06ca869f40f39b9d51fde4779fb02022-12-21T22:47:32ZengSociedade Brasileira de Cardiologia (SBC)Arquivos Brasileiros de Cardiologia0066-782X1678-41701999-11-0173543844010.1590/S0066-782X1999001100004Pompe's disease or type IIa glycogenosisJosé Luiz Balthazar JacobRosiene Lisboa LeandroAdelino Parro JrThis 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X1999001100004 |
| spellingShingle | José Luiz Balthazar Jacob Rosiene Lisboa Leandro Adelino Parro Jr Pompe's disease or type IIa glycogenosis Arquivos Brasileiros de Cardiologia |
| title | Pompe's disease or type IIa glycogenosis |
| title_full | Pompe's disease or type IIa glycogenosis |
| title_fullStr | Pompe's disease or type IIa glycogenosis |
| title_full_unstemmed | Pompe's disease or type IIa glycogenosis |
| title_short | Pompe's disease or type IIa glycogenosis |
| title_sort | pompe s disease or type iia glycogenosis |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X1999001100004 |
| work_keys_str_mv | AT joseluizbalthazarjacob pompesdiseaseortypeiiaglycogenosis AT rosienelisboaleandro pompesdiseaseortypeiiaglycogenosis AT adelinoparrojr pompesdiseaseortypeiiaglycogenosis |