Clinical, pathological, and electron microscopic findings in two Thai children with Pompe disease.
Artigo
em Inglês
| IMSEAR
| ID: sea-38534
ABSTRACT
The authors report on a Thai boy who first presented at age 7 months and an unrelated Thai girl in her neonatal period with hypotonia, cardiomegaly and hepatomegaly. Their chest roentgenograms showed markedly enlarged hearts, EKGs showed abnormally shortened PR intervals with gigantic QRS complexes, and electron microscopic studies of their skin samples showed glycogen accumulations surrounded by membranes. The boy died at age 22 months and the girl at age 9 months due mainly to cardiorespiratory failure. Autopsy of the girl showed marked accumulation of glycogen in the liver, heart and numerous additional tissues including her brain. The clinical, pathological, and electron microscopic findings of these two children are consistent with the diagnosis of Pompe disease. Pompe disease is an autosomal recessive disorder of glycogen metabolism resulting from deficiencies in activity of the lysosomal acid alpha-glucosidase. Definite diagnosis of the disease can be made from a biochemical test or a mutation analysis. To the authors' knowledge, no service laboratories in Thailand offer the tests. Because Thai children have occasionally been reported to be affected by Pompe disease, an attempt to establish a definite diagnostic test for Pompe disease in Thailand should be encouraged. With a definite diagnosis, the proper genetic counseling and prenatal diagnosis could be offered to the families.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Tailândia
/
Biópsia por Agulha
/
Feminino
/
Humanos
/
Masculino
/
Imuno-Histoquímica
/
Microscopia Eletrônica
/
Doença de Depósito de Glicogênio Tipo II
/
Evolução Fatal
/
Medição de Risco
Tipo de estudo:
Estudo de etiologia
/
Fatores de risco
País/Região como assunto:
Ásia
Idioma:
Inglês
Ano de publicação:
2002
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS