Reversible prostaglandin-induced cortical hyperostosis in an infant without 3040C→T mutation in COL1A1
en Inglés
| IMSEAR
| ID: sea-129909
ABSTRACT
Background:
A hereditary form of infantile cortical hyperostosis (ICH), known as Caffey disease, was recently found to be caused by a heterozygous 3040C → T mutation in the COL1A1 gene.Objective:
To determine whether a similar mutation was also responsible for a sporadic case of ICH.Methods:
We identified a Thai male infant who was a sporadic case of ICH. He had symmetric cortical hyperostosis of all of his long bones, clavicles, and ribs occurring after a prolonged infusion of prostaglandin E1 (PGE1) for a cyanotic congenital heart disease. Mutation analysis of COL1A1 was performed in the patient and his parents by restriction enzyme digestion of PCR products.Results:
The particular mutation was not found in our case and in his parents. A follow-up after 15 months demonstrated that the child had normal growth and development. Repeated imaging studies revealed markedly decreased cortical thickenings of the affected bones.Conclusion:
Our findings confirm that PGE1-induced cortical hyperostosis is reversible and does not associate with the COL1A1 3040C→T mutation. Keywords COL1A1, infantile cortical hyperostosis, prostaglandin, reversible.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Tipo de estudio:
Estudio pronóstico
Idioma:
Inglés
Año:
2010
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