Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature.
Am J Perinatol
; 26(10): 711-6, 2009 Nov.
Article
em En
| MEDLINE
| ID: mdl-19452427
ABSTRACT
Generalized arterial calcification of infancy (GACI) is a rare genetic disorder consisting of diffuse arterial calcification and intimal proliferation. The disease typically results in progressive arterial stenosis and frequently leads to death from myocardial ischemia by 6 months of life. Affected infants are usually diagnosed before birth or in the neonatal period with symptoms of congestive heart failure. Therapy with bisphosphonate has been used to treat the condition, but with inconsistent results. The disease is associated with mutations in ENPP1 in the majority of the cases. Here we report a unique case of GACI associated with in utero meconium peritonitis and without coding region mutations of the ENPP1 gene. GACI should be considered in the differential diagnosis in infants presenting with arterial calcifications and congenital anomalies of the gastrointestinal tract.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças da Aorta
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Peritonite
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Anormalidades Múltiplas
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Calcinose
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Mecônio
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Adult
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Female
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Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article