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Acta Médica Costarricense
versión On-line ISSN 0001-6002versión impresa ISSN 0001-6012
Resumen
RUIZ-SALAZAR, Francis et al. Neonatal Diabetes Mellitus in Costa Rica. Acta méd. costarric [online]. 2014, vol.56, n.3, pp.128-133. ISSN 0001-6002.
Neonatal diabetes mellitus s a rare metabolic disease that usually develops in the first 6 weeks of life. It is caused by a group of mutations and birth defects in the organogenesis of the pancreas that could be catastrophic if not identified early. It is divided in a transient and a permanent variant, the first one is more frequent as it is related to 60% of cases. The initial treatment in both variants is intensive insulin therapy, but in the transient variant it may be suspended in the first months of life. IPEX syndrome is an extremely rare cause of permanent neonatal diabetes, usually mortal, characterized by severe immunological compromise, enteropathy, diabetes and dermatitis. In this study we describe four cases of NDM diagnosed at the National Children’s Hospital in San José, Costa Rica; 2 cases correspond to the transitory variant and 2 to the permanent variant, one of the latter is an IPEX syndrome case.
Palabras clave : Diabetes neonatal in Costa Rica; nsitory neonatal diabetes; permanent neonatal diabetes; IPEX.