RESUMEN
Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 (ABCA3) was first reported. Few cases of lethal adenosine triphosphate-binding cassette transporter A3 mutations have been described to date. In our report, we describe a full-term newborn that died because of respiratory failure secondary to an uncommon ABCA3 genetic configuration.
Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , Mutación , Insuficiencia Respiratoria/genética , Presión de las Vías Aéreas Positiva Contínua , Resultado Fatal , Humanos , Recién Nacido , Masculino , Radiografía Torácica , Recurrencia , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Insuficiencia Respiratoria/diagnóstico por imagen , Insuficiencia Respiratoria/terapia , Retratamiento , Tomografía Computarizada por Rayos X , Insuficiencia del TratamientoRESUMEN
We report the case of a 6-week-old female who presented an intracranial hemorrhage due to late vitamin K deficiency bleeding (VKDB). No other evident bleeding sites were present at the moment of diagnosis. Intramuscular vitamin K (1 mg) was administered at birth. She was exclusively breast-fed. No other risk factors for VKDB were detected. Low levels of vitamin K-dependent coagulation factors and their normalization after vitamin K administration confirmed the diagnosis of late VKDB. The present case suggests potential risks related to a single dose of intramuscular vitamin K at birth.
