European journal of pediatrics
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Vasopressin is emerging as a therapeutic adjunct option towards treatment of shock states in the pediatric population. Its effects on pulmonary vasculature are less well understood. This report describes a 5-month-old infant with nitric oxide-unresponsive pulmonary hypertension, oxygenation failure, and systemic hypotension. Vasopressin therapy improved oxygenation and blood pressure and biventricular function, allowing weaning of nitric oxide and inotropic support. No decrease in coronary flow was noted. ⋯ Vasopressin could be considered as an adjunct option in infants with pulmonary hypertension and systemic hypotension. Echocardiographic monitoring during treatment is recommended.
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Wolcott-Rallison syndrome has been reported to be associated with early-onset diabetes, epiphyseal dysplasia, hepatic and renal dysfunction, mental retardation, severe growth retardation, neutropenia, exocrine pancreatic dysfunction, and central hypothyroidism. We report on primary hypothyroidism, which has not been previously described, of a patient with Wolcott-Rallison syndrome due to novel mutation (W521X), who showed improved growth after thyroid hormone treatment.
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Mutations in the gene for adenosine triphosphate-binding cassette transporter subfamily A member 3 (ABCA3) have been reported in infants and children with surfactant deficiency and interstitial lung disease. We report a case of siblings found to be compound heterozygotes for two novel ABCA3 gene mutations but developing very different course of lung disease. ⋯ Our findings suggest the contribution of other genetic, epigenetic and environmental factors to discordant phenotype observed in patients carrying the same mutations in the ABCA3 gene. The clinical course of the index case suggests benefit of combined medical therapy in treating infants with ABCA3 deficiency.
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The treatment of neonatal limb ischemia (LI) is challenging for neonatologists. Peripheral nerve blockade (PNB), alone or in association with other therapies, represents a valid therapy in case of vascular spasm or thromboembolic events responsible for LI. ⋯ PNB was not performed according to the traditional technique but rather by a peridural catheter left in situ for 9 days with a continuous infusion of ropivacaine. In conclusion, the effectiveness of this approach was confirmed by the contemporary near-infrared spectroscopy monitoring, documenting gradual improvement of leg perfusion.