RESUMEN
UNLABELLED: Congenital central hypoventilation syndrome (CCHS, Ondine's curse syndrome) is a rare respiratory disorder; less than 100 cases have been reported. Familiality of the disease has been discussed, but only few familial cases have been reported so far. In this report we describe the occurrence of CCHS in two male siblings. Diagnosis was established only at the age of 4 years in the first case, although the patient had disease related symptoms since early infancy. The second patient was one of dizygotic twins, he was diagnosed with CCHS at the age of 8 months. Up to that age only moderate desaturations had been observed. The other twin was unaffected by the disease. Both patients were successfully treated by nocturnal positive-pressure ventilation via a specially adapted face mask. They show satisfactory physical and neurologic development. CONCLUSION: Our cases support the assumption of familiality in CCHS although the mode of inheritance remains to be clarified. Polygraphic recordings including capnography should be performed in siblings of CCHS patients early in life in order to avoid secondary complications. Noninvasive treatment by ventilation via special face masks is feasible.
Asunto(s)
Síndromes de la Apnea del Sueño , Niño , Preescolar , Enfermedades en Gemelos , Humanos , Respiración con Presión Positiva , Síndromes de la Apnea del Sueño/congénito , Síndromes de la Apnea del Sueño/diagnóstico , Síndromes de la Apnea del Sueño/terapiaRESUMEN
We present a case of extralobar pulmonary sequestration between the left lower lobe and diaphragm with an unusual arterial blood supply and venous drainage. Angiography revealed a large systemic artery arising from the left subclavian artery. The venous return paralleled this anomalous artery and drained into the left subclavian vein. This case illustrates the wide anatomic variability of such complex bronchovascular anomalies. Careful preoperative evaluation of both the arterial supply and venous drainage is important to avoid intraoperative complications. Angiography provides clear definition of these abnormal vascular structures, which is essential for appropriate therapeutic management.
Asunto(s)
Secuestro Broncopulmonar/fisiopatología , Circulación Colateral , Arteria Subclavia , Vena Subclavia , Secuestro Broncopulmonar/diagnóstico por imagen , Secuestro Broncopulmonar/cirugía , Femenino , Humanos , Lactante , Radiografía , Arteria Subclavia/diagnóstico por imagen , Vena Subclavia/diagnóstico por imagenRESUMEN
Up to now, 16.338 IRT-measurements have been carried out on dried blood spot specimens; 15.505 of them were taken in the first week of life. Related to a provisionally chosen cut-off point of 750 ng/ml, 134 newborns (= 0.86%) showed an elevated IRT-value and subsequently were recalled between the fourth and sixth week of life for a second IRT-determination. Twenty-five out of 116 reinvestigated children again showed an elevated value, as based on likewise provisional, age-dependent reference values. Four of these children subsequently were identified as CF patients by sweat testing. So far, we did not encounter any false-negative IRT values. We also commenced to establish a profile of reference values for the first twelve weeks of life; as yet, there are not enough data for definitely defining these limits of normality. In conclusion, IRT-screening appears to be a reliable method for identifying CF patients in the newborn period. Our preliminary results indicate an incidence of CF of 1 to 3880 in the southeast of Austria.
Asunto(s)
Fibrosis Quística/prevención & control , Tamizaje Neonatal/métodos , Radioinmunoensayo , Tripsina/sangre , Austria/epidemiología , Estudios Transversales , Fibrosis Quística/sangre , Fibrosis Quística/epidemiología , Humanos , Incidencia , Lactante , Recién Nacido , Valores de ReferenciaRESUMEN
Up to now 49,116 immunoreactive trypsin (IRT) measurements have been carried out in Austrian newborns in the first week of life. Related to provisionally chosen cut-off points, 301 newborns (0.61%) showed an elevated IRT value; 253 of them were successfully recalled. According to a direct strategy, sweat tests were done without a second IRT measurement in 101 infants; eleven of them were identified as cystic fibrosis (CF) patients. In accordance with a 2-step strategy, 152 infants were reinvestigated by a second IRT determination. Twenty-eight of them again showed an elevated IRT value, as based on provisional, age-dependent reference values; seven were subsequently identified as CF patients by sweat testing. So far two false-negative findings were obtained on IRT screening: one child was later identified as having CF on the basis of typical clinical symptoms and a positive sweat test, the other patient presenting with meconium ileus showed a normal IRT value after surgery, but was subjected to a sweat test in view of the underlying condition. These preliminary results suggest a CF incidence of 1 to 2460 newborns in Austria. Hence, IRT screening appears to be a reliable method for identifying CF patients in the newborn period, thereby facilitating early treatment and genetic counselling.