Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015

Introducción El síndrome de hipoventilación central congénita (SHCC) es una enfermedad genética muy rara causada por mutaciones en PHOX2B; en 2010 se creó el Consorcio Europeo del Síndrome de Hipoventilación Central, que en 2012 implantó un Registro online de pacientes para optimizar su cuidado. Objetivo Conocer las características y la evolución de los pacientes españoles con SHCC y detectar áreas de mejora. Materiales y método Se analizaron los datos actualizados en diciembre del 2015 de los pacientes españoles del Registro europeo. Resultados Se registró a 38 pacientes, nacidos entre 1987 y 2013, procedentes de 18 hospitales. El 34, 2% eran mayores de 18 años. Han fallecido 3 pacientes. Aportaban estudio del gen PHOX2B 37 (97, 3%), 32 (86, 5%) con mutación. Los genotipos 20/25, 20/26 y 20/27 representaron el 84, 3% de las mutaciones. Las disautonomías fueron más frecuentes y graves en portadores de genotipos con mayores expansiones de polialaninas. El 47% de pacientes asociaba alteraciones oculares, el 16% Hirschsprung, el 13% hipoglucemias y el 5% tumores. Treinta pacientes (79%) debutaron en el periodo neonatal y 8 (21%) posteriormente (inicio/diagnóstico tardío). Ocho niños (21%) recibieron inicialmente ventilación domiciliaria con mascarilla; 5 eran lactantes con comienzo neonatal, 2 de ellos precisaron cambio a traqueostomía tras presentar parada cardiorrespiratoria; ambos tenían mutaciones graves. Han sido decanulados y transferidos a mascarilla el 34, 3% de los pacientes (edad media: 13, 7 años). El 29, 4% de los niños escolarizados precisaron refuerzo educativo. Conclusión La implementación del Registro en España de pacientes con SHCC ha permitido identificar aspectos relevantes para optimizar sus cuidados, tales como la importancia del estudio genético para el diagnóstico y la estimación de gravedad, la frecuencia elevada de alteraciones oculares y de necesidad de refuerzo educativo, y algunas limitaciones de las técnicas ventilatorias. Introduction Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. Aim To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. Materials and method An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015. Results The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school. Conclusion The implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques

Coincidence of Tracheobronchomegaly (Mounier-Kuhn Syndrome) and Juvenile Idiopathic Arthritis

[eng] Mounier-Kuhn syndrome (MKS) or tracheobronchomegaly includes clinical and radiographic findings of tracheobronchial dilatation and recurrent respiratory infections. MKS is a very rare pathology, especially in the paediatric age group which makes it a diagnostic challenge. A 4-year-old girl suffered from dyspnea, recurrent respiratory infections and joint pain. Chest radiography detected peribronchial reinforcement and CT-scan revealed extended tracheal dilatation and bronchiectasis. In addition to MKS our patient was diagnosed with juvenile idiopathic arthritis (JIA) and scleroderma. MKS can be caused by congenital disorder or acquired aetiology. Several connective tissue diseases have been associated with MKS but no cases of JIA or scleroderma are described previously. Our case illustrates that patients who suffer from recurrent respiratory infections with unsatisfactory evolution and unspecific chest X-ray alteration, MKS always has to be considered in the differential diagnosis particularly in patients who suffer from connective tissue diseases

Utility of fiberoptic bronchoscopy for difficult airway in neonates

[eng] Background: Newborns diagnosed with craniofacial malformations or laryngeal and tracheal alterations may often need advanced airway-management for airway stabilization. Although fiberoptic bronchoscopy (FB) is currently the gold standard for difficult airway management, there is a scarcity of published data on the application of FB in newborns for intubation and controlled extubation (CE). Objectives: This study describes a case series where FB is used for intubation and/or extubation to manage newborns with difficult airway in either urgent procedures or scheduled ones. Methods: All FB were carried out on newborns with difficult airway in the neonatal unit over the period January 2005 to December 2018. Patient characteristics were collected from clinical reports, description of the technique from the procedure report. Results: 66 FBs were performed from a total of 40 newborns, a median age of 25 days and a weight of 3217 g. Eighteen were ex-premature babies (45%). Six (15%) had craniocervical malformations. 17 (25.7%) FBs were performed for tracheal intubation (TI), 6 in emergency situations, 34 (51.5%) for CE, and 15 (22.7%) for precise tube placement. Clearing of the airway was achieved in all cases and thus there were no failed TIs. In 32 cases (94.1%), CE was successfully performed. In 6 cases, withdrawal of the ET midprocedure was decided to postpone as 4 of these required extra treatment prior to renewed extubation attempt and 2 needed a tracheostomy. 2 patients required subsequent FB reintubation due to airway pathology. Complications during the procedure were mild desaturations (3%) and deep desaturations (7.5%). Conclusions: FB is very safe and highly useful when performing intubation in neonates with difficult airway but is essential during extubation to avoid any risk of failure with a potentially fatal outcome. Neonatal units of tertiary hospitals should provide equipment and training to manage these neonates. What is already known? A failed intubation or extubation can lead to cardiac arrest and anoxic brain damage and/or to death in a neonate. Fiberoptic bronchoscopy is recommended as the safest tool for neonates with difficult airway. However, there is little concrete data published in the current literature to support the recommendations. What is new: Fiberoptic bronchoscopy is an essential tool to avoid the risk of a failed extubation in neonates with difficult airwa

Safe uso de sistema bevacizumab para respiratorio recurrente papillomatosis en two children

[eng] Recurrent respiratory papillomatosis can be a devastating condition for a child, with severe consequences. Currently, there is no proven successful medical treatment. We describe the use of systemic bevacizumab to treat two children affected by aggressive recurrent respiratory papillomatosis. Respiratory symptoms and quality of life improved dramatically in both patients, without observing any toxicity. The only complication was mild proteinuria. Systemic bevacizumab is a promising adjuvant treatment in aggressive recurrent respiratory papillomatosis in children. It is effective and well tolerated. Further studies are needed to establish the optimal dosing frequency and duration of therap