Estela Pérez Ruiz

Tracheal bronchus diagnosed in children undergoing flexible bronchoscopy

This paper describes the clinical features of paediatric patients with tracheal bronchus (TB) identified with flexible bronchoscopy (FB) in a tertiary care hospital. A retrospective review of every FB with diagnosis of TB carried out in our centre since 1990 was performed which considered specifically: age at diagnosis, gender, semiology, somatic anomalies, tracheal bronchus type, other bronchoscopic findings and clinical progress. Out of 1665 FB in 1337 patients, TB was found in 26 (1.9%). The median age was 15 months (age range 1 month-13 years), with no gender differences. Of 26 patients, a total of 24 had associated congenital pathologies (92.3%) (heart disease 69%, chromosomal abnormality 35% and spinal fusion defect 11%). FB was performed for a number of reasons including: recurrent or persistent wheezing, pneumonia or atelectasis, persistent stridor and refractory cough. The type of TB identified was primarily ectopic lobar of the right upper lobe (73%) and the apical supernumerary (11.5%). In addition to TB, other defects were found by FB in 90% of cases, such as tracheomalacia, bronchomalacia or tracheal stenosis. The review confirmed a higher prevalence of TB than expected in previous series and highlighted its association with other airway or somatic malformations, notably congenital cardiac defects and spinal fusion defects. All patients were managed conservatively for the TB.

Resultados del programa de screening neonatal de fibrosis quística en Andalucía tras 5 años de su implantación

INTRODUCTION Cystic fibrosis neonatal screening (CFNS), based on double determination of immunoreactive trypsinogen ([IRT] [IRT1/IRT2]), has been available in Andalusia since May 2011. If screening is positive, a sweat test is performed, and if that is positive or inconclusive, genetic testing is requested. OBJECTIVE To analyze CFNS, based on results from the first 4.5 years of the program. MATERIALS AND METHODS Prospective descriptive study of neonates undergoing CFNS. IRT levels, sweat chloride, and mutations were recorded. Statistical analysis was performed using SPSS 12.0. RESULTS Between May 2011 and December 2016, 474,953 neonates underwent CFNS. Of these, 1,087 (0.23%) had elevated IRT2. Since CFNS was introduced, 73 cases of cystic fibrosis were diagnosed; 60 were diagnosed by positive CFNS, and 13 were diagnosed by other means. In one case, the patient developed a typical clinical picture of cystic fibrosis, but had not undergone CFNS at the decision of the parents; the remaining 12 had a negative CFNS (false negatives). Of these, one patient was diagnosed before symptoms developed, as his twin brother had a positive CFNS result; another had chloride at the upper limit of normal, and was subsequently diagnosed with genetic testing before symptoms appeared; and 10 patients developed clinical signs and symptoms. Excluding patients with meconium ileus, sensitivity and specificity of the CFNS program were 85.71% and 99.78%, respectively. The incidence of the disease in Andalusia is 1/6,506 live births. CONCLUSION These results are a basis for reflection on possible areas for improvement of the CFNS algorithm, and thought may be given to the introduction of genetic studies to increase sensitivity and reduce false positives.

ABCA3 Deficiency in a Newborn with Respiratory Failure

Congenital surfactant deficiencies are rare conditions, including mutation in the surfactant protein B (SP-B), surfactant protein C (SP-C) and ABCA3 (ATP-binding cassette member A3) genes. They may present with respiratory failure and pulmonary hypertension (PH) in the newborn. Long-term outcomes are different according to the mutations. We present an infrequent case, diagnosed in a tertiary hospital, who has survived. A term female Arabian infant was born via spontaneous vaginal delivery. Mother and father were consanguineous. Immediately after birth, the infant developed respiratory distress and was initially managed with continuous positive airway pressure. Her physical examination was notable for bilateral coarse breath sounds and generalized thoracic retractions. Chest radiograph demonstrated diffuse bilateral granular opacities. An echocardiogram revealed no evidence of anatomic heart disease with suprasystemic levels of pulmonary artery pressure. Over the next days, her gas exchange worsened, needing intubation and mechanical ventilation. She developed progressive hypoxic respiratory failure that needed high frequency oscillatory ventilation, and nitric oxide administration. The infant was treated with antibiotics but infectious causes for PH were ruled out with negative blood cultures. Chest computer tomography (Fig. 1) at 15 days of life showed bilateral granular opacities and ground-glass opacification; two doses of surfactant were administered without improvement. Bronchoscopic bronchoalveolar lavage detected PAS positive material. With this information, a lung biopsy trough video thoracoscopy was performed. There were marked alveolar epithelial hyperplasia and mild widening of alveolar walls and the suspicion of a genetic disorder of surfactant dysfunction was considered. She still needed mechanical ventilation and take away a treatment with monthly high intravenous doses of methylprednisolone in association with oral daily hydroxychloroquine and every other day azithromycin. Genetic testing showed a nonsense mutation in ABCA3 gene, c.4681C>T or p.R1561X. This mutation was present on both maternal and paternal alleles. At 7 months of age the infant was transferred to a pediatric lung transplant unit where she underwent bilateral lung transplantation at 10 months of age. Currently she is 2 years old needing home mechanical ventilation support because of tracheal and right main bronchus malacia. Interstitial lung diseases (ILD) are a heterogeneous group of pathological processes that affect pulmonary parenchyma and, in most cases, lead to an impairment of gas transfer and reduction of the lung capacity. There are no reliable estimates, but prevalence is likely <1 per 100 000.1

Atelectasia masiva: ¿siempre cuerpo extraño?

Paciente de 3 años, con antecedentes de sibilancias recurrentes, que presenta tos, fiebre y dificultad respiratoria de 4 días de evolución. No refiere episodios de atragantamiento ni sofocación. Destaca hipoventilación de hemitórax izquierdo, sin hipoxemia, ni distrés. En la radiografía de tórax presenta atelectasia completa del pulmón izquierdo, con hiperinsuflación del pulmón contralateral (fig. 1). La analítica sanguínea se encontraba dentro de los rangos de referencia. Se ingresa con el tratamiento de antibioterapia empírica (ampicilina y azitromicina) y terapia nebulizada con beta-2 adrenérgicos y budesonida. A las 48 h, ante la ausencia de mejoría clínico-radiológica se realizó broncoscopia flexible que puso de manifiesto la existencia de material mucoso blanquecino a la entrada de bronquio principal izquierdo, que se aspiró parcialmente. Se completa procedimiento con broncoscopia rígida, y se visualiza molde bronquial a nivel de língula y bronquio superior izquierdos que se extrae con pinzas y aspiración (fig. 2). A las 24 h permanece asintomático, con resolución completa de la atelectasia (fig. 3), por lo que se decide alta a domicilio con tratamiento antiasmático, sin presentar recidivas.Paciente de 3 años, con antecedentes de sibilancias recurrentes, que presenta tos, fiebre y dificultad respiratoria de 4 días de evolución. No refiere episodios de atragantamiento ni sofocación. Destaca hipoventilación de hemitórax izquierdo, sin hipoxemia, ni distrés. En la radiografía de tórax presenta atelectasia completa del pulmón izquierdo, con hiperinsuflación del pulmón contralateral (fig. 1). La analítica sanguínea se encontraba dentro de los rangos de referencia. Se ingresa con el tratamiento de antibioterapia empírica (ampicilina y azitromicina) y terapia nebulizada con beta-2 adrenérgicos y budesonida. A las 48 h, ante la ausencia de mejoría clínico-radiológica se realizó broncoscopia flexible que puso de manifiesto la existencia de material mucoso blanquecino a la entrada de bronquio principal izquierdo, que se aspiró parcialmente. Se completa procedimiento con broncoscopia rígida, y se visualiza molde bronquial a nivel de língula y bronquio superior izquierdos que se extrae con pinzas y aspiración (fig. 2). A las 24 h permanece asintomático, con resolución completa de la atelectasia (fig. 3), por lo que se decide alta a domicilio con tratamiento antiasmático, sin presentar recidivas.