Algunos desafíos en mucopolisacaridosis tipo I / A few challenges in mucopolysaccharidosis type I

Se describen como desafíos actuales en mucopolisacaridosis I la necesidad de una clasificación adecuada, vinculándola a las indicaciones terapéuticas; el diagnóstico temprano desde la pesquisa neonatal, sus ventajas y dificultades hasta la sospecha clínica de las formas grave y atenuada; el cuidado de la patología espinal y oftalmológica, desde el diagnóstico, el seguimiento y el tratamiento; las reacciones alérgicas por terapia de reemplazo enzimático, su diagnóstico y tratamiento. Por último, la transición hacia el cuidado adulto

Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical suspicion of severe and attenuated forms; spinal and eye disease care, from diagnosis to follow-up and treatment; allergic reactions caused by enzyme replacement therapy, their diagnosis and treatment. And lastly, transition to adult care

A few challenges in mucopolysaccharidosis type I. / Algunos desafíos en mucopolisacaridosis tipo I.

Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical suspicion of severe and attenuated forms; spinal and eye disease care, from diagnosis to follow-up and treatment; allergic reactions caused by enzyme replacement therapy, their diagnosis and treatment. And lastly, transition to adult care.

Se describen como desafíos actuales en mucopolisacaridosis I la necesidad de una clasificación adecuada, vinculándola a las indicaciones terapéuticas; el diagnóstico temprano desde la pesquisa neonatal, sus ventajas y dificultades hasta la sospecha clínica de las formas grave y atenuada; el cuidado de la patología espinal y oftalmológica, desde el diagnóstico, el seguimiento y el tratamiento; las reacciones alérgicas por terapia de reemplazo enzimático, su diagnóstico y tratamiento. Por último, la transición hacia el cuidado adulto.

Nuevas recomendaciones para el cuidado de los pacientes con mucopolisacaridosis tipo I / New recommendations for the care of patients with mucopolysaccharidosis type I

Dados los avances sobre mucopolisacaridosis Icon posterioridad al consenso publicado en la Argentina por un grupo de expertos en 2008, se revisan recomendaciones respecto a estudios genéticos, seguimiento cardiológico, cuidado de la vía aérea, alertas sobre aspectos auditivos, de la patología espinal y neurológica. Se hace revisión de la terapéutica actual y se enfatiza en la necesidad de un diagnóstico y tratamiento precoces, así como de un seguimiento interdisciplinario

Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological follow-up, airway care, hearing impairment detection, spinal and neurological conditions, as well as current treatments, were reviewed. Emphasis was placed on the need for early diagnosis and treatment, as well as an interdisciplinary follow-up

New recommendations for the care of patients with mucopolysaccharidosis type I. / Nuevas recomendaciones para el cuidado de los pacientes con mucopolisacaridosis tipo I.

Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological follow-up, airway care, hearing impairment detection, spinal and neurological conditions, as well as current treatments, were reviewed. Emphasis was placed on the need for early diagnosis and treatment, as well as an interdisciplinary follow-up.

Dados los avances sobre mucopolisacaridosis I con posterioridad al consenso publicado en la Argentina por un grupo de expertos en 2008, se revisan recomendaciones respecto a estudios genéticos, seguimiento cardiológico, cuidado de la vía aérea, alertas sobre aspectos auditivos, de la patología espinal y neurológica. Se hace revisión de la terapéutica actual y se enfatiza en la necesidad de un diagnóstico y tratamiento precoces, así como de un seguimiento interdisciplinario.

Anillos vasculares: Serie de 28 pacientes atendidos en un Servicio de Endoscopía Respiratoria Pediátrica / Vascular rings: Series of 28 patients of a Pediatrie Respiratory Endoscopy Department

Los anillos vasculares tienen una incidencia del 1 % entre las enfermedades cardiovasculares congénitas. Constituyen una malformación embriológica en la que el arco aórtico, sus ramas o las arterias pulmonares provocan presión sobre la tráquea y/o el esófago. Anatómicamente, se dividen en dos grupos, dependiendo de cómo rodean la tráquea y el esófago: completo o incompleto. La sintomatología suele iniciarse en los primeros meses de vida con estridor bifásico o espiratorio que aumenta con el llanto y la alimentación, tos traqueal de tonalidad metálica, infecciones respiratorias recurrentes, episodios de apnea refleja y cianosis, sibilancias, hiperextensión cervical, retracción esternal e intercostal, y dificultad en la alimentación. Se realizó un análisis retrospectivo de 28 pacientes con diagnóstico de anillo vascular que concurrieron a la consulta en el Servicio de Endoscopía Respiratoria del Hospital Garrahan entre enero de 2015 y septiembre de 2017.

Vascular rings account for 1 % of the congenital cardiovascular diseases. They constitute an embryological malformation in which the aortic arch, its branches, or the pulmonary arteries cause pressure on the trachea and/or oesophagus. Anatomically, they are divided into two groups -complete or incomplete- depending on how they surround the trachea and/or the oesophagus. Symptom onset is usually in the first months of life with biphasic or expiratory stridor that increases with crying and feeding, a metallic tracheal cough, recurrent respiratory infections, episodes of apnea and cyanosis, wheezing, cervical hyperextension, sternal and intercostal retraction, and feeding difficulties. A retrospective analysis of 28 patients with vascular rings seen at the Department of Respiratory Endoscopy at Garrahan Paediatric Hospital between January 2015 and September 2017 is presented.

[Vascular rings. Series of 28 patients of a Pediatrie Respiratory Endoscopy Department]. / Anillos vasculares. Serie de 28 pacientes atendidos en un Servicio de Endoscopía Respiratoria Pediátrica.

Vascular rings account for 1 % of the congenital cardiovascular diseases. They constitute an embryological malformation in which the aortic arch, its branches, or the pulmonary arteries cause pressure on the trachea and/or oesophagus. Anatomically, they are divided into two groups -complete or incomplete- depending on how they surround the trachea and/or the oesophagus. Symptom onset is usually in the first months of life with biphasic or expiratory stridor that increases with crying and feeding, a metallic tracheal cough, recurrent respiratory infections, episodes of apnea and cyanosis, wheezing, cervical hyperextension, sternal and intercostal retraction, and feeding difficulties. A retrospective analysis of 28 patients with vascular rings seen at the Department of Respiratory Endoscopy at Garrahan Paediatric Hospital between January 2015 and September 2017 is presented.

Los anillos vasculares tienen una incidencia del 1 % entre las enfermedades cardiovasculares congénitas. Constituyen una malformación embriológica en la que el arco aórtico, sus ramas o las arterias pulmonares provocan presión sobre la tráquea y/o el esófago. Anatómicamente, se dividen en dos grupos, dependiendo de cómo rodean la tráquea y el esófago: completo o incompleto. La sintomatología suele iniciarse en los primeros meses de vida con estridor bifásico o espiratorio que aumenta con el llanto y la alimentación, tos traqueal de tonalidad metálica, infecciones respiratorias recurrentes, episodios de apnea refleja y cianosis, sibilancias, hiperextensión cervical, retracción esternal e intercostal, y dificultad en la alimentación. Se realizó un análisis retrospectivo de 28 pacientes con diagnóstico de anillo vascular que concurrieron a la consulta en el Servicio de Endoscopía Respiratoria del Hospital Garrahan entre enero de 2015 y septiembre de 2017.

Paediatric bilateral vocal cord paralysis: our experience. / Parálisis bilateral de cuerdas vocales en pediatría: nuestra experiencia.

Bilateral vocal cord paralysis (BVCP) is the second most common cause of neonatal stridor. The aim of this study was to describe the demographic features, aetiology, comorbidities, and management of our patients with BVCP. MATERIAL AND METHODS: We conducted a retrospective review of the clinical charts of all patients diagnosed with BVCP seen at the Department of Respiratory Endoscopy between 2011 and 2015. RESULTS: 47 patients were included. Mean age at diagnosis was 1 month and male sex predominated (63%). The aetiology was congenital in 59% and acquired in 41% of the infants. The cause was most frequently idiopathic in the former group and secondary to postoperative injury in the latter. Overall, 42 patients (89%) required tracheostomy, without statistically significant differences between the causes. Of all the patients, 39% regained vocal-cord mobility; 44% of those with congenital BVCP, 31% of those with acquired BVCP and 62.5% with idiopathic BVCP. In five patients a laryngotracheoplasty was performed with a posterior costal cartilage graft and one underwent posterior cordectomy. All were decannulated. In one patient vocal-cord lateralization was performed, avoiding tracheostomy. CONCLUSION: BVCP was most commonly of congenital cause and was mainly idiopathic within this group of patients, with a slight male preponderance. A high percentage of patients required tracheostomy. A higher recovery rate of vocal-cord mobility was observed in idiopathic BVCP, which allowed for successful decannulation. In this series, decannulation was possible in all patients that underwent surgery; however, further studies with comparison of techniques and objective assessment of swallowing and phonation are necessary.

Tos e hipoxemia como manifestación clínica de la proteinosis alveolar: Reporte de caso clínico / Cough and hypoxemia as clinical manifestation of pulmonary alveolar proteinosis: Clinical case report

La proteinosis alveolar es una enfermedad pulmonar crónica poco frecuente, especialmente en pediatría, caracterizada por la acumulación anormal de lipoproteínas y derivados del surfactante en el espacio intraalveolar, que genera una grave reducción del intercambio gaseoso. La forma de presentación idiopática constituye más del 90% de los casos relacionados con un fenómeno de autoinmunidad, con producción de anticuerpos dirigidos contra el receptor del factor estimulante de colonias de granulocitos y macrófagos. Se presenta un caso clínico de una niña de 4 años de edad tratada por neumonía atípica con evolución desfavorable por hipoxemia persistente. El diagnóstico se obtuvo a través del estudio anatomopatológico de la biopsia pulmonar por toracotomía. Se llevaron a cabo 17 lavados broncopulmonares mediante endoscopía respiratoria y la paciente evidenció franca mejoría clínica.

Alveolar proteinosis is a rare chronic lung disease, especially in children, characterized by abnormal accumulation of lipoproteins and derived surfactant in the intra-alveolar space that generates a severe reduction of gas exchange. Idiopathic presentation form constitutes over 90% of cases, a phenomenon associated with production of autoimmune antibodies directed at the receptor for granulocyte-macrophage colony-stimulating factor. A case of a girl of 5 years of age treated because of atypical pneumonia with unfavorable evolution due to persistent hypoxemia is presented. The diagnosis is obtained through pathologic examination of lung biopsy by thoracotomy, as treatment is carried out by 17bronchopulmonary bronchoscopy lavages and the patient evidences marked clinical improvement.

[Cough and hypoxemia as clinical manifestation of pulmonary alveolar proteinosis. Clinical case report]. / Tos e hipoxemia como manifestación clínica de la proteinosis alveolar. Reporte de caso clínico.

Alveolar proteinosis is a rare chronic lung disease, especially in children, characterized by abnormal accumulation of lipoproteins and derived surfactant in the intra-alveolar space that generates a severe reduction of gas exchange. Idiopathic presentation form constitutes over 90% of cases, a phenomenon associated with production of autoimmune antibodies directed at the receptor for granulocyte-macrophage colony-stimulating factor. A case of a girl of 5 years of age treated because of atypical pneumonia with unfavorable evolution due to persistent hypoxemia is presented. The diagnosis is obtained through pathologic examination of lung biopsy by thoracotomy, as treatment is carried out by 17bronchopulmonary bronchoscopy lavages and the patient evidences marked clinical improvement.

La proteinosis alveolar es una enfermedad pulmonar crónica poco frecuente, especialmente en pediatría, caracterizada por la acumulación anormal de lipoproteínas y derivados del surfactante en el espacio intraalveolar, que genera una grave reducción del intercambio gaseoso. La forma de presentación idiopática constituye más del 90% de los casos relacionados con un fenómeno de autoinmunidad, con producción de anticuerpos dirigidos contra el receptor del factor estimulante de colonias de granulocitos y macrófagos. Se presenta un caso clínico de una niña de 4 años de edad tratada por neumonía atípica con evolución desfavorable por hipoxemia persistente. El diagnóstico se obtuvo a través del estudio anatomopatológico de la biopsia pulmonar por toracotomía. Se llevaron a cabo 17 lavados broncopulmonares mediante endoscopía respiratoria y la paciente evidenció franca mejoría clínica.

Primary lung tumors in children: 24 years of experience at a referral center.

PURPOSE: Primary lung tumors are rare during childhood and encompass a wide variety of histological types. Each has a different biology and a different therapeutic approach. The aim of this article is to review the experience of a pediatric referral center with this kind of tumors during the last 24 years. METHODS: A retrospective chart review was performed for patients with diagnosis of primary lung tumor between the years 1990-2014. The variables analyzed were age, sex, course of the disease, symptoms, localization, surgery, histology and outcome. RESULTS: Between 1990 and 2014, 38 patients with primary lung tumors were treated at our institution. Age at presentation was 6.6 ± 5.2 years (r 0.91-16.58) and the female:male relationship was 1.37. Inflammatory myofibroblastic lung tumor (n = 13), carcinoid tumor (n = 6) and pleuropulmonary blastoma (n = 6) were the most frequent histological types. Persistent radiographic abnormality was the most frequent presenting sign (34 %). Global mortality was 15.8 % varying according to histology. CONCLUSION: Although the diagnosis of primary lung tumor is rare, the persistence of a radiographic abnormality in spite of adequate treatment for inflammatory processes forces us to evaluate further. The age of the patient is an important factor in the decision of the diagnostic work-up.

[Clinical consensus statement on the care of the child with a tracheostomy]. / Consenso sobre el cuidado del niño con traqueostomía.

The care of the child with a tracheostomy deserves special attention because of the potential devastating airway compromise and because of the need of competent care by caregivers and professionals. The recommendations on tracheostomy care published are few and approaches are inconsistent among different institutions. This clinical consensus statement aims to improve care for children with tracheostomies. A literature search was conducted, reviewed and revised by this group of experts, who concurred with these statements, based on the best evidence available and taking into account the local context.

El cuidado del niño con traqueostomía merece especial atención por el potencial riesgo para la vida que podría ocasionarse con el compromiso súbito de la vía aérea y por la necesidad de contar con cuidadores y profesionales competentes para su cuidado. Los objetivos principales de este consenso son unificar criterios, promover prácticas seguras, fomentar el uso racional de los recursos y contribuir a optimizar la calidad de vida de los niños con traqueostomías y sus familias. Para poder cumplir con estos propósitos, se realizó una búsqueda exhaustiva de la literatura científica; se seleccionó, sobre la base del análisis crítico, la mejor evidencia disponible; y se formularon, por consenso interdisciplinario, una serie de recomendaciones prácticas y adaptables al contexto local.

Complications in children from foreign bodies in the airway.

INTRODUCTION AND OBJECTIVES: Foreign body aspiration in childhood is a common and potentially serious problem. Complications may be the result of the aspiration episode itself, delayed diagnosis or treatment. We describe our experience in a paediatric hospital in Argentina. METHODS: We retrospectively evaluated 56 patients with complications due to foreign body aspiration recorded in the Susy Safe Project between January 2010 and November 2013. The clinical variables analysed were sex, age at time of aspiration, foreign body location and type, time elapsed from the event until object removal, extraction technique, complications, need for hospitalisation and circumstances of the event. RESULTS: 58.9% of the cases described occurred in males, with high presence of adults (76.8%) at the time of aspiration. The incidence was slightly higher in children older than 3 years. In 37 cases (66.1%), the foreign body was located in bronchus; sunflower seeds and ballpoint caps were the most common foreign objects. Only in 10 cases (17.9%) was the object extracted within 24h of the event. The most common complications were pneumonia (18 cases), granuloma (15 cases) and mucosal erosion (9 cases). Hospitalisation was necessary for 41 patients. CONCLUSION: Early diagnosis and immediate control through specialised teams are essential to ensure proper treatment, usually endoscopic, without risk of complications.

Diagnóstico y tratamiento de las estenosis subglóticas en pediatría: experiencia en un hospital de alta complejidad / Diagnosis and treatment of pediatric subglottic stenosis: experience in a tertiary care center

La estenosis subglótica es una de las causas más frecuentes de obstrucción de la vía aérea en pediatría. El 90% son secundarias a la intubación endotraqueal. El diagnóstico se sustenta en la clínica del paciente, la evaluación radiológica, la laringoscopía flexible y la endoscopía rígida de la vía aérea bajo anestesia general. Debe sospecharse en niños con dificultad respiratoria posextubación. La conducta terapéutica dependerá de la gravedad de la estenosis subglótica y de la sintomatología del paciente. Describimos nuestra experiencia en cuanto a las etiologías de las estenosis subglóticas, el diagnóstico, el tratamiento y la evolución de pacientes con esta patología.

Subglottic stenosis is among the most common causes of airway obstruction in children, 90% of which resulting from endotracheal intubation. The diagnosis is based on the patient's clinical, radiologic evaluation, flexible laryngoscopy and rigid airway endoscopy under general anesthesia. It must be suspected in children with respiratory distress after extubation. The therapeutic approach depends on the severity of the subglottic stenosis and the patient's symptoms. We describe our experience with the subglottic stenosis etiologies, diagnosis, treatment and outcome of patients with this condition.

[Diagnosis and treatment of pediatric subglottic stenosis: experience in a tertiary care center]. / Diagnóstico y tratamiento de las estenosis subglóticas en pediatría: experiencia en un hospital de alta complejidad.

Subglottic stenosis is among the most common causes of airway obstruction in children, 90% of which resulting from endotracheal intubation. The diagnosis is based on the patient's clinical, radiologic evaluation, flexible laryngoscopy and rigid airway endoscopy under general anesthesia. It must be suspected in children with respiratory distress after extubation. The therapeutic approach depends on the severity of the subglottic stenosis and the patient's symptoms. We describe our experience with the subglottic stenosis etiologies, diagnosis, treatment and outcome of patients with this condition.

[Severe laryngitis associated to gastroesophageal reflux]. / Laringitis graves asociadas a reflujo gastroesofágico.

There is a strong association between gastroesophageal reflux and pharyngolaryngeal reflux as factors leading to respiratory disease, manifested as dysphonia, wheezing, coughing, recurrent laryngitis, bronchial obstruction, laryngospasm and apparent life-threatening events (ALTEs). These manifestations can be mild or severe and may sometimes put the patient's life at risk. We present two cases of patients with severe laryngitis who required endotracheal intubation, one of which underwent tracheostomy. The diagnostic methods and their limitations and the patients outcomes are described.

Laringitis graves asociadas a reflujo gastroesofágico / Severe laryngitis associated to gastroesophageal reflux

Está demostrado que hay una fuerte asociación entre el reflujo gastroesofágico y el reflujo faringolaríngeo como causantes de enfermedad respiratoria, que puede manifestarse como disfonía, estridor, tos, laringitis recurrente, obstrucción bronquial, laringoespasmo y eventos de aparente amenaza para la vida (ALTE). Estas manifestaciones pueden ser leves o graves y potencialmente mortales. Se presentan los casos de dos pacientes con laringitis grave que requirieron intubación endotraqueal, a uno de los cuales se le realizó una traqueotomía. Se describen los métodos diagnósticos, sus limitaciones y la evolución presentada por los pacientes

There is a strong association between gastroesophageal reflux and pharyngolaryngeal reflux as factors leading to respiratory disease, manifested as dysphonia, wheezing, coughing, recurrent laryngitis, bronchial obstruction, laryngospasm and apparent life-threatening events (ALTEs). These manifestations can be mild or severe and may sometimes put the patient’s life at risk. We present two cases of patients with severe laryngitis who required endotracheal intubation, one of which underwent tracheostomy. The diagnostic methods and their limitations and the patients outcomes are described.

Post-intubation subglottic stenosis in children. Diagnosis, treatment and prevention of moderate and severe stenosis.

INTRODUCTION AND OBJECTIVES: Subglottic stenosis is one of the most common causes of upper airway obstruction. Almost 90% of them result from endotracheal intubation. Therapy depends on the degree of stenosis, among other factors. Therapeutic approaches range from watchful waiting, in mild stenosis, to complex surgery for severe cases. We report our experience on the surgical management of post-intubation subglottic stenosis in children, emphasising the need for recognition and prevention of predisposing factors of post-intubation stenosis. METHODS: We retrospectively evaluated 71 patients with moderate to severe post-intubation subglottic stenosis, operated in the Respiratory Endoscopy Service in a period of eight years. The clinical variables analysed were age at surgery, degree of stenosis, surgical technique, complications and outcome. RESULTS: In 84.5% of patients, only 1 surgical approach was required to achieve decannulation. Three surgical techniques were implemented as therapy: laryngotracheal reconstruction, partial cricotracheal resection and anterior cricoid split. Decannulation was achieved in 70 cases. In 71.8%, ventilation, swallowing and voice qualities were good; 23.9% presented dysphonia; and 2.8% presented a mild respiratory distress. One patient died. CONCLUSION: In patients with subglottic stenosis, selection of the most accurate treatment is the key to success, reducing the number of surgeries and preventing complications.

[Foreign bodies in esophagus in children: case series]. / Cuerpos extraños en el esófago en los niños: Serie de casos.

Ingestion of foreign bodies is an avoidable accident that is seen mainly in children under 3 years-old. Most of them pass through the digestive tract without causing clinical manifestations or complications, but a significant percentage is impacted in the esophagus causing vomiting, sore throat, dysphagia and drooling. The most common foreign bodies are coins. Complications usually occur when there is a delay in diagnosis or with large, sharp or potentially toxic objects, as the button battery. It is essential to make differential diagnosis between coin and button battery, since the latter requires urgent removal due to the earliness of the injury caused. We report 115 cases of foreign bodies in the esophagus, and we alert the pediatrician in recognizing and preventing this problem.