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      Taquipnea persistente como manifestación inicial de hiperplasia de células neuroendocrinas: reporte de un caso clínico Translated title: Persistent tachypnea as initial manifestation of hyperplasia of neuroendocrine cells: case report

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          Abstract

          Resumen Se realiza revisión de la literatura y presentación de un caso clínico de Hiperplasia de Células Neuroendocrinas en paciente lactante masculino que inicia su padecimiento a los 3 meses de vida con dificultad respiratoria caracterizada por retracciones subcostales y taquipnea persistente, posterior-mente a los 8 meses de edad se agrega hipoxemia respirando aire ambiente que requiere uso de oxígeno suplementario continuo. Tiene antecedente de tres hospitalizaciones, con diagnóstico de Bronquiolitis y Neumonía atípica, realizándose panel viral respiratorio con reporte negativo. El paciente persiste con sintomatología respiratoria a pesar de tratamientos médicos, por lo que se deriva a neumología pediátrica, unidad de enfermedad pulmonar intersticial del lactante, iniciando protocolo de estudio, se realiza tomografía tórax de alta resolución, que evidencia imágenes en vidrio despulido en lóbulo medio y región lingular, además de atrapamiento aéreo. Se concluye el diagnóstico de Hiperplasia de Células neuroendocrinas con base a la clínica y hallazgos tomográficos. La Hiperplasia de Células Neuroendocrinas es una patología pulmonar intersticial poco frecuente, cuyo diagnóstico es clínico y radiológico, en la minoría de los casos se requiere biopsia pulmonar para confirmación. Puede ser fácilmente confundida con otras enfermedades respiratorias comunes, por lo que es importante sospecharla para realizar un diagnóstico precoz. La mayor parte de los casos evolucionan con declinación de los síntomas, mejorando espontáneamente en los primeros años de vida.

          Translated abstract

          A review of the literature and presentation of a clinical case of Neuroendocrine Cell Hyperplasia in a male infant patient who begins his condition at 3 months of age with respiratory distress characterized by subcostal retractions and persistent tachypnea is presented. After 8 months of age hypoxemia is added requiring continuous oxygen therapy. He has a history of three hospitalizations, with a diagnosis of bronchiolitis and atypical pneumonia, respiratory viral panel has a negative report. The patient persists with respiratory symptoms despite medical treatments, so it is referred to pediatric pulmonology, initiating study protocol for interstitial lung disease of the infant. A high resolution chest tomography is performed, which evidences images in polished glass in the middle lobe and lingular region, in addition to air entrapment. The diagnosis of neuroendocrine cell hyperplasia is concluded based on clinical and tomographic findings. Neuroendocrine Cell Hyperplasia is a rare interstitial pulmonary pathology, whose diagnosis is clinical and radiological. Lung biopsy is required only in the minority of cases for confirming diagnosis. It can be easily confused with other common respiratory diseases, so it is important to suspect it to make an early diagnosis. Most cases evolve with decline in symptoms, improving spontaneously in the first years of life.

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          Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany

          Background Diffuse parenchymal lung diseases (DPLD) in children represent a rare and heterogeneous group of chronic pulmonary disorders. Despite substantial advances in genetics and pathomechanisms, these often lethal diseases are still under-diagnosed. This is due to the fact that (i) the incidence is low, and (ii) clinical presentation, (iii) disease classification and (iv) specific treatment options are largely unknown. Methods Here we systematically assessed the incidence, the presentation, the diagnostic yield and treatments of pediatric DPLD in Germany, using the Surveillance Unit for Rare Paediatric Disorders (ESPED). Results The incidence of DPLD was 1.32 new cases per 1 million of children per year. The majority of these children were diagnosed within the first year of life. Overall survival was 87%. Using centralized data entry and stratification tools, the patients were categorized into an advanced classification system based on diagnostic algorithms, including clinical presentations, genetics and/or histology. Combining molecular and clinical information, this survey provides an etiological overview and specific diagnostic recommendations for children with DPLD. Conclusions Standardized surveys and systematic classifications are valuable tools for the clinical handling of children with DPLD and aim to improve the disease understanding and the prognosis of these rare detrimental lung diseases.
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            Neuroendocrine Cell Hyperplasia of Infancy. Clinical Score and Comorbidities.

            Rationale: Neuroendocrine cell hyperplasia of infancy (NEHI) is an important form of children's interstitial and diffuse lung disease for which the diagnostic strategy has evolved. The prevalence of comorbidities in NEHI that may influence treatment has not been previously assessed.Objectives: To evaluate a previously unpublished NEHI clinical score for assistance in diagnosis of NEHI and to assess comorbidities in NEHI.Methods: We performed a retrospective chart review of 199 deidentified patients with NEHI from 11 centers. Data were collected in a centralized Research Electronic Data Capture registry and we performed descriptive statistics.Results: The majority of patients with NEHI were male (66%). The sensitivity of the NEHI Clinical Score was 87% (95% confidence interval [CI], 0.82-0.91) for all patients from included centers and 93% (95% CI, 0.86-0.97) for those with complete scores (e.g., no missing data). Findings were similar when we limited the population to the 75 patients diagnosed by lung biopsy (87%; 95% CI, 0.77-0.93). Of those patients evaluated for comorbidities, 51% had gastroesophageal reflux, 35% had aspiration or were at risk for aspiration, and 17% had evidence of immune system abnormalities.Conclusions: The NEHI Clinical Score is a sensitive tool for clinically evaluating NEHI; however, its specificity has not yet been addressed. Clinicians should consider evaluating patients with NEHI for comorbidities, including gastroesophageal reflux, aspiration, and immune system abnormalities, because these can contribute to the child's clinical picture and may influence clinical course and treatment.
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              Incidence and Prevalence of Children's Diffuse Lung Disease in Spain.

              Children's diffuse lung disease, also known as children's Interstitial Lung Diseases (chILD), are a heterogeneous group of rare diseases with relevant morbidity and mortality, which diagnosis and classification are very complex. Epidemiological data are scarce. The aim of this study was to analyse incidence and prevalence of chILD in Spain.
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                Author and article information

                Journal
                rcher
                Revista chilena de enfermedades respiratorias
                Rev. chil. enferm. respir.
                Sociedad Chilena de Enfermedades Respiratorias (Santiago, , Chile )
                0717-7348
                2023
                : 39
                : 1
                : 114-119
                Affiliations
                [1] orgnameUniversidad Nacional Autónoma de México orgdiv1Centro Médico Nacional 20 de Noviembre orgdiv2ISSSTE Mexico
                [2] orgnameCentro Médico Nacional 20 de Noviembre orgdiv1Neumóloga Pediatra orgdiv2ISSSTE México
                Article
                S0717-73482023000100114 S0717-7348(23)03900100114
                10.4067/s0717-73482023000100114
                06b7b347-abbc-47d1-b2e6-c427a1b3f91e

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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                Figures: 0, Tables: 0, Equations: 0, References: 12, Pages: 6
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                SciELO Chile

                Categories
                Casos Clínicos

                Hypoxia,Lactante,Enfermedad pulmonar intersticial,Hiperplasia de células neuroendocrinas,Taquipnea,Hipoxia,Infant,Lung diseases interstitial,Neuroendocrine Cells Hyperplasia,Tachypnea

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