El intersticio pulmonar y sus enfermedades en la infancia. Deficiencia de ABCA3. Seguimiento durante doce años. Perspectivas ¿Un nuevo paradigma genético? / The pulmonary interstitium and its diseases in childhood. ABCA3 deficiency. Follow-up for 12 years. Perspectives. A new genetic paradigm?

Introducción. Sobre la base de un caso clínico, se presenta la descripción del cuadro intersticial por deficiencia de ABCA3, de una paciente de catorce años de edad, en seguimiento durante doce años. Método. Evaluación clínica con extensos estudios para descartar otras patologías semejantes. El diagnóstico definitivo fue determinado por el estudio genético para deficiencias de ABCA3 y otros defectos genéticos realizados por el Dr. Larry Nogee, Hospital Johns Hopkins, EE. UU. Objetivos. Describir detalladamente la evolución de la paciente durante doce años, con énfasis en los estudios anteriormente mencionados. Sugerir la presencia de un cambio de paradigma pronóstico en lo que se conocía sobre la evolución de esta enfermedad intersticial pulmonar grave, tratar de mejorar la calidad de vida y posiblemente el pronóstico. Presentar los hallazgos de genética, anatomía patológica y radiología en consultas y evaluaciones por centros de referencia. Resultados. Realizado su diagnóstico de deficiencia genética de ABCA3, presentamos su seguimiento actualizado hasta el año 2020. Esta debe ser sospechada en niños pequeños desde el nacimiento y durante los primeros años ante la persistencia de cuadros pulmonares crónicos con desaturación de oxígeno e imágenes tomográficas que sugieren cuadro intersticial. Se decidió tratar el cuadro en los años 2019-2020, durante seis meses, según bibliografía y consultas con centros de referencia en los Estados Unidos, con la finalidad de determinar la posible mejoría de su patología y decidir la continuación o suspensión de la medicación. Se usaron pulsos con metilprednisolona- hidroxicloroquina y azitromicina. Se logró mantener estable su función pulmonar y mejorar notablemente su calidad de vida. (AU)

Introduction. A clinical case diagnosed with ABCA3 deficiency is described. Patient is now fourteen years old. She´s being followed up since she was two years old. Methodology. clinical follow ­ up with extensive studies to rule out other similar pathologies. Final diagnosis was done through genetic studies done at Johns Hopkins Hospital by Nogee LM. Objective. To present a detailed evolution description of twelve years' follow-up with the support of the aforementioned studies, to suggest a change in diagnostic ­ prognostic paradigm on what was known of mortality in this severe pulmonary interstitial pathology to improve life quality and possibly prognosis. Present the findings of genetics, pathological anatomy and radiology in consultations and evaluations by reference centers. Results. Having made her diagnosis of genetic ABCA3 deficiency, we present her up dated follow-up until 2020. This should be suspected in young children from birth and during the first years due to the persistence of chronic pulmonary symptoms with oxygen desaturation and tomographic images that suggest interstitial symptoms. It was decided to treat the condition in the years 2019-2020, for six months, according to the bibliography and consultations with reference centers in the United States, in order to determine the possible improvement of her pathology and decide to continue or suspend the medication. Pulses with methylprednisolone hydroxychloroquine and azithromycin were used. Her lung function was stable and her quality of life significantly improved. (AU)

Taquipnea persistente en un lactante por hiperplasia de células neuroendocrinas pulmonares / Persistent tachypnea of infancy and pulmonary neuroendocrine cells hyperplasia

Introducción. Sobre la base de un caso clínico se presenta la descripción de un cuadro intersticial pulmonar por hiperplasia de células neuroendocrinas en un lactante. Método. Seguimiento clínico desde el sexto mes hasta los 17 meses con extensos estudios para descartar otras patologías semejantes. El diagnóstico definitivo fue determinado por taquipnea persistente y rales crepitantes con imágenes en vidrio esmerilado características, en lóbulo medio y língula. La biopsia pulmonar fue “normal” a la observación con microscopio óptico a pesar de las imágenes evidentes en TAC. La tinción con bombesina demostró acumulaciones anormales de células neuroendocrinas de 10,9% en bronquiolos e hiperinsuflación (Children’s Hospital of Colorado). Resultados. Se confirmó en este lactante con síntomas de cuadro intersticial la patología pulmonar sospechada: hiperplasia de células neuroendocrinas. Ésta debe ser sospechada en un lactante con: taquipnea, rales crepitantes persistentes, posible desnutrición, radiografía hiperinsuflada, tomografía que muestra imágenes en mosaico tipo vidrio esmerilado especialmente en lóbulo medio y língula. Biopsia pulmonar casi normal y aumento porcentual de células neuroendocrinas en bronquios periféricos.

Introduction. A clinical case of a 6 month old infant with symptoms of interstitial lung disease is presented. Methodology. Follow up until 17 months of age is described. Extensive studies were included to rule out other similar pathologies of infancy. Final diagnosis was determined by characteristic clinical symptomatology of persistent tachypnea and crepitant rales, hyperinflated chest x rays, CT scan presenting ground glass opacities in the middle lobe and lingula. Lung biopsy was nearly normal and bombesin staining showed increased percentage of neuroendocrine bronchial cells (10.9%) (Children’s Hospital of Colorado). Results. NEHI was confirmed in this 6 months old infant. This diagnosis should be suspected in a tachypneic infant, with persistent fine rales, possible undernutrition, chest x-rays hyperinflation and CT scan with ground glass opacities more characteristically in middle lobe and lingula. Lung biopsy is near normal but staining with bombesin shows increased number of neuroendocrine cells and neuroendocrine bodies.

Diagnostic criteria and follow-up in neuroendocrine cell hyperplasia of infancy: a case series / Critérios diagnósticos e seguimento em hiperplasia de células neuroendócrinas do lactente: uma série de casos

OBJECTIVE: Neuroendocrine cell hyperplasia of infancy (NEHI) is a form of childhood interstitial lung disease characterized by tachypnea, retractions, crackles, and hypoxia. The aim of this study was to report and discuss the clinical, imaging, and histopathological findings in a series of NEHI cases at a tertiary pediatric hospital, with an emphasis on diagnostic criteria and clinical outcomes. METHODS: Between 2003 and 2011, 12 full-term infants were diagnosed with NEHI, based on clinical and tomographic findings. Those infants were followed for 1-91 months. Four infants were biopsied, and the histopathological specimens were stained with bombesin antibody. RESULTS: In this case series, symptoms appeared at birth in 6 infants and by 3 months of age in the remaining 6. In all of the cases, NEHI was associated with acute respiratory infection. The most common initial chest HRCT findings were ground-glass opacities that were in the middle lobe/lingula in 12 patients and in other medullary areas in 10. Air trapping was the second most common finding, being observed in 7 patients. Follow-up HRCT scans (performed in 10 patients) revealed normal results in 1 patient and improvement in 9. The biopsy findings were nonspecific, and the staining was positive for bombesin in all samples. Confirmation of NEHI was primarily based on clinical and tomographic findings. Symptoms improved during the follow-up period (mean, 41 months). A clinical cure was achieved in 4 patients. CONCLUSIONS: In this sample of patients, the diagnosis of NEHI was made on the basis of the clinical and tomographic findings, independent of the lung biopsy results. Most of the patients showed clinical improvement and persistent tomographic changes during the follow-up period, regardless of the initial severity of the disease or type of treatment. .

OBJETIVO: A hiperplasia de células neuroendócrinas do lactente (HCNEL) é uma forma de doença pulmonar intersticial da infância caracterizada por taquipneia, retrações, estertores e hipóxia. O objetivo deste estudo foi descrever e discutir os achados clínicos, histopatológicos e de imagem em uma série de casos de HCNEL em um hospital pediátrico terciário, enfatizando critérios de diagnóstico e desfechos clínicos. MÉTODOS: Entre 2003 e 2011, 12 lactentes nascidos a termo foram diagnosticados com HCNEL, com base em critérios clínico-tomográficos e acompanhados por 1-91 meses. Quatro lactentes foram submetidos a biopsia pulmonar, e as amostras histopatológicas foram coradas com anticorpo para bombesina. RESULTADOS: Nesta série de casos, os sintomas surgiram ao nascimento em 6 lactentes e em até 3 meses de idade nos outros 6. Em todos os casos, HCNEL estava associada com infecção respiratória aguda. Os achados iniciais em TCAR de tórax foram opacidades em vidro fosco em lobo médio e língula, em 12 pacientes, e em outras regiões medulares, em 10. O aprisionamento aéreo foi o segundo achado mais frequente, em 7 pacientes. As TCAR de controle (realizadas em 10 pacientes) revelaram resultados normais (em 1) e melhorias (em 9). Os achados de biopsia foram inespecíficos, e os resultados para bombesina foram positivos em todas as amostras. A confirmação de HCNEL baseou-se principalmente em achados clínico-tomográficos. Os sintomas melhoraram durante o seguimento (média, 41 meses). Quatro pacientes apresentaram cura clínica. CONCLUSÕES: Os achados clínicos e tomográficos permitiram o diagnóstico de HCNEL nesta série de pacientes, independentemente dos resultados da biopsia pulmonar. A maioria mostrou melhora clínica e ...