Case Report: Common variable immunodeficiency phenotype and granulomatous-lymphocytic interstitial lung disease with a novel SOCS1 variant.

Common variable immunodeficiency is a heterogeneous symptomatic group of inborn errors of immunity that mainly affects antibodies production and/or function, predisposing patients to recurrent and severe infections. More than half of them usually develop autoimmunity, lymphoproliferation, enteropathy, and malignancies. Among these conditions, chronic lung disease such as granulomatous-lymphocytic interstitial lung disease is one of the leading causes of death in these patients. Recently, many genes that play a key role in B and T cells' development, maintenance, and/or cytokines signaling pathways have been implicated in the pathogenesis of the disease. Here, we describe the first Argentinian patient presenting with common variable immunodeficiency and granulomatous-lymphocytic interstitial lung disease, harboring two in cis heterozygous variants in the SOCS1 gene.

Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.

BACKGROUND: Patients with inherited pulmonary surfactant metabolism disorders have a wide range of clinical outcomes and imaging findings. Response to current anti-inflammatory therapies has been variable and efficacy is unclear. OBJECTIVE: To describe and compare genetic, clinical, histological, and computed tomography (CT) outcomes in a cohort of patients with variants in the genes encoding surfactant protein C (SP-C) or adenosine triphosphate-binding cassette transporter A3 (ABCA3) in Argentina. METHODS: Observational cohort retrospective study. Patients carrying variants in genes encoding SP-C and ABCA3 proteins were included. RESULTS: Fourteen patients met the inclusion criteria: SFTPC n = 6, ABCA3 n = 8 (seven were heterozygous and one compound heterozygous). Neonatal respiratory distress was more frequent and severe in neonates with variants in the ABCA3 gene. The onset of the disease occurred in infancy before the age of 20 months in all cases. Patients with ABCA3 pathogenic variants had a severe clinical course, while long-term outcomes were more favorable in individuals with SFTPC variants. Initial CT findings were ground glass opacities and intraparenchymal cysts in both groups. Over time, signs of lung fibrosis were present in 57% of patients with ABCA3 variants and in 33% of the SFTPC group. The efficacy of anti-inflammatory interventions appears to be poor, especially for patients with ABCA3 pathogenic variants. CONCLUSIONS: Clinical, histological, and radiological features are similar in patients with SFTPC and ABCA3 variants; however, the latter have more severe clinical course. Current anti-inflammatory regimens do not appear to stop the progression of the disease.

Clinical, functional, and computed tomography findings in a cohort of patients with neuroendocrine cell hyperplasia of infancy.

INTRODUCTION: Neuroendocrine cell hyperplasia of infancy (NEHI) is one of the most common interstitial lung diseases in children. Both the etiology and pathophysiological mechanisms of the disease are still unknown. Prognosis is usually favorable; however, there are significant morbidities during the early years of life. OBJECTIVE: To describe the clinical course, infant pulmonary function tests and computed tomography (CT) findings in a cohort of patients with NEHI in Argentina. METHODS: This is a observational multicenter cohort study of children diagnosed with NEHI between 2011 and 2020. RESULTS: Twenty patients participated in this study. The median age of onset of symptoms was 3 months and the median age at diagnosis was 6 months. The most common clinical presentation was tachypnea, retractions and hypoxemia. The chest CT findings showed central ground glass opacities and air trapping. Infant pulmonary function tests revealed an obstructive pattern in 75% of the cases (10/12). Most patients (75%) required home oxygen therapy for 17 months (interquartile range 12-25). In 85% of them, tachypnea and hypoxemia spontaneously resolved between the second and third years of life. CONCLUSION: In this cohort, the first symptoms appeared during the early months of life. The typical clinical, CT, and functional findings allowed the diagnosis without the need of a lung biopsy. Although most patients required home oxygen therapy, they showed a favorable evolution.

Peripheral tuberculous lymphadenitis in pediatrics: 16 years of experience in a tertiary care pediatric hospital of Buenos Aires, Argentina. / Tuberculosis ganglionar periférica en pediatría: 16 años de experiencia en un centro pediátrico de tercer nivel de Buenos Aires, Argentina.

Extrapulmonary tuberculosis accounts for 15-20 % of all clinical presentations of tuberculosis. Peripheral tuberculous lymphadenitis is the second most common presentation of extrapulmonary tuberculosis in children, after pleural tuberculosis, in Argentina. We analyzed 92 patients with peripheral tuberculous lymphadenitis seen at the Department of Tisiology of Hospital de Niños "Dr. Ricardo Gutiérrez" between August 2000 and September 2015. The patients' mean age was 8.7 ± 5 years. Nodal sites corresponded to single peripheral (31.5 %), multiple peripheral (20.6 %), and peripheral associated with deep nodes (47.8 %). Cervical lymph nodes were the most common site of involvement (80 %). In 80 % of patients previous antibiotic therapy had been administered, without response. The tuberculosis source was known in 56 %; 69 % had a positive tuberculin skin test; and 54 %, a pathological chest X-ray. Tuberculosis treatment was started on all patients based on clinical criteria, exposure and/or positive tuberculin skin test, prior to microbiological or histological confirmation. The clinical course was either healing (81.5 %), referral to a facility near home (8.7 %) or dropout (8.7 %). One patient died.

La tuberculosis extrapulmonar representa el 1520 % de todas las formas de presentación. La tuberculosis ganglionar periférica es la segunda forma extrapulmonar más frecuente en niños de Argentina, luego de la pleural. En el Servicio de Tisiología del Hospital de Niños "Dr. Ricardo Gutiérrez", se analizaron en forma retrospectiva 92 casos de tuberculosis ganglionar periférica asistidos entre agosto, 2000-septiembre, 2015. La edad media fue 8,7 ± 5 años. Las adenopatías fueron periféricas únicas (31,5 %), periféricas múltiples (20,6 %) y periféricas asociadas a profundas (47,8 %). Predominó la localización cervical (80 %). El 80 % recibió antibioticoterapia previa, sin respuesta. El 56 % tenía foco de contagio conocido; 69 %, prueba cutánea de tuberculina positiva y 54 %, radiografía de tórax patológica. Todos iniciaron tratamiento antifímico por clínica compatible, exposición y/o prueba cutánea de tuberculina positiva, antes de la confirmación microbiológica o histológica. La evolución fue curación (81,5 %), derivación cercana al domicilio (8,7 %), abandono (8,7 %). Un paciente falleció.

Taquipnea persistente de la infancia: hiperplasia de células neuroendocrinas, una revisión / Persistent tachypnea of infancy: neuroendocrine cell hyperplasia, a review

La hiperplasia de células neuroendocrinas de la infancia (HCNEI) constituye una de las enfermedades intersticiales más frecuentes en pediatría. Tanto su etiología como los mecanismos fisiopatológicos involucrados son inciertos. Suele presentarse en pacientes por lo demás sanos, durante los primeros meses de vida con taquipnea, retracciones costales, rales e hipoxemia. En la tomografía axial computada de tórax de alta resolución (TACAR) presenta imágenes características en vidrio esmerilado de distribución central y zonas de atrapamiento aéreo. Para el diagnóstico, además de la clínica y la TACAR, podemos recurrir a la biopsia en casos atípicos. Los hallazgos histológicos reflejan una arquitectura pulmonar normal y un aumento en el número de células neuroendocrinas. El manejo global es con medidas de sostén, ya que no se cuenta con un tratamiento específico. La sintomatología suele mejorar con la edad y el pronóstico es favorable.

Neuroendocrine cell hyperplasia of infancy (NEHI) is one of the most common interstitial lung diseases of childhood. The etiology and pathophysiological mechanisms involved are uncertain. It usually presents in otherwise healthy patients during the first months of life with tachypnea, rib retractions, crackles, and hypoxemia. High-resolution chest computed tomography (HRCT) shows ground-glass opacities of central distribution and areas of air trapping. For diagnosis purposes, in addition to clinical and HRCT features, a lung biopsy is indicated for atypical cases. Histological findings reflect normal architecture and an increased number of neuroendocrine cells. The management consists of supportive and preventive care, since there is no specific treatment. Symptoms usually improve with age and the prognosis is favorable.

[Pleuropulmonary blastoma, case report]. / Blastoma pleuropulmonar. Caso clínico.

Pleuropulmonary blastoma is a rare lung tumor of childhood that can occur with cystic or solid lesions, as a radiological finding with or without respiratory symptoms. We report the case of a 2 year old toddler in his first pulmonary obstructive episode with suspected toracic malformation of the left upper lobe in his chest x-ray and tomography. Surgery was performed showing cystic malformation of the left upper lobe. We received the pathology report with diagnosis of type I pleuropulmonary blastoma. He began follow-up with Oncology initiating treatment with cyclophosphamide and vincristine, well tolerated. Currently, there is controversy about the management of congenital lung cysts, tilting the balance towards the surgical procedure because of serious difficulties in differentiating benign pulmonary cysts from pleuropulmonary blastoma without histopathologic review.

El blastoma pleuropulmonar es un tumor pulmonar raro de la infancia, que puede manifestarse con lesiones quísticas o sólidas, como un hallazgo radiológico o con clínica respiratoria. Presentamos el caso de un niño de 2 años de edad que consultó en su primer cuadro obstructivo con imagen sospechosa de malformación pulmonar en el lóbulo superior izquierdo en la radiografía y la tomografía de tórax. Se realizó cirugía, que evidenció una malformación quistica en el segmento ápico posterior del lóbulo superior izquierdo. Recibimos el informe de anatomía patológica con diagnóstico de blastoma pleuropulmonar tipo I. Comenzó el seguimiento por Oncología e inició el tratamiento con ciclofosfamida y vincristina, con buena tolerancia.

Tuberculosis ganglionar periférica en pediatría: 16 años de experiencia en un centro pediátrico de tercer nivel de Buenos Aires, Argentina / Peripheral tuberculous lymphadenitis in pediatrics: 16 years of experience in a tertiary care pediatric hospital of Buenos Aires, Argentina

La tuberculosis extrapulmonar representa el 1520 % de todas las formas de presentación. La tuberculosis ganglionar periférica es la segunda forma extrapulmonar más frecuente en niños de Argentina, luego de la pleural. En el Servicio de Tisiología del Hospital de Niños "Dr. Ricardo Gutiérrez", se analizaron en forma retrospectiva 92 casos de tuberculosis ganglionar periférica asistidos entre agosto, 2000-septiembre, 2015. La edad media fue 8,7 ± 5 años. Las adenopatías fueron periféricas únicas (31,5 %), periféricas múltiples (20,6 %) y periféricas asociadas a profundas (47,8 %). Predominó la localización cervical (80 %). El 80 % recibió antibioticoterapia previa, sin respuesta. El 56 % tenía foco de contagio conocido; 69 %, prueba cutánea de tuberculina positiva y 54 %, radiografía de tórax patológica. Todos iniciaron tratamiento antifímico por clínica compatible, exposición y/o prueba cutánea de tuberculina positiva, antes de la confirmación microbiológica o histológica. La evolución fue curación (81,5 %), derivación cercana al domicilio (8,7 %), abandono (8,7 %). Un paciente falleció.

Extrapulmonary tuberculosis accounts for 15-20 % of all clinical presentations of tuberculosis. Peripheral tuberculous lymphadenitis is the second most common presentation of extrapulmonary tuberculosis in children, after pleural tuberculosis, in Argentina. We analyzed 92 patients with peripheral tuberculous lymphadenitis seen at the Department of Tisiology of Hospital de Niños "Dr. Ricardo Gutiérrez" between August 2000 and September 2015. The patients' mean age was 8.7 ± 5 years. Nodal sites corresponded to single peripheral (31.5 %), multiple peripheral (20.6 %), and peripheral associated with deep nodes (47.8 %). Cervical lymph nodes were the most common site of involvement (80 %). In 80 % of patients previous antibiotic therapy had been administered, without response. The tuberculosis source was known in 56 %; 69 % had a positive tuberculin skin test; and 54 %, a pathological chest X-ray. Tuberculosis treatment was started on all patients based on clinical criteria, exposure and/or positive tuberculin skin test, prior to microbiological or histological confirmation. The clinical course was either healing (81.5 %), referral to a facility near home (8.7 %) or dropout (8.7 %). One patient died.

Blastoma pleuropulmonar: caso clínico / Pleuropulmonary blastoma: case report

El blastoma pleuropulmonar es un tumor pulmonar raro de la infancia, que puede manifestarse con lesiones quísticas o sólidas, como un hallazgo radiológico o con clínica respiratoria. Presentamos el caso de un niño de 2 años de edad que consultó en su primer cuadro obstructivo con imagen sospechosa de malformación pulmonar en el lóbulo superior izquierdo en la radiografía y la tomografía de tórax. Se realizó cirugía, que evidenció una malformación quistica en el segmento ápico posterior del lóbulo superior izquierdo. Recibimos el informe de anatomía patológica con diagnóstico de blastoma pleuropulmonar tipo I. Comenzó el seguimiento por Oncología e inició el tratamiento con ciclofosfamida y vincristina, con buena tolerancia.

Pleuropulmonary blastoma is a rare lung tumor of childhood that can occur with cystic or solid lesions, as a radiological finding with or without respiratory symptoms. We report the case of a 2 year old toddler in his first pulmonary obstructive episode with suspected toracic malformation of the left upper lobe in his chest x-ray and tomography. Surgery was performed showing cystic malformation of the left upper lobe. We received the pathology report with diagnosis of type I pleuropulmonary blastoma. He began follow-up with Oncology initiating treatment with cyclophosphamide and vincristine, well tolerated.