Lung biopsies in infants and children in critical care situation.

INTRODUCTION: Lung biopsy is considered as the last step investigation for diagnosing lung diseases; however, its indication must be carefully balanced with its invasiveness. The present study aims to evaluate the diagnostic yield of lung biopsy in critically ill patients hospitalized in the pediatric intensive care unit (ICU). MATERIAL AND METHODS: Children who underwent a lung biopsy in the ICU between 1995 and 2022 were included. Biopsies performed in the operating room and post-mortem biopsies were excluded. RESULTS: Thirty-one patients were included, with a median age of 18 days (2 days to 10.8 years); 21 (67.7%) were newborns. All patients required invasive mechanical ventilation, 26 (89.7%) had a pulmonary hypertension, and 22 (70.9%) were placed under extracorporeal membrane oxygenation (ECMO). The lung biopsy led to a diagnosis in 81% of the patients. The diagnostic reliability seemed to decrease with age (95% in newborns, 71% in 1 month to 2 years and 0/3 patients aged over 2 years old). Diffuse developmental disorders of the lung accounted for 15 (49%) patients, primarily alveolar capillary dysplasia, followed by surfactant disorders in 5 (16%) patients. Complications occurred in 9/31 (29%) patients including eight under ECMO, with massive hemorrhages in seven cases. DISCUSSION AND CONCLUSION: In critical situations, lung biopsy should be performed. Lung biopsy is a reliable diagnostic procedure for neonates in critical situation when a diffuse developmental disorder of the lung is suspected. The majority of lung biopsy complication was associated with the use of ECMO. The prospective evaluation of the complications of such procedure under ECMO, and particularly over 10 days of ECMO and in children over 2-year-old remains to be ascertained.

Pulmonary mucoepidermoid carcinoma in a 7-year-old child.

A 7-year-old boy presented with exertional dyspnea and cough, initially misdiagnosed as asthma. Imaging revealed a mass obstructing the left main bronchus, later identified as a pulmonary mucoepidermoid carcinoma (MEC). Following surgical sleeve resection, complete tumor removal occurred without malignancy in surrounding lymph nodes, resulting in symptom resolution without additional therapy. Pulmonary MEC, uncommon in pediatric patients, poses diagnostic challenges due to nonspecific symptoms, resulting in delayed diagnosis. Typically managed via complete surgical resection, MEC offers a favorable prognosis, primarily affecting central airways and requiring conservative surgical approaches to preserve lung tissue. This case underscores the diagnostic challenges of primary pulmonary MEC in pediatric patients. It stresses the need to consider unusual causes in pediatric respiratory symptoms and highlights the critical role of precise diagnostic methods and personalized surgical strategies in managing such rare pulmonary malignancies for optimal outcomes.

Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.

Acinar dysplasia (AcDys) is one of the three main diffuse developmental disorders of the lung. The transcription factor NK2 homeobox 1 (NKX2.1) partly controls the synthesis of surfactant proteins by type 2 alveolar epithelial cells (AEC2), and germline mutations are known to be associated with brain-lung thyroid syndrome. We report the case of a full-term neonate who developed refractory respiratory failure with pulmonary hypertension requiring venoarterial extracorporeal membrane oxygenation. Histological examination of the lung biopsy specimen was consistent with the diagnosis of AcDys. Molecular analyses led to the identification of the missense heterozygous variant in NKX2.1 (NM_001079668) c.731A>G p.(Tyr244Cys), which is predicted to be pathogenic. After 5 weeks, because AcDys is a fatal disorder and the patient's status worsened, life-sustaining therapies were withdrawn, and she died after a few hours. This study is the first to extend the phenotype of NKX2.1 pathogenic variant, to a fatal form of AcDys.

Pulmonary cystic echinococcosis in a child.

This case report describes the presentation, diagnosis, and treatment of a 13-year-old boy with pulmonary cystic echinococcosis. The patient presented with low-volume hemoptysis, and lung imaging revealed a large cystic mass, as well as smaller pseudo-nodular lesions, suggesting a large intrathoracic hydatid cyst and ruptured cysts. The diagnosis was confirmed by a positive echinococcosis Western Blot assay, despite equivocal serology. The treatment consisted of surgical removal of the large cyst using thoracoscopy, along with a two-week course of albendazole and praziquantel, followed by albendazole alone for two years. Analysis of the cyst membrane revealed an Echinococcus granulosus protoscolex. The patient had a successful recovery.

Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study.

BACKGROUND: Lung involvement in childhood Langerhans cell histiocytosis (LCH) is infrequent and rarely life threatening, but occasionally, severe presentations are observed. METHODS: Among 1482 children (< 15 years) registered in the French LCH registry (1994-2018), 111 (7.4%) had lung involvement. This retrospective study included data for 17 (1.1%) patients that required one or more intensive care unit (ICU) admissions for respiratory failure. RESULTS: The median age was 1.3 years at the first ICU hospitalization. Of the 17 patients, 14 presented with lung involvement at the LCH diagnosis, and 7 patients (41%) had concomitant involvement of risk-organ (hematologic, spleen, or liver). Thirty-five ICU hospitalizations were analysed. Among these, 22 (63%) were secondary to a pneumothorax, 5 (14%) were associated with important cystic lesions without pneumothorax, and 8 (23%) included a diffuse micronodular lung infiltration in the context of multisystem disease. First-line vinblastine-corticosteroid combination therapy was administered to 16 patients; 12 patients required a second-line therapy (cladribine: n = 7; etoposide-aracytine: n = 3; targeted therapy n = 2). A total of 6 children (35%) died (repeated pneumothorax: n = 3; diffuse micronodular lung infiltration in the context of multisystem disease: n = 2; following lung transplantation: n = 1). For survivors, the median follow-up after ICU was 11.2 years. Among these, 9 patients remain asymptomatic despite abnormal chest imaging. CONCLUSIONS: Severe lung involvement is unusual in childhood LCH, but it is associated with high mortality. Treatment guidelines should be improved for this group of patients: viral infection prophylaxis and early administration of a new LCH therapy, such as targeted therapy.

Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome.

NONE: We report the case of a female patient aged 12 years referred to our pediatric sleep unit with a history of central sleep apnea associated with transient episodes of tachypnea on polysomnography recordings. The patient was otherwise healthy, with no personal or family medical history, and had a normal physical and neuropsychological examination. Brain magnetic resonance imaging showed signs of cerebellar vermis dysplasia but without the classical features of the molar tooth sign. The rest of the workup (genetic tests, blood tests, cardiac investigations) was normal except for an increased peripheral chemosensitivity to carbon dioxide and oxygen. The patient was successfully treated with bilevel positive airway pressure. This case report highlights the importance of performing brain magnetic resonance imaging in patients with central sleep apnea to study the cerebellum, beyond the brainstem area. Cerebellar malformations can be found even in the absence of any other neurological condition.

Chest computed tomography findings for a cohort of children with pulmonary Langerhans cell histiocytosis.

OBJECTIVE: This study was undertaken to describe the spectrum of lung computed-tomography (CT) findings in children with pulmonary Langerhans cell histiocytosis (PLCH) and to evaluate for this population the CT-scan nodule and cyst scores proposed by adult pulmonologists at diagnosis and during follow-up. METHODS: Among 175 children with PLCH identified in the French national population-based Langerhans cell histiocytosis cohort, 60 were retrospectively selected by the availability of CT for a central review by three pediatric radiologists. These 60 patients are representative of childhood PLCH for almost all clinical aspects, except a lower percentage of risk organ involvement (38% vs 54%; P = 0.05). RESULTS: The 60 children's chest CT scans (n = 218) were reviewed. At diagnosis, 63% of them had nodules, 53% had cysts, and 29% had both. The percentages of patients with nodules or cysts increased from diagnosis to peak disease activity, respectively, from 63% to 73% and from 53% to 66%. The costophrenic angle was involved in 71%. Patients with pneumothorax (25%) had a higher median cyst score. Alveolar consolidation was observed in 34%. Patients with low CT-scan nodule and cyst scores had no long-term pulmonary sequelae. CONCLUSIONS: Well-known characteristics of adult PLCH (nodules and cysts) were observed in children. The chest CT scores proposed by adult pulmonologists could easily be applied to childhood PLCH. Lesions in children, unlike those in adults, are frequently located near the costophrenic angles. Alveolar consolidation might be considered an atypical feature of childhood PLCH.

Childhood pulmonary Langerhans cell histiocytosis: a comprehensive clinical-histopathological and BRAFV600E mutation study from the French national cohort.

Childhood pulmonary Langerhans cell histiocytosis (PLCH) is a rare disease. Its pulmonary histopathology, according to comprehensive clinical-radiological findings and BRAFV600E mutation status, has not yet been thoroughly documented. From the 167 childhood PLCH cases entered in the French National Histiocytosis Registry (1983-2016), we retrieved lung biopsies from a consecutive retrospective series of 17 patients, diagnosed when they were 2 weeks to 16 years old (median, 9.4 years), and report the clinical and histopathological findings herein. Histological analyses of biopsies (16 surgical and 1 postmortem) found the following features, alone or associated: Langerhans cell (LC) nodules with cavitation (9/17), cysts (14/17), fibrotic scars (2/17), peribronchiolar topographic distribution of the lesions (10/17), and accessory changes, like stretch emphysema (7/17). Those characteristics closely resemble those describing adult PLCH. However, unusual findings observed were 2 large nodules and a diffuse interstitial LC infiltrate. BRAFV600E mutation was detected in 4 of 12 samples tested, notably in the 3 with unusual features. In conclusion, childhood PLCH mostly shares the common histology features already described in adult PLCH, regardless of age. Because smoking is considered the major trigger in PLCH pathogenesis, the findings based on this series suggest other inducers of bronchiolar LC recruitment, especially in very young patients.

Paediatric sarcoidosis.

Paediatric sarcoidosis is an extremely rare disease characterized by a granulomatous inflammation. The estimated incidence is 0.6-1.02/100,000 children, but in the absence of international registers, the disease is probably under-reported. Its pathophysiologic basis is not clearly understood but the current hypothesis is a combination of a genetic predisposition and an environmental exposure that could be either organic or mineral. Contrary to adult forms of the disease, general symptoms are often at the forefront at diagnosis. In its most frequent form, paediatric sarcoidosis is a multi-organ disorder affecting preferentially the lungs, the lymphatic system and the liver, but all organs can be affected. This review aims to provide an overview of current knowledge on sarcoidosis in children, providing a summary of the data available from cohort studies on the presentation, the management and the evolution of the disease in this specific population.

Ultrasonography and Computed Tomographic Manifestations of Abdominal Sarcoidosis in Children.

OBJECTIVES: Sarcoidosis is a multisystem, granulomatous inflammatory disease affecting both pediatric and adult patients. So far in children, very few radiological descriptions of abdominal sarcoidosis manifestations have been reported. The present study describes the frequency and the appearance of abdominal radiologic manifestations in pediatric patients with histologically proven sarcoidosis. METHODS: We reviewed retrospectively all of the radiological examinations of 22 patients ages 1 to 15 years at diagnosis with proven sarcoidosis evaluated in a university pediatric hospital between 1994 and 2014. The locations of biopsies and the angiotensin-converting enzyme level were reported. The size, shape, and parenchymal homogeneity of the liver and spleen, the presence of abdominal lymph nodes, and abnormalities of the gastrointestinal tract were tabulated. RESULTS: The study included 22 children (mean age: 9.9 ±â€Š2.8 years). The liver was the most frequent location of biopsy (12/22), even without radiological involvement. Abdominal manifestations were present in 11 of 22 children with sarcoidosis. Hepatomegaly was the most frequent abnormality, reported in 8 of 11 cases either homogeneous (n = 7) or nodular (n = 1). Homogeneous lymph node enlargement was noted in 6 of 11 cases and splenomegaly in 4 of 11 cases. No calcification was observed. All patients with initial abdominal sarcoidosis had simultaneous thoracic involvement. CONCLUSIONS: Abdominal manifestations in children sarcoidosis are frequent but often nonspecific. Nodular hepatosplenomegaly is rare. All of our patients with abdominal abnormalities had a more specific associated thoracic involvement. Awareness of this association could assist the clinicians in assessing the initial diagnosis of abdominal sarcoidosis in children.

Factors influencing the diagnostic yield and accuracy of image-guided percutaneous needle biopsy of pediatric tumors: single-center audit of a 26-year experience.

BACKGROUND: Image-guided percutaneous core needle biopsy is a common procedure for diagnosis of both solid tumors and hematological malignancies in children. Despite recent improvements, a certain rate of non-diagnostic biopsies persists. OBJECTIVE: To assess the factors influencing the diagnostic yield and accuracy of percutaneous core needle biopsies of pediatric tumors. MATERIALS AND METHODS: We conducted a single-center retrospective study of a 26-year experience with image-guided biopsies in children and young adults. Using uni- and multivariate analysis, we evaluated the association of diagnostic yield and accuracy with technical factors (image-guided procedure, pathological technique) and clinical factors (complication rate, histological type and anatomical location). RESULTS: We retrieved data relating to 396 biopsies were performed in 363 children and young adults (mean age: 7.4 years). Overall, percutaneous core needle biopsy showed a diagnostic yield of 89.4% (95% confidence interval [CI] 85.9-92.2) and an accuracy of 90.9% (CI 87.6-93.6) with a complication rate of 2.5% (CI 1.2-4.6).The diagnostic yield increased with the use of advanced tissue assessment techniques (95.7% with immunohistochemistry versus 82.3% without immunohistochemistry; P < 0.0001) and an increased number of passes (mean: 3.96 for diagnostic biopsies versus 3.62 for non-diagnostic biopsies; P = 0.044). CONCLUSION: The use of advanced pathological techniques and an increased number of passes are the two main factors influencing the diagnostic success of biopsies in pediatric tumors.

Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign.

Metatropic dysplasia is a very rare form of osteochondrodysplasia with only one case of prenatal diagnosis described in the literature. It is characterized by marked shortening of the long bones with severe platyspondyly and dumbbell-shape metaphyses. We report a case of metatropic dysplasia that was diagnosed prenatally and describe the findings on US and CT. The pregnancy was terminated and the post-mortem radiographs are shown. The woman had been referred for short and bowed long bones. Severe metaphyseal enlargement was a misleading finding because it had been misinterpreted as limb bowing. Thus when abnormal curvature of the long bones is observed at prenatal US, attention should be drawn not only to the diaphyses but also to the metaphyses because severe metaphyseal enlargement might be responsible for pseudo-bowing.

HRCT and MRI of the lung in children with cystic fibrosis: comparison of different scoring systems.

BACKGROUND: Chest imaging is essential in the assessment of respiratory disease in cystic fibrosis (CF). High-resolution computed tomography (HRCT) can detect progressive lung disease but involves significant delivered dose of ionizing radiation. Magnetic resonance imaging (MRI) is radiation-free but is rarely used in CF. Based on the limited information on the potential interest of chest MRI in CF pediatric patients, the aims of our study were: 1) to evaluate and compare the reproducibility of HRCT and MRI scores; and 2) to evaluate the agreement between HRCT and MRI scores using both Helbich and Eichinger scores. METHODS: In this prospective study, CF children who were having a HRCT for their routine assessment were proposed to perform a chest MRI the same day. 17 patients were included (median age 12.7 years). Two radiologists scored independently HRCT (Helbich score) and MRI (Helbich and Eichinger scores); and established a consensus score. Concordance was assessed using the Intraclass Correlation Coefficient (ICC); and the inter-observer reproducibility between methods was compared using Fisher's Z test for dependent observations. RESULTS: Concordance between readers was almost perfect for HRCT score (ICC = 96%) and MRI-Eichinger score (84%), and substantial for MRI-Helbich score (68%). Correlation was strong between HRCT and MRI (r = 0.86 and 0.91 for HRCT and respectively MRI-Eichinger and MRI-Helbich scores) and the concordance almost perfect and substantial (ICC = 86% and 78% for HRCT and respectively MRI-Eichinger and MRI-Helbich scores). CONCLUSIONS: We showed that, in CF children, MRI could adequately visualize lung morphologic changes when compared with the "gold-standard" HRCT. Regarding the potential cancer risks from associated ionizing radiation with HRCT, these results lead us to propose larger intervals of time between two lung HRCTs with realization of lung MRI in the meantime.

Italian guidelines for noninvasive imaging assessment of focal liver lesions: development and conclusions.

OBJECTIVES: To develop guidelines for the noninvasive imaging assessment of focal liver lesions comparing different imaging modalities focused on (i) evaluating the imaging techniques in terms of (a) diagnostic accuracy; (b) role in the management of oncologic patients; (c) follow-up of benign lesions; and (ii) developing standard procedure for their use in patients with focal liver lesions that require targeted diagnostic characterization. METHODS: An explicit search strategy was used to conduct a systematic review of the literature in the English language from January 2000 to October 2007; the search covered PubMed, Embase, Pascal, SciSearch, and Cochrane Library databases. A panel of experts evaluated the selected studies and conveyed their view. RESULTS: The online search yielded 4960 titles and abstracts from which 176 studies were considered suitable for the final adherence-to-guidelines topic evaluation. An evidence grading system was not used as the guideline topic and the heterogeneity of the collected data did not fit with the currently used hierarchy of evidence. A panel of experts formulated several recommendations with grade and level which were expressed narratively and nonschematically. CONCLUSION: The recommendations reported in the study are based on an extensive literature evaluation and were developed by considering the appropriateness of the choice of the imaging techniques while noninvasively detecting and characterizing focal liver lesions.