Children with Heiner Syndrome: A Single-Center Experience

Heiner syndrome is a rare cause of pulmonary hemosiderosis in children that is triggered by cow’s milk allergy. Herein, we describe our experience with three recent cases of Heiner syndrome with diverse clinical courses. We recommend that clinicians should consider the possibility of Heiner syndrome in children who exhibit characteristics of idiopathic pulmonary hemosiderosis.

Place of bronchoscopy in the diagnostics and follow-up of patients with idiopathic pulmonary hemosiderosis

The idiopathic pulmonary hemosiderosis is a rare, life-threatening condition observed mainly in children and characterized by recurrent episodes of diffuse alveolar hemorrhages. The disease is characterized by the triad of hemoptysis, alveolar infiltrates in chest radiography, and iron-deficiency anemia. The recurrent episodes of alveolar hemorrhage can lead to chronic iron-deficiency anemia and irreversible pulmonary fibrosis; therefore, early diagnosis and treatment are crucial to the outcome of the disease.The idiopathic pulmonary hemosiderosis is a rare, life-threatening condition observed mainly in children and characterized by recurrent episodes of diffuse alveolar hemorrhages. The disease is characterized by the triad of hemoptysis, alveolar infiltrates in chest radiography, and iron-deficiency anemia. The recurrent episodes of alveolar hemorrhage can lead to chronic iron-deficiency anemia and irreversible pulmonary fibrosis; therefore, early diagnosis and treatment are crucial to the outcome of the disease.

Idiopathic Pulmonary Hemosiderosis: An Unexplored Cause of Treatment Refractory Pediatric Iron Deficiency Anemia

Idiopathic pulmonary hemosiderosis (IPH) is an unusual cause of pediatric iron deficiency anemia (IDA) characterized by alveolar hemorrhage leading to hemosiderin deposition and fibrosis in the lungs. Though the typical triad of presentation is hemoptysis, IDA, and lung opacities on thoracic radiographs, often the sole manifestation of IPH may be severe IDA in children.

Diffuse alveolar hemorrhage in children with trisomy 21

Background Respiratory conditions are the leading cause of hospitalization and death in children with Trisomy 21 (T21). Diffuse alveolar hemorrhage (DAH) occurs at higher frequency in children with T21; yet, it is not widely studied nor is there a standardized approach to diagnosis or management. The objective of this study was to identify children with T21 and DAH in order to understand contributing factors and identify opportunities to improve outcomes. We identified 5 children with T21 at a single institution with histology-proven DAH over 10 years and discuss their presentation, evaluation, management, and outcomes. We also reviewed the cases in the literature. Case presentation Patient 1 died at age seven due to secondary hemophagocytic lymphohistiocytosis. DAH was seen on autopsy. Patient 2 was a three-year-old with systemic-onset juvenile idiopathic arthritis diagnosed with DAH after presenting for hypoxia. Patient 3 was diagnosed with DAH at age nine after presenting with recurrent suspected pneumonia and aspiration. Patient 4 was diagnosed with DAH at age eight after presenting with pallor and fatigue. She had additional ICU admissions for DAH with infections. Patient 5 developed hemoptysis at age three and had recurrent DAH for 10 years. Four patients responded positively to immune-modulation such as intravenous immunoglobulin, glucocorticoids, and rituximab. Of the 19 patients identified in the literature, only one was from the United States. The majority had anemia, respiratory distress, autoantibodies, and recurrences. Very few patients had hemoptysis. Idiopathic pulmonary hemosiderosis was the most common diagnosis. Almost all received glucocorticoids with or without additional immunosuppression. The majority of our patients and those in the literature had positive auto-antibodies such as anti-neutrophil cytoplasmic antibodies and anti-nuclear antigen antibodies. Diagnostic clues included respiratory distress, hypoxia, anemia, recurrent pneumonia, and/or ground glass opacities on imaging. We identified four contributors to DAH: structural lung abnormalities, pulmonary arterial hypertension, infection/aspiration, and autoimmune disease/immune dysregulation. Conclusion These cases demonstrate the need for an increased index of suspicion for DAH in children with T21, particularly given the low frequency of hemoptysis at presentation, enrich the understanding of risk factors, and highlight the favorable response to immunosuppressive therapies in this vulnerable population.

Pulmonary Nocardia infection in a child with idiopathic pulmonary hemosiderosis

Background Idiopathic pulmonary hemosiderosis (IPH) encompasses a rare and agnogenic group of diffuse alveolar capillary hemorrhagic diseases. Corticosteroid treatment is the globally preferred therapeutic strategy for IPH; however, it can cause immunodeficiency. Nocardia infection often occurs in immunocompromised patients and primarily involves the pleura and lungs. Herein, we describe a case of pediatric pulmonary Nocardia infection after the corticosteroid treatment of IPH. Case presentation A 7-year-old girl presented with chief complaints of pale complexion persisting for 1 year and a cough for 20 days. Abundant hemosiderin-laden macrophages were detected in the gastric juice, which supported the diagnosis of IPH. Uninterrupted doses of corticosteroids were administered during the last hospitalization. After nearly 2 months of corticosteroids therapy, the patient began to cough and produce a purulent sputum. Next-generation sequencing of the bronchoalveolar lavage fluid revealed Nocardia abscessus (N. abscessus) DNA. Linezolid was administered with good response, and the patient was discharged after 18 days of hospitalization. Her symptoms and pulmonary lesions had recovered, and the IPH appeared to be well-controlled with low dose of corticosteroids in follow-up. Conclusions Nocardia infection should be considered in the differential diagnoses for IPH patients receiving corticosteroid therapy, especially in patients with poor response to conventional empirical antibiotic therapy. Next-generation sequencing of bronchoalveolar lavage fluid may be used to quickly identify the Nocardia. Sulfonamides or linezolid are effective for pediatric pulmonary Nocardia infection.