Cardiomyopathy in a child with hypereosinophilic syndrome

Summary A 9-year-old boy presented with increasing fatigue, anorexia, weight loss, fever, and absolute eosinophilia (48,000/μL). Pulmonary infiltrates occurred 3 months later. A murmur of mitral regurgitation was heard 5 months after onset of illness, and heart failure soon followed. Despite corticosteroid therapy the eosinophilia persisted intermittently until 1 month before death. The patient died within 9 months of the onset of illness. At necropsy there was cardiomegaly with subendocardial fibrosis in the right and left ventricles. Thrombi were present in the left ventricular apex and behind the posterior mitral leaflet. The findings in 12 previously reported pediatric cases are reviewed. The etiopathogenesis of the hypereosinophilic syndrome is discussed: half of the cases in children are associated with leukemia. Supported in part by the Clinical Research Service, Walter Reed Army Medical Center The opinions expressed herein are those of the authors and do not necessarily represent the views of the Department of the Army or the Department of Defense     

The child with neutropenia

Neutropenia is a common finding in children, although often benign in can be sinister and require further evaluation and treatment. The differential diagnosis of paediatric neutropenia ranges from the transient and benign to the life threatening with the most common cause of neutropenia being post infectious (usually post-viral infection). This article outlines the major causes of childhood neutropenia, and explains their investigation and offers practical advice about management.     

1例儿童先天性粒细胞减少症的基因诊断

目的应用基因诊断方法进一步提高对儿童先天性粒细胞减少症(CN)的认识和诊断水平。方法以1例儿童CN患者为研究对象,收集其临床资料、实验室检查结果,按序检测ELA2、GFI1、HAX1及WASp致病基因突变情况。依上述步骤对患儿分别进行疾病的临床及基因诊断并随访。结果参照诊断标准该患儿诊断为无遗传背景的散发性非综合征性CN;基因检测显示其携带已经报道的ELA2基因突变:c.164G>A;此外患儿中性粒细胞表面G-CSFR表达正常,G-CSFR胞内段未发现获得性截短性突变。结论基因突变检测证实1例儿童CN为ELA2基因突变所致,为该患儿未来的分组临床研究及基因治疗提供依据。     

Serratia marcescens lung abscess in a child with autoimmune neutropenia

Though Serratia marcescens is widely known to be the cause of serious infections in immuno-compromised hosts, a lung abscess caused by S. marcescens is very rare. A 5 year old boy who had previously been diagnosed with autoimmune neutropenia was admitted because of fever and cough. In spite of treatment with some antibiotics, he developed a lung abscess. Aspiration of the pleural fluid revealed that S. marcescens was the pathogen of the disease. In the present case, there were feasible risk factors for the development of Serratia lung abscess namely neutropenia, chronic gingivitis at the time, and treatment with cyclosporin A. There are no reported cases of autoimmune neutropenia which developed into a S. marcescens lung abscess in the literature as far as we can determine.     

Severe neutropenia and thrombocytopenia following cardiac transplantation in a child

Hematological complications have been occasionally described after cardiac transplantation. We are reporting a 5-yr-old child who developed sequential severe neutropenia and thrombocytopenia following cardiac transplantation while on tacrolimus-based immune suppression therapy. There was no improvement in blood counts following a change in immune suppression to cyclosporine A. The neutropenia was associated with a maturation arrest in the bone marrow. The occurrence of thrombocytopenia coincided with rising anti-herpes virus 6 IgG titers suggesting a possible contributory role. Neutropenia resolved following treatment with rituximab, and the thrombocytopenia responded to Dapsone therapy eventually. This case points out the potential multifactorial pathogenesis of cytopenias following cardiac transplantation with differing response to various immune suppressive therapies.     

Megakaryocyte emperipolesis in a child with chronic neutropenia: an unusual coexistence

The term emperipolesis defines the temporary presence of one cell within another's cytoplasm. In clinical use, megakaryocyte emperipolesis is the penetration of hematopoietic cells into the cytoplasm of megakaryocytes. The pathophysiological significance of megakaryocyte emperipolesis is uncertain. It has been described in association with neoplastic disorders, and in a few instances in idiopathic thrombocytopenic purpura, iron deficiency anemia, bleeding, and during the administration of recombinant human granulocyte colony-stimulating factor. However, megakaryocyte emperipolesis in a patient with chronic neutropenia has not been reported. In the current report, emperipolesis of hematopoietic cells within megakaryocytes in a boy with chronic neutropenia is described and the possible mechanisms are discussed.     

An ethical conflict between parents and clinician in a child with a language delay

CASE: A developmental-behavioral pediatrician evaluated a 2-year-old child for developmental delays. He determined that the child had mild expressive language delays; the child had an intelligible vocabulary of 20 words and at least 20 other words that he said unclearly. He said a few contracted 2-word phrases, such as "gimme" and "its ok." He was shy and generally clung to his parents who spoke softly and very little. His development in all other domains was normal. Hearing evaluation and the neurological examination were normal. The pediatrician provided suggestions to the parents in order to stimulate language and scheduled a follow-up appointment in 3 months. The parents asked him to refer the child for early intervention and write a letter to the US Immigration and Naturalization Service. They asked that the letter state that the child had a disabling condition and returning the child and his family to their country of origin would cause permanent harm to the child. The parents then gave the pediatrician a draft of a letter that had been prepared by an immigration lawyer.The physician explained to the parents that the child had a mild expressive language delay and that he would like to see the child again in 3 months before deciding on early intervention. He advised them to obtain a copy of his medical note from the medical records department. The parents insisted that he write the letter and got upset and called him "heartless" when the physician refused to write the letter.     

Successful radioiodine treatment in a 3 year old child with Graves' disease following antithyroid medication induced neutropenia

A 3 year old child with Graves' disease and mitral valve prolapse became neutropenic on carbimazole therapy. She was switched to propylthiouracil but the neutropenia recurred. She was treated with radioiodine but required two doses of 113 MBq and then 198 MBq five months later before becoming hypothyroid. The mitral valve prolapse resolved when she was euthyroid on thyroxine replacement. Antithyroid drugs, surgery, and radioiodine all have a place in the management of the thyrotoxic child.