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。     

Cardiomyopathy in a child with neutropenia and motor delay

A 17-month boy with history of neutropenia and gross motor regression was found to have cardiomyopathy upon admission. He was diagnosed with Barth syndrome: dilated cardiomyopathy, neutropenia, skeletal myopathy, decreased stature, and 3-methylglutaconic aciduria, confirmed by tafazzin gene deletion. This diagnosis should be considered in boys with unexplained neutropenia.     

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.     

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.     

Infections in patients with neutropenia.

We review published reports and our experience in regard to the causative organisms of infections in patients with neutropenia. The organisms isolated from infected patients were almost exclusively pyogenic and enteric bacteria, and our patients had no history of serious viral or fungal infections, documenting the importance of the neutrophil in normal host defense against extracellular but not intracellular pathogens. Staphylococcus aureus was the single most commonly cultured organism; however, Pseudomonas and Escherichia coli were almost as commonly isolated. Positive cultures were obtained primarily from the blood or cutaneous, subcutaneous, or deep tissue abscesses. In patients with congenital neutropenia, pneumonia, otitis media, and abscesses were the most frequent infections diagnosed clinically. There is a suggestion that recent antibiotic therapy shifted the spectrum of infecting organisms toward enteric bacteria.     

T cell lymphocytosis with neutropenia.

A gross T cell lymphocytosis developed in an otherwise healthy 5 year old girl and has persisted for nearly 3 years. It is associated with neutropenia and seems to be typical of a rare adult disorder that may be a type of T cell chronic lymphocytic leukaemia.     

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.     

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.     

Recurrent epididymo-orchitis in an 8-year-old child with Kostmann syndrome (severe congenital neutropenia)

Underlying congenital genito-urinary tract anomalies are the most common cause of recurrent epididymo-orchitis in prepubertal boys. An 8-year-old boy was admitted with recurrent pulmonary and skin infections, was diagnosed as Kostmann syndrome and developed epididymo-orchitis. This appears to be the first case of Kostmann syndrome associated with epididymo-orchitis.     

Chronic idiopathic neutropenia associated with gingival enlargement.

A girl with chronic idiopathic neutropenia who developed gingival enlargement at seven years of age is presented. Intraoral examination revealed generalized gingival inflammation with a tendency to bleeding and inflammatory gingival enlargement localized to the anterior region. A considerable amount of bacterial plaque was noted on the teeth. There were also 4-5 mm pocket depths around the first molars. Radiographic examination also indicated the presence of incipient bone loss around the first molars in both jaws. The patient, who was diagnosed as localized prepubertal periodontitis with generalized gingival inflammation and anterior gingival enlargement, accentuates the importance of evaluation of periodontal status in patients with chronic idiopathic neutropenia, to avoid the destruction of supporting structures of the dentition.     

The limping child.

A child who limps often presents a diagnostic challenge. The differential diagnosis is extensive. Although the most common cause is trauma, awareness of other potential causes is important. The age of the child and the pattern of the gait help narrow the differential diagnosis. In most cases, a diagnosis can be made from the history and physical examination. If the diagnosis is not obvious after a careful clinical evaluation, plain radiographs provide an excellent means of screening for fracture, joint effusion, lytic lesions, periosteal reaction, and avascular necrosis. Other tests should only be ordered when indicated.