HLA-haploidentical T-cell receptor αßT/B-cell-depleted stem cell transplantation for Fanconi anemia.

HLA-haploidentical stem cell transplantation (haplo-SCT) using post-transplant high-dose cyclophosphamide (PT-CY) is an alternative choice when a suitable donors is unavailable. However, PT-CY is difficult in patients with Fanconi anemia (FA) due to their high vulnerability to alkylating agents. For FA, we prefer haplo-SCT by T-cell receptor αßT-cell and B-cell depletion (αßT/B-depleted haplo-SCT), which can reduce the risks of PT-CY-related complications and graft-versus-host disease (GVHD). An 11-year-old boy with diagnosed FA (FANCG mutation) and bone marrow failure was to receive αßT/B-depleted haplo-SCT from his father (HLA 4/8 allele matched) due to absence of an HLA-matched donors. αßT/B-depleted peripheral blood stem cells (CD34 + cell count, 1.17 × 107/kg; αß + T-cell count, 1.3 × 105/kg) were infused following conditioning consisting of fludarabine (150 mg/m2), cyclophosphamide (40 mg/kg), anti-thymocyte globulin (5 mg/kg), rituximab (375 mg/m2), and thoraco-abdominal irradiation (3 Gy). Tacrolimus was used for GVHD prophylaxis until day + 30. Neutrophil engraftment was achieved on day + 9, and complete chimerism was confirmed on days + 28 and + 96. At 12-month post-SCT, the patient was well without GVHD or any other complications. αßT/B-depleted haplo-SCT is a good choice not only for patients unsuitable for PT-CY, but also for all pediatric recipients to reduce SCT-related complications.

Utility of emergent plain X-ray for childhood acute leukemia with bone pain.

BACKGROUND: We aimed to evaluate the utility of plain X-ray radiograph (PXR) findings in suggesting a diagnosis of acute leukemia in children presenting with bone pain in the emergency department (ED) of a children's hospital. METHODS: Using our radiology reporting system and registered data for childhood acute leukemia, we collected data regarding patients who underwent musculoskeletal PXR examinations in the ED due to bone pain in their extremities, from March 1, 2002 to June 30, 2015. We retrospectively reviewed their PXR findings and clinical information from the electronic medical records. RESULTS: A total of 1,331 patients underwent PXR examinations and in 12 PXR findings showed suspected acute leukemia. From the registered data we found 12 acute leukemia patients who underwent emergency extremity PXR. Ten patients were finally confirmed to have acute leukemia by bone marrow examinations. The most common finding was lucent metaphyseal bands, demonstrated in seven cases, whereas six patients did not show any abnormalities in their peripheral blood cell counts. Sensitivity and specificity values of PXR for acute leukemia diagnosis were 90.0% and 99.8%, respectively. Positive predictive value and negative predictive values were 75.0% and 99.9%, respectively. CONCLUSIONS: Plain X-ray radiograph is a useful diagnostic tool to detect possible acute leukemia in patients presenting with bone pain, earlier than abnormalities of their peripheral blood cell counts. Our results implied the possibility of re-examining PXRs in acute leukemia more carefully, even when there are no abnormalities in blood cell counts.

[Dislodgement of a long-term inserted catheter from the connecting parts of an implantable central venous port in a child with hemophilia].

A central venous access device (CVAD) was implanted in a child with hemophilia for long-term replacement therapy with factor VIII. Four years and eight months after its insertion, malfunction was observed. Further study revealed migration of the transected catheter to both the pulmonary arteries. The retrieved catheter displayed a tear and dislodgement at the anastomosis between the port and catheter. To the best of our knowledge, no case of extensive CVAD damage in children with hemophilia has been reported. Patients with CVAD malfunction are often asymptomatic; however, this condition could lead to a fatal outcome. Therefore, clinicians need to be aware of this complication.

A case of neonatal cytomegalovirus infection with severe thrombocytopenia that was successfully managed with empiric antiviral therapy.

Antiviral therapy against cytomegalovirus (CMV) infection is indicated for symptomatic infection in the fetus and premature neonates. In mature neonates, the benefit of antiviral therapy for severe CMV infection remains controversial. Additionally, when diagnosing symptomatic CMV disease occurring during the early neonatal period, it is difficult to differentiate between congenital and acquired infections. We herein report a neonatal case of CMV infection complicated with severe thrombocytopenia that was successfully managed with antiviral treatment. A 21-day-old male infant presented with low-grade fever and erythema on his extremities. During outpatient follow-up, he developed petechiae and thrombocytopenia (platelet count 17,000/µL). Subsequent serological examination and molecular detection of CMV confirmed the diagnosis of CMV infection. In consideration of the severe thrombocytopenia, antiviral therapy with valganciclovir 32 mg/kg/day was initiated. The platelet counts increased with decreasing CMV loads. After excluding congenital CMV infection, we discontinued antiviral therapy without relapse of the disease. The present case suggests that neonatal cases of severe symptomatic CMV infection may require antiviral therapy while excluding the possibility of congenital infection.

Risk factors of long hospital stay for immunoglobulin A vasculitis: Single-center study.

BACKGROUND: Immunoglobulin A (IgA) vasculitis is a common, systemic childhood disease that occasionally interferes with oral intake of food and necessitates hospitalization. In Japan, there are no reports on the length of hospitalization or factors related to long-term hospitalization in children with IgA vasculitis. In this study, we investigated the factors related to long-term hospitalization. METHODS: We reviewed the medical records of children aged ≤15 years with IgA vasculitis who were admitted to the National Center for Child Health and Development (Tokyo, Japan) between March 2008 and April 2017. We reviewed their gender, age, previous episodes, digestive symptoms, fever, laboratory data, urine analysis, ultrasound, and use of glucocorticoid on admission day. We compared the long-stay (≥10 days) group (L) and the short-stay (≤9 days) group (S) on logistic regression analysis. RESULTS: Of the 68 children included in the analysis, 34 were male, and the average age was 71.9 ± 26.4 months. The median period of hospitalization was 10.5 days (range, 0.5-75 days), and 36 children were allocated to group L. In the logistic regression model including age, gender, gastrointestinal (GI) bleeding, and use of glucocorticoid, male sex (OR: 4.2; 95%CI: 1.3-13.5) and GI bleeding (OR: 7.6; 95%CI: 1.4-41.5) were significantly associated with hospitalization ≥10 days. CONCLUSIONS: In children with IgA vasculitis, male patients and those with GI bleeding were more likely to have a hospital stay ≥10 days.

Primary central nervous system malignant melanoma with leptomeningeal melanomatosis: a case report and review of the literature.

Leptomeningeal melanomatosis is an extremely rare variant of primary central nervous system (CNS) melanoma and has a poor prognosis and no standard treatment. Primary CNS melanoma is derived from the melanocytes of the leptomeninges. Here, we describe a case of a 37-year-old male who visited our hospital due to worsening headaches. Characteristic imaging findings of this tumor type include hyper-dense lesions that are enhanced by contrast medium on computed tomography and hyper-intensity on T1-weighted magnetic resonance images and iso- to hypo-intensity on T2-weighted magnetic resonance images. Imaging of the CNS in our patient showed several lesions of this type. Pathological diagnosis and exclusion of systemic melanoma are required to confirm primary CNS malignant melanoma. Partial resection of the mass in the left temporal lobe of this patient was performed, and histological analysis showed pigmentation, melanin black-45 positivity, and BRAF mutation. Because no lesions were found outside the CNS following a thorough whole-body search, he was diagnosed with primary CNS malignant melanoma with leptomeningeal melanomatosis. He was treated with whole-brain radiation and the BRAF kinase inhibitor vemurafenib. His condition worsened, and he was given the anti-programmed cell death-1 antibody nivolumab as second-line therapy. This was also unsuccessful, and he died 5 months after treatment initiation. Further studies are needed to improve treatment and prognosis of this rare but serious disease.