Successful treatment with voriconazole of Aspergillus brain abscess in a boy with medulloblastoma

Invasive aspergillosis is an increasing problem in immuno-incompetent patients after prolonged steroid therapy, cancer radio-chemotherapy, and bone marrow or solid organ transplantation. Cerebral aspergillosis is a well-described complication of the invasive aspergillosis but only in rare cases, the brain is the sole site of infection. Despite increasing availability of antifungal drugs, the prognosis of cerebral aspergillosis is poor. We report on an 11-year-old boy with medulloblastoma in the area of the fourth ventricle. Following tumor surgery and radio-chemotherapy, several abscess-like structures occurred in the operating field. After incomplete abscess, resection histology and culture confirmed a localized Aspergillus fumigatus infection. The initial treatment of the Aspergillus fumigatus infection with conventional amphotericin B failed, and treatment with the triazole voriconazole was started. Intravenous treatment with voriconazole resulted in a reduction of the Aspergillus fumigatus abscess. After switching to oral ambulatory therapy, the Aspergillus fumigatus abscess increased in size. To improve treatment, voriconazole dosage was adapted to reach drug concentrations in cerebrospinal fluid (CSF) above the minimal fungicidal concentration and plasma specimens. During the concentration-controlled voriconazole therapy for a period of 18 months, a complete response was achieved.     

An Adolescent Case of Retroperitoneal Pure Choriocarcinoma: Successful Treatment with MCNU-Containing High-Dose Chemotherapy Followed by Autologous Bone Marrow Transplantation after Multiple Brain Metastases

Choriocarcinoma is a rare disease in pediatric neoplasms. The prognosis of the disease is extremely poor once when patients relapse or become refractory to cisplaiin (CDDP). A 17-year-old male who had retroperitoneal pure choriocarcinoma of advanced stage was treated with CDDP-based intensive chemotherapy. In spite of the initial good response to CDDP-based intensive chemotherapy, the tumor metastasized to multiple areas of the brain during chemotherapy. Since the brain in this case was thought to be a sanctuary, after radiotherapy to the whole cranium, the patient was treated with high-dose chemotherapy consisting of etoposide, carboplatin, and ranimustine (MCNU), which can penetrate the blood-brain barrier, followed by autologous bone marrow transplantation (ABMT). Twenty-four months after ABMT, the patient had no sign of disease recurrence. MCNU-containing high-dose chemotherapy with ABMT appears to be quite effective in cases that present with relapsing multiple brain metastases during CDDP-based chemotherapy.     

Successful treatment of metachronous contralateral intratubular germ cell neoplasia with partial orchiectomy and low‐dose radiation in a patient previously treated for testicular carcinoma

Intratubular germ cell neoplasia (ITGCN) of the testis is a precursor to testicular germ cell tumor (TGCT), which can lead to the development of invasive cancer. In patients with a history of previously treated unilateral TGCT, treatment for ITGCN of the contralateral testis needs to be balanced with the risks of subsequent infertility. Here, we present a 17‐ year‐ old patient with ITGCN diagnosed after treatment of contralateral nonseminomatous TGCT who was successfully treated with a partial orchiectomy followed by low‐dose radiation with preservation of his testosterone production.      

Speech-language and hearing complaints of children and adolescents with brain tumors

Central nervous system (CNS) tumors generally leave sequelae that may compromise speech, language, swallowing, hearing, and voice functions. This report describes the incidence of speech-language and hearing complaints and disorders in children and adolescents with CNS tumor under treatment at one of the most important Brazilian reference center for pediatric cancer. One-hundred ninety patients were examined for speech-pathology screening and analysis: forty-two percent presented with complaints and symptoms. From the remaining patients, 68% presented clinical symptoms and 32% were actually free from any speech-language and hearing-related symptoms. The high incidence of complaints and symptoms indicate that these patients might benefit from specific rehabilitation interventions.     

Advanced small cell carcinoma of the ovary in a seventeen-year-old female, successfully treated with surgery and multi-agent chemotherapy

Advanced small cell carcinoma of the ovary (FIGO stage III or IV) is a rare and usually lethal tumor seen in adolescents and young women. In pediatric patients with advanced disease, there have been only two case reports of successful therapy, we report a third patient, diagnosed at 17 years of age, with an abdominal mass and metastatic disease to regional and distant lymph nodes, who was successfully treated with surgery and intensive multi-agent chemotherapy. Imatinib, thalidomide, and celecoxib were also administered for up to 24 months following initial chemotherapy. She remains in remission 3 years from diagnosis.     

Isochromosome 17q, MYC amplification and large cell/anaplastic phenotype in a case of medullomyoblastoma with extracranial metastases

Medullomyoblastoma (MMB) is a rare variant of medulloblastoma, a member of the family of central nervous system (CNS) embryonal tumors. The outcome of standard therapy for CNS embryonal tumors is often unpredictable in the setting of MMB. Here, we present the clinical course and treatment of an almost 4-year-old girl with MMB that was characterized by MYC amplification, isochromosome 17q and large cell/anaplastic histopathology.     

中枢神经系统感染患儿脑脊液和血清S-100b蛋白及补体C3、C4联合检测的临床意义

中枢神经系统(centralnervous system,C N S)感染至今仍是小儿时期较为常见的感染性疾病之一,常伴有脑损伤的发生。S蛳100b蛋白是神经组织蛋白的一种,以高浓度特异性地存在于C N S和周围神经系统的神经胶质细胞及某些神经元细胞中。国外学者报道CN S感染后脑脊液(C SF)和血清中S蛳100b蛋白水平增高眼1,2演,将其作为一种检测CN S损伤的标志性蛋白进行研究。文献报道,CN S感染患者CSF中补体C3、C4也会有不同程度的升高眼3演。本研究检测CN S感染患儿C SF和血清S蛳100b蛋白及补体C3、C4水平,探讨它们对小儿CN S感染的病情估计及…     

Recurrent hepatosplenomegaly and peripheral blood cytopenia, persistent Epstein-Barr virus infection and central nervous system manifestation in a patient with lymphadenopathy and low serum uric acid

Abstract We describe a 27-month-old boy who was first admitted to our hospital on 7 January 1995 with nasal bleeding. From 6 months of age he has had lymphadenopathy, low levels of serum uric acid, increased levels of serum lactate dehydrogenase and hyper -y-globulinemia. From the age of 18 months he has had persistent Epstein-Barr virus (EBV) infection (target cells; B cells), recurrent episodes of thrombocytopenia, anemia and hepatosplenomegaly. Dysmobility of the left leg and arm from a central nervous system complication during a relapse with pancytopenia on March 1995, was also observed. Relapses of thrombocytopenia with increases of platelet-associated immunoglobulin G and hepatosplenomegaly have been observed approximately every 2 months, and two relapses of pancytopenia were accompanied with weak positivity of Coombs test and low level of haptoglobin. These recurrent episodes were improved with prednisolone. However, now in June 1997 we have not been able to diagnose what underlies the above clinical symptoms, except that the patient has a persistent EBV infection.     

Treatment of Wilms tumor relapsing after initial treatment with vincristine and actinomycin D: a report from the National Wilms Tumor Study Group

PURPOSE: NWTS-5 was a multi-institutional clinical trial for patients less than 16 years of age at diagnosis with specific renal neoplasms who were diagnosed between August 1, 1995 and May 31, 2002. A uniform approach to the treatment of patients with relapse was employed. PATIENTS AND METHODS: Seventy-two patients who relapsed after immediate nephrectomy (stages I and II), initial chemotherapy with vincristine (VCR) and actinomycin D and no radiation therapy were registered on stratum B of the NWTS-5 relapse protocol. Four patients were not evaluable: one due to insufficient data and three due to major protocol violations. Among the 68 remaining patients, one who was 19 years of age at initial diagnosis of Wilms tumor, five with bilateral Wilms tumor at diagnosis, three who developed a contralateral relapse, and one with persistent disease were not included in this analysis. Relapse treatment included surgical excision, when feasible, radiation therapy and alternating courses of VCR, doxorubicin and cyclophosphamide and etoposide and cyclophosphamide. RESULTS: The outcomes of 58 patients were analyzed. The lung was the only site of relapse for 31 patients. Event-free survival 4 years after relapse was 71.1% and 4-year overall survival was 81.8% for all patients and were 67.8 and 81.0% for those who relapsed only to their lungs. The most frequent toxicities were hematological. CONCLUSIONS: These results demonstrate that a significant proportion of children with Wilms tumor who relapse after initial treatment with VCR and actinomycin D can be successfully re-treated.     

Wnt5a及Frizzled-1基因在肛门直肠畸形大鼠直肠发育过程中的表达及义

目的 检测Wnt5a及Frizzled-1(Fzd-1)基因在肛门直肠畸形(anorectal malformations,ARM)胎鼠直肠肠壁的胚胎发育过程中的表达变化,探讨其可能与肠壁神经肌肉发育的关系.方法 将Wistar大鼠随机分为正常组与乙烯硫脲致畸的ARM组,应用免疫组化、Western Blot方法检测正常与ARM组胎鼠直肠末端组织Wnt5a及Fzd-1蛋白的定位及定量表达,RT-PCR方法检测Wnt5a及Fzd-1 mRNA的表达差异.结果 Wnt5a/Fzd-1在正常大鼠胚胎直肠发育过程中,在肠壁肌间神经丛(myenteric nerve plexus,MP)、肠壁平滑肌及黏膜层均有表达,随胚胎发育,表达强度逐渐增强,胚胎晚期主要集中在肠壁平滑肌及MP处;ARM组:越接近直肠末端的肠壁内阳性表达细胞明显减少.western blot及RT-PCR结果显示正常胎鼠直肠末端组织中Wnt5a及Fzd-1总蛋白量及mRNA明显高于畸形组(E21:Wnt5amRNA:0.81±0.14比0.21±0.03;Fzd-1mRNA:0.72±0.11比0.20±0.04;Wnt5a:1.12±0.11比0.48±0.05;Fzd-1:0.91±0.10比0.32±0.04,P<0.05).结论 Wnt5a/Fzd-1基因在肛门直肠畸形的神经肌肉发育过程中表达下调,可能与其发育不良有一定关系.     

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.