Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus.

OBJECTIVE: To evaluate the effectiveness and safety of sirolimus therapy in a child with macroglossia due to lymphatic malformation. METHODS: Sirolimus treatment was applied to the patient with an initial dosing of 0.8 mg/m2 per dose, administered orally, twice daily at approximately 12-hour intervals. RESULTS: After 9 months of sirolimus therapy, there was a nearly complete resolution of lymphatic malformation. The last evaluation was performed 6 months after withdrawal of treatment, and the lesion had almost completely resolved. CONCLUSION: This article presents a novel approach to the treatment of lymphatic malformation of the tongue using sirolimus, which appears to be safe and effective for the management of complex cases.

Bilateral Native Kidney Papillary Renal Cell Carcinomas in a 11-Year-Old Renal Transplant Patient.

Renal cell carcinomas (RCCs) are the most common renal tumors in adults and are usually sporadic and unilateral. Renal transplant recipients have an increased risk of developing RCC. RCC development after kidney transplantation is very rarely reported in children. We present a 11-year-old boy who had cadaveric kidney transplantation for kidney failure 2 years ago. He was under immunosuppressive therapy and presented with microscopic hematuria. An ultrasound (US) revealed bilateral solid renal masses. Further cross-sectional imaging showed a 60 × 70 × 60-mm right renal mass with claw sign and a 5 × 6 × 6-mm mass in the left renal lower pole. A bilateral radical nephroureterectomy of native kidneys was performed. The pathology revealed bilateral papillary RCC without TFE3 upregulation. The patient was kept on low-dose immunosuppressive therapy in the perioperative period. He received no chemotherapy but a close radiological surveillance was undertaken. He is tumor-free 2 years after the operation. RCC is a rare tumor for children and bilateralism is even rarer. The child had a history of chronic kidney disease, peritoneal dialysis, and immunosuppressive therapy. As there are no standardized protocols regarding imaging in transplanted kidneys routine surveillance, US follow-up should also focus on detecting malignancy.

Chickenpox complications, incidence and financial burden in previously healthy children and those with an underlying disease in Ankara in the pre-vaccination period.

The aim of this study was to determine the complications, financial burden and mortality caused by chickenpox using the data of Ankara, Turkey in the pre-vaccination period. The study was conducted as a retrospective sectional study. Of the 65 patients admitted to our hospital, 34 (52.3%) had been previously healthy, 10 (15.4%) had previous chronic disease and 21 (32.3%) were immunocompromised. The most common complications of chickenpox in those patient groups were skin and soft tissue infections (41.2%), hematological complications (50%) and gastrointestinal complications (38.1%), respectively. We found 10.6/100,000 and 8.7/100,000 rates of hospitalization due to chickenpox in Ankara for all children and for previously healthy children, respectively. The chickenpox-related mortality rate for the 0-17 age group was 3.03/1,000,000 in Ankara. In conclusion, we feel that a national vaccination program for chickenpox will lead to a significant decrease in the overall cost to our country.

Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients?

The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and cardiovascular disease. Neurofibromatoses (NF) are autosomal dominant inherited diseases that can affect tissues such as bone and skin and predispose individuals to tumor development in various parts of the nervous system or body. Optic nerve glioma and brain tumors are common in children with NF, and leukemia and lymphoma incidence is also higher than normal. We therefore aimed to investigate the possible relationship between the MTHFR gene polymorphism and accompanying tumors such as neurofibroma, hamartoma, and optic glioma in children with NF1 found to have the MTHFR 677 and MTHFR 1298 gene polymorphism in this study. We included 55 pediatric patients diagnosed with NF1 between 2005 and 2014 in the study group. The control group included 44 healthy subjects without acute or chronic disease findings. A significant relationship was found between the MTHFR A1298C polymorphism and the incidence of optic glioma (p=0.014) (AA vs. AC: OR 11, 95% CI 1.27-95.17; AA vs. CC: OR 7.33, 95% CI 0.35-150.70). We also found a significant relationship between the MTHFR C1298C polymorphism and the incidence of hamartoma (p=0.019) (AA vs. AC: OR 2.12, 95% CI 0.662-6.809; p=0.203). Epilepsy incidence was high in subjects with MTHFR C677C. The MTHFR A1298C, C1298C, and C677C gene polymorphisms can be associated with a higher optic glioma, hamartoma, and epilepsy incidence, respectively, in patients diagnosed with neurofibromatosis type 1.

Two Case Presentations Infected by Trichosporon asahii and Treated with Voriconazole Successfully.

Background. Trichosporon asahii is an opportunistic fungus that causes infections in immunosuppressed patients. Neutropenia developing due to malignancies is an important risk factor for fungal infection. Case Report. We present two pediatric oncology cases successfully treated with voriconazole after T. asahii infection that is known to cause fatal sepsis and invasive fungal infection. Conclusion. There is no conclusive evidence that the antifungal agent voriconazole is effective in the neutropenic patients infected with Trichosporon asahii. Liposomal amphotericin B has also been reported to be inadequate for treatment. We believe that our patients were successfully treated and survived because the antifungal agents were started early and properly, although the infection can be fatal in up to 80% of cases despite treatment.