Bone densitometry measurements in children with neurofibromatosis Type 1 using quantitative computed tomography.

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disease characterised by multisystemic involvement, including bone tissue. Deformities and reduced bone mass are the main bone manifestations in NF1. Quantitative computed tomography (QCT) provides true volumetric bone mineral density (BMD) measurement. This study aimed to evaluate bone metabolism parameters and BMD in children with NF1 using QCT. Methods: The data of 52 paediatric NF1 patients (23 female, 29 male) was evaluated retrospectively. We investigated anthropometric measurements, biochemical parameters like total calcium, phosphate, magnesium, alkaline phosphatase, 25-hydroxyvitamin D (25OHD), parathyroid hormone, calcitonin, urinary calcium/creatinine ratio, and QCT parameters like lumbar trabecular and cortical BMD, trabecular area and cortical thickness. Comparisons of gender and puberty status were performed. Results: 25% of patients had skeletal deformities and 42.3% had 25OHD inadequacy (<20 ng/mL). The frequency of 25OHD inadequacy was significantly higher in pubertal/postpubertal patients than prepubertal patients (61.9% vs. 29.0%, P = 0.019). Trabecular BMD Z-score was <-2.0 in 11.5% of patients; all with low BMD were at the pubertal/postpubertal stage. There was a significant negative correlation between age and trabecular Z-score (r = -0.41, P = 0.003). Mean cortical BMD was statistically similar between the genders and puberty groups. Puberty status, anthropometric Z-scores, and biochemical and QCT parameters were statistically similar between the genders (P > 0.05). Conclusion: Paediatric NF1 patients may present with low BMD and 25OHD inadequacy, especially at puberty. QCT may be a useful tool to evaluate trabecular and cortical bone separately in NF1 patients.

Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey.

AIM: The aim of this study is to determine the mutation spectrums and clinical characteristics of NF1 patients followed up in our center and to investigate whether there is a genotype-phenotype relationship. MATERIAL AND METHODS: Sixty-three children and 34 relatives diagnosed with NF1 were included in the study. Age, gender, family history, clinical features, tumors detected in the patient at the time of diagnosis or during follow-up, orbital and cerebral magnetic resonance imaging (MRI) findings were recorded. Also results of the NF1 gene analysis results were recorded. RESULTS: Fifty-three different mutations were found as a result of the NF1 gene analysis studied from patients and their family members. Among these 53 mutations, stop codon mutation was the most frequently detected mutations. Sixteen out of 50 (32%) mutations were found to be novel mutations. Twenty-eight tumors developed in our patients. Twenty of them were optic gliomas and others were medullary thyroid carcinoma, glioblastome multiforme, pons glioma, acute lymphoblastic leukemia, pilocytic astrositoma, hypothalamic glioma, cerebral hamartoma and cardiac fibroma. No genotype-phenotype relationship was detected in patients Conclusion: Comprehensive mutation analysis of NF1 will increase our knowledge due to its different phenotypic characteristics even in the same mutation.

Temporal bone hemangioendothelioma as a rare vascular tumor in childhood: case report and review of the literature.

BACKGROUND: Hemangiondothelioma is a rare vascular tumor that can occur in the bone. Temporal bone involvement has been reported extremely rare in the literature. CASE: Radiological examination of a one-year-old girl who was admitted due to facial paralysis revealed vascular tumor of the temporal bone and Galen vein aneurysm. Pathological examination showed retiform hemangioendothelioma. She was treated with propranolol, prednisolone, vincristine, and endovascular embolization followed by oral sirolimus. With sirolimus treatment, a partial response was obtained first, then the tumor remained stable and sirolimus treatment was discontinued. No progression was observed in the disease after discontinuation of treatment. CONCLUSION: In this article, a case of hemangioendothelioma originating from the temporal bone is discussed in the light of other case reports in the literature.

Bone marrow involvement in pediatric malignancies: a comparison study of Positron emission tomographycomputed tomography and bone marrow biopsy.

BACKGROUND AND OBJECTIVES: The comparison of Positron emission tomography- computed tomography (PETCT) and bone marrow biopsy (BMB) modalities in detecting bone marrow disease is an up to date research topic. In this study, we aimed to compare the results of PET-CT and BMB procedures in detecting bone marrow involvement in pediatric malignancies. METHOD: At the time of diagnosis, PET-CT imaging and BMB performed patients` data were evaluated, retrospectively. Malign diagnoses were Hodgkin's lymphoma in 23 (30.7%), non-Hodgkin's lymphoma in 20 (26.7%), neuroblastoma in 11 (14.7%), Ewing sarcoma in 10 (13.7%), Langerhans cell histiocytosis in 6 (8%), and rhabdomyosarcoma in 5 (6.6%) patients. RESULTS: Bone marrow involvement was detected in 39 (52%) of 75 patients. Bone marrow involvement was identified by both PET-CT and BMB in 18 (46.1%) patients, by only PET-CT in 12 (30.7%) patients, by only BMB in 9 (23%) patients. The sensitivity of PET-CT was 66%, specificity was 75%, positive predictive value was 60%, and negative predictive value was 80%. Sensitivity, spesificity, positive and negative predictive values of PETCT were different in before mentioned malignancy groups. CONCLUSION: PET-CT may not have high sensitivity and specificity to identify bone marrow involvement for each type of cancer. The approach of using bone marrow biopsy and PET-CT as complementary modalities seems reliable.

Effective High-dose Interferon-α Therapy in a 13-Year-Old Girl With Erdheim-Chester Disease.

Erdheim-Chester disease (ECD) is a proliferative disorder of non-Langerhans histiocytes with a higher incidence in the fifth to seventh decades and rarer occurrence in the pediatric population. Although ECD typically involves bone, it can also affect the central nervous system, cardiovascular system, retro-orbital space, retroperitoneal space, and kidneys, lungs, and skin. A 13-year-old Syrian girl who presented with multisystemic involvement was diagnosed with ECD. The B-Raf proto-oncogene V600E mutation was not detected in ECD lesions. Response to the high-dose interferon-α therapy was excellent in this pediatric patient. In this article, pediatric ECD case reports are also reviewed.

Mucoepidermoid Carcinoma in Warthin Tumor of the Parotis in Childhood: A Case Report and Review of the Literature.

Mucoepidermoid carcinoma arising in Warthin tumor of the parotid gland is an extremely rare entity. This is so far described only in the adult age group, and only one patient has been reported in the pediatric age group until today. Herein, we describe our patient and review the literature. This was a case of a 9-year-old girl admitted with a painless swelling in the left side of her face for at least 2 weeks. Histopathologic examination of total parotidectomy specimens revealed mucoepidermoid carcinoma arising in the Warthin tumor. This case is the youngest patient reported to date.

Evaluation of renal tumors in children.

OBJECTIVE: Renal tumors are not uncommon in children. In this study, we aimed to evaluate the clinical and pathological features of renal tumors in children. MATERIAL AND METHODS: Between January 2008 and December 2017, the records of children with renal tumors in our institution were retrospectively analyzed. Data collected were composed of demographic and clinical characteristics including gender, age at time of diagnosis, symptoms, laterality of the tumor and pathological evaluation. RESULTS: A total of 48 children with renal tumor (28 males and 20 females) were included in the study. They were diagnosed at mean age of 53.26±46.64 months (range: 1-192) and the mean follow-up period was 73.45±48.92 months (range: 6-120). The most common symptom was a lump or mass in the area of the kidneys (45.8%), abdominal pain and hematuria (14.6%). Four patients (8.3%) were diagnosed at antenatal period. 68.8% of the children had Wilms tumor and the major histological groups of non-Wilms renal tumors were renal cell carcinoma (12.5%), congenital mesoblastic nephroma (10.4%) and angiomyolipoma (4.2%). 10.4% of the children had bilateral tumors and one patients had Wilms tumor with horseshoe kidney. 87.5% of the children were treated with surgery and of those 7 (14.5%) underwent nephron-sparing surgery. The patients had chemotherapy and radiotherapy (83.3% and 41.7%, respectively). Seven patients (14.6%) died during follow-up. CONCLUSION: Wilms tumor is the most common pediatric renal neoplasm. On the other hand, we showed that considerable number of children with renal tumors had non-Wilms tumors including renal cell carcinoma, congenital mesoblastic nephroma and angiomyolipoma.

A Rare Cause of Abdominal Pain in Childhood: Cardiac Angiosarcoma.

Cardiac angiosarcomas are extremely rare in childhood, they are rapidly progressive tumours that often present themselves as diagnostic dilemmas, resulting in delayed diagnosis. Also, extracardiac manifestations, including abdominal pain, are extremely rare in patients with intracardiac tumors. We herein present the case of a 15-year-old girl who presented with abdominal pain. Echocardiography and thoracic computed tomography showed right atrial mass. The patient underwent surgery, chemotherapy, and radiotherapy. Eight months after treatment, abdominal recurrence was detected. The abdominal mass was resected, and radiotherapy and new chemotherapy protocol were given. The present case illustrates a rare case of primary cardiac angiosarcoma posing a diagnostic dilemma in an adolescent girl.

Prevalence and Related Factors of Euthyroid Sick Syndrome in Children with Untreated Cancer According to Two Different Criteria

OBJECTIVE: In this study, we evaluated the frequency of euthyroid sick syndrome (ESS) among patients with childhood cancer and its association with the stage of disease, nutritional parameters and cytokines levels. METHODS: Eighty newly diagnosed children were included in the study. ESS was assessed in two different ways. According to criteria 1 ESS was present if free triiodothyronine (fT3) was below the lower limit and free thyroxine was within the normal or low limits, thyroid-stimulating hormone (TSH) was in the normal range. According to criteria 2, in addition to the above, it was required that reverse triiodothyronine (rT3) be performed and was higher than normal limits. RESULTS: Three of our pediatric patients had subclinical hypothyroidism and two had subclinical hyperthyroidism. Out of 75 patients, ESS was identified in 14 (17.3%) according to criteria 1 and in eight (10.6%) according to criteria 2. Only fT3 levels were significantly different in the ESS (+) and ESS (-) groups (p<0.05) according to criteria 1. A significantly negative correlation between interleukin (IL)-6 and fT3 was found, according to both sets of criteria. tumor necrosis factor alpha was negatively correlated with fT3 levels only in the criteria 1 group. There were no correlations between IL-1ß and fT3, free thyroxine, rT3 and TSH levels. CONCLUSION: ESS may occur in childhood cancer and thyroid function testing should be performed routinely when cancer is diagnosed.

A rare cause of abdominal pain in childhood: cardiac angiosarcoma

Abstract Cardiac angiosarcomas are extremely rare in childhood, they are rapidly progressive tumours that often present themselves as diagnostic dilemmas, resulting in delayed diagnosis. Also, extracardiac manifestations, including abdominal pain, are extremely rare in patients with intracardiac tumors. We herein present the case of a 15-year-old girl who presented with abdominal pain. Echocardiography and thoracic computed tomography showed right atrial mass. The patient underwent surgery, chemotherapy, and radiotherapy. Eight months after treatment, abdominal recurrence was detected. The abdominal mass was resected, and radiotherapy and new chemotherapy protocol were given. The present case illustrates a rare case of primary cardiac angiosarcoma posing a diagnostic dilemma in an adolescent girl.

Metachronous Synovial Sarcoma After Treatment of Mixed Germ Cell Tumor in a Child with Complete Gonadal Dysgenesis.

Patients with complete XY gonadal dysgenesis (GD) show a high predisposition to germ cell tumors (GCT). Patients with coexistence of GCT and GD have been reported previously. Here we present a 15-year-old girl with mixed GCT and GD who also developed an intra-abdominal synovial sarcoma one year after the treatment. This is the first report, to our knowledge, of synovial sarcoma associated with XY GD.

[Diagnostic accuracy of the LightCycler® SeptiFast assay in the childhood febrile neutropenia]. / Çocukluk çagi nötropenik ates ataklarinda LightCycler® SeptiFast testinin tanisal dogrulugu.

Infection is the main problem among the patients receiving cancer therapy. The mortality rate can be reduced by the appropriate treatment in the right time. Although blood culture is the gold standard for the diagnoses of sepsis, many factors influence the results of blood culture in children. For this reason, real time polymerase chain reaction (Rt-PCR) has gained importance for the diagnoses of microbiological agents as it is faster than the conventional methods. In this study, we aimed to compare the efficacy of SeptiFast (SF) test with blood culture among children with neutropenic fever. Between January 2013 and December 2014, 62 children (34 boys, 38 girls) mean age 7.56 ± 4.8 (0-18) years with cancer were included in this study during their 94 febrile attacks of neutropenia (NA). Blood samples for blood culture and Septifast test were taken before the initiation of antibiotic therapy. Blood cultures were routinely collected in aerobic and anaerobic media and incubated using the BACTEC 9120 system (Becton-Dickinson Diagnostic Systems, USA). Identification and antimicrobial susceptibility testing of the isolates were performed using the Vitek2® system (bioMérieux, France) according to the recommendations of the Clinical and Laboratory Standards Institute. The LightCycler SF test was used according to the manufacturer instructions. Of 94 attacks 34 (36.1%) were positive for blood culture and 33 (35.1%) for SF test. The positivity ratio is found as 29.7% (28/94) by blood culture when the analysis of five coagulase negative staphylococci were excluded due to contamination. Positivity was detected in 25 (26.6%) of the 94 NA both with blood culture and SF test.The difference between these two tests was statistically significant (p< 0.05). There was discordance with a rate of 28.7% between these two methods. Polymicrobial infections were detected only with SF test. The detection of fungal infection rate was higher with SF test than blood culture. When SF test was compared with blood culture the results were as follows; sensitivity 91%, specificity 98.3%, positive predictive value 97%, negative predictive value 96.7%, diagnostic performance was 96.2%, respectively. As a result, PCR based tests can be used in children with NA attacks even though blood culture is still needed to perform the antibiotic sensitivity tests. SF test seems to be a sensitive test for the early diagnosis of the pathogens and the initiation of the appropriate therapy according to the etiological agent.

Rare Endobronchial Inflammatory Myofibroblastic Tumor in Pediatric Patient Detected on PET/CT Imaging.

Inflammatory myofibroblastic tumor (IMT) can be seen in all age groups, although it is more common in children and adolescents. We report the FDG PET/CT findings in an 8-year-old boy with endobronchial IMT. Endobronchial IMT is more commonly seen in young adults.

The diagnostic and prognostic value of angiopoietins compared with C-reactive protein and procalcitonin in children with febrile neutropenia.

Mimaroglu E, Çitak EÇ, Kuyucu N, Eskendari G. The diagnostic and prognostic value of angiopoietins compared with C-reactive protein and procalcitonin in children with febrile neutropenia. Turk J Pediatr 2017; 59: 418-425. In this study, we aimed to determine serum angiopoetin (Ang) levels and compare them with levels of C-reactive protein (CRP) and procalcitonin (PCT). Cancer patients (aged 0-18 years) who experienced febrile neutropenia attacks were included in the study. Ang-1, Ang-2, CRP, and PCT were analyzed at admission and 2nd day. Ninety-four episodes of febrile neutropenia that developed in 62 patients were analyzed in this study. The mean age of the patients was 7.56 ± 4.8 (0.5-17) years. The patients had lymphoma (33.9%), solid tumors (48.4%), and other cancer (17.7%). The percentages of the patients with fever of unknown origin (FUO), clinically documented infection (CDI), and microbiologically documented infection (MDI) categories were 45.7%, 22.3%, and 31.9%, respectively. During the study period 11 patients were lost to follow-up. The levels of CRP, PCT and Ang-2 were significantly higher; and that of Ang-1 was significantly lower, compared to the controls. The differentiation cannot be made between the groups by CRP and PCT levels. The level of Ang-1 was the lowest in MDI group; the level of Ang-2 and the ratio of Ang-2/Ang-1 were high in each group. Ang-1, Ang-2 and the ratio of Ang-2/Ang-1 were significantly associated with mortality. Angs correlated with the severity of infection.

Primary pulmonary Langerhans cell histiocytosis associated with smoking in an adolescent boy.

Pulmonary Langerhans cell histiocytosis (PLCH) is a well known entity in adults but is exceedingly rare in children. It is better described in adults than in children. Smoking is a major etiological factor in adulthood. We report a case of a previously healthy 16-year-old male with a history of cigarette smoking, who presented with cough with sputum, breathlessness, easy fatigability and loss of appetite for two weeks. He was first diagnosed with bronchiectasis according to the cystic pulmonary changes demonstrated by computed tomography. After appropriate treatment, there was no sign of clinical improvement. A lung biopsy confirmed Langerhans cell histiocytosis (LCH). The definitive diagnosis was isolated pulmonary LCH. PLCH should be considered in the etiology of cystic lung diseases. Isolated pulmonary LCH is rare so such cases are needed to be reported and followed-up to understand the treatment response and course of this illness.

Malignant epitheloid angiomyolipoma of the kidney in a child treated with sunitinib, everolimus and axitinib.

The malignant variant of epithelioid angiomyolipoma (EAML) of the kidney is uncommon, extremely aggressive and behaves like a renal cell carcinoma. We present a case of a 12-year-old male with malignant EAML who was treated according to adult treatment protocols. To our knowledge, axitinib has not been used before in children. We conclude that adult protocols, in this rare case, could be safely used in rare childhood malignancies.

Risk factors for cisplatin-induced long-term nephrotoxicity in pediatric cancer survivors.

BACKGROUND: The aim of this study was to compare the nephrotoxicity risk of cisplatin (CPL) and ifosfamide (IFO) combination treatment (CT) with that of CPL alone and to evaluate the prevalence of CPL-induced long-term nephrotoxicity in pediatric cancer survivors (CS). METHODS: A total of 33 patients with pediatric solid tumors who have been cured of their disease were included in the study. They were divided into two groups based on the type of chemotherapeutics, either CPL (n = 21) or CT (n = 12), given during cancer treatment and were evaluated for glomerular and tubular function using the Skinner grading system. RESULTS: Nephrotoxicity was found in 15 CS (45.4%): seven (21.3%) of those had moderate, six (18.2%) had mild, and two (6.1%) had severe nephrotoxicity. Neither the rates of overall nephrotoxicity, glomerular toxicity and tubular toxicity, nor the mean overall, glomerular and tubular toxicity scores differed significantly among the CPL and CT groups (P > 0.05 for all parameters). Cumulative IFO dose and age at treatment were found to be independent risk factors for both development and severity of CPL-induced nephrotoxicity (P = 0.025 and P = 0.036 for development of nephrotoxicity; P = 0.004 and P = 0.050 for severity of nephrotoxicity, respectively). CONCLUSIONS: Although CPL-induced long-term nephrotoxicity was found in half of the pediatric CS of solid tumors, clinically significant nephrotoxicity was detected only in a minority of them. Both higher cumulative IFO dose and younger age at treatment were found to be independent risk factors for both development and severity of CPL-induced nephrotoxicity.