Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.

Abdominal pain in a 5-year-old girl with bilateral nephromegaly: Answers.

Renal involvement in non-Hodgkin lymphoma is a recognized development, but it mostly follows a diagnosis of lymphoma. We describe a rare case of a T-cell-type non-Hodgkin lymphoma that first presents as nephromegaly in a 5-year-old girl admitted to the emergency department with abdominal pain. Further investigation revealed bilateral nephromegaly, but the results of blood tests, imaging studies, and bone marrow aspiration were inconclusive. During the second week of hospitalization, significant physical examination revealed an enlarged lymph node in the anterior cervical chains, confirming a diagnosis of Non-Hodgkin's lymphoma. This case illustrates that it is important to have a high degree of suspicion in any patient presenting with unexplained enlarged kidneys without any identifiable cause because it could be the first presentation of a hematologic malignancy.

High Infection-Related Mortality in Pediatric Acute Myeloid Leukemia without Preventive Antibiotics and Antifungals: Retrospective Cohort Study of a Single Center from a Middle-Income Country.

OBJECTIVE: This study aimed to evaluate infection-related mortality in patients with acute myeloid leukemia (AML) treated without preventive antibiotics and antifungals in a middle-income country. MATERIALS AND METHODS: Infection-related mortality was evaluated retrospectively in 49 pediatric patients. RESULTS: A total of 173 chemotherapy courses were administered as first-line chemotherapy. Four patients died during induction: one patient due to intracranial bleeding, two patients due to typhlitis, and one patient due to invasive fungal infection with pulmonary vascular invasion and massive bleeding. Another two patients died with resistant disease. During consolidation there were four infection-related deaths and one death due to cardiotoxicity. In first-line chemotherapy mortality was 22% (11/49); infection-related mortality was 14% (7/49). Event-free survival and overall survival at 6 years were 42.9% and 61.2% (95% CI: 44-76 and 66-99 months), respectively. CONCLUSION: Due to considerable infection-related deaths, antibacterial and mold-active antifungal prophylaxis may be tried during neutropenic periods in pediatric AML.

Endobronchial recurrence of non-Hodgkin's lymphoma mimicking foreign body aspiration.

A 2-year-old patient with a history of non-Hodgkin's lymphoma (NHL) was presented to our hospital with the complaint of shortness of breath and wheezing. Posteroanterior chest radiograph revealed hyperlucency and hyperexpansion of the right hemithorax. We performed computed tomography (CT) because of a suspicion of foreign body aspiration. CT revealed right main bronchus occlusion by a hypodense lesion. Bronchoscopy revealed a mass lesion in the right main bronchus which was histopathologically diagnosed as NHL. Only a few cases of endobronchial recurrence of lymphoma have been reported in the current literature, but there is no reported case in a pediatric patient.

Do proinflammatory cytokine levels predict serious complication risk of infection in pediatric cancer patients?

Determination of risk of severe bacterial infection complication in children with cancer is important to diminish the cost of hospitalization and therapy. In this study, children with cancer (leukemia excluded) were evaluated for risk of severe infection complication, success of therapy and the relation between clinical and inflammatory parameters during neutropenic fever attacks. Children who fulfilled the criteria of neutropenic fever with cancer were enrolled in the study. During admission, together with clinical and laboratory parameters; interleukin-6, interleukin-8, soluble tumor necrosis factor receptor II, and soluble interleukin 2 reseptor ve procalcitonin levels were detected. Empirical therapy was started with piperacillin/tazobactam and relation between the inflammatory cytokine levels and therapy response parameters were evaluated. The study population included 31 children and 50 neutropenic attacks were studied. In 48% of the attacks, absolute neutrophile count was >100/mm(3) and infectious agents were shown microbiologically in 12% of the attacks. In the study group with piperacillin/tazobactam monotherapy, the success rate without modification was 58%. In the therapy modified group mean duration of fever, antibiotherapy and hospitalization were significantly longer than the group without modification. Inflammatory cytokines' levels during admission (interleukin-6, interleukin-8, soluble tumor necrosis factor reseptor II) were higher in patients with fever >3 days and in multiple regression analysis, it has been shown that they have a determinative role on fever control time. Other cytokines did not show any significant relationship with risk of severe bacterial infection complication and success of therapy.

Golden bullet-denosumab: early rapid response of metastatic giant cell tumor of the bone.

Giant cell tumor of the bone (GCTB) is usually a benign, locally aggressive tumor with metastatic potential. Histogenesis of GCTB is unknown and a correlation has not been found between histologic and clinical course. For this reason, many authors consider its prognosis unpredictable. Lung metastasis after GCTB treatment is well known and generally has unfavorable outcome, despite varied chemotherapy regimens. Denosumab, which inhibits RANK-RANKL interaction, is a new, promising actor among targeted therapeutic agents for GCTB. In this report, we emphasize on early rapid response to denosumab in metastatic GCTB.

Concomitant meningioma and glioma within the same optic nerve in neurofibromatosis type 1.

A patient with neurofibromatosis type 1 and the rare finding of concomitant meningioma and optic pathway glioma within the same optic nerve is presented. A 4-year-old boy was admitted to our hospital with right-sided proptosis. He also had numerous café-au-lait macules and axillary freckling on physical exam. According to National Institutes of Health (NIH) criteria, he met the diagnostic criteria for neurofibromatosis type 1. On magnetic resonance imaging (MRI), a mass originating from the right optic nerve sheath with normal appearance of the optic nerve was observed, which was consistent with optic nerve sheath meningioma. Another mass lesion was observed in the prechiasmatic region of the same optic nerve, which was consistent with optic nerve glioma. Two different types of optic pathway tumors in the same optic nerve is an extraordinary case. It is important to recognize imaging findings of these tumors and make correct diagnosis.

Mediastinal Hodgkin lymphoma arising from cystic lymphangioma: case report in a child.

Mediastinal disease is a frequent clinical presentation in children with Hodgkin lymphoma. It is usually due to mediastinal lymphadenopathy or involvement of the thymus gland. Cystic lymphangiomas are benign tumors of the lymphatic system, and less than 1% present as a solitary mediastinal mass. To our knowledge, there has been no report in the literature describing Hodgkin lymphoma arising from cystic lymphangioma. In this report, we describe a patient with mediastinal cystic lymphangioma, from which Hodgkin lymphoma was determined to have arisen.