Cerebral Involvement of Hemophagocytic Lymphohistiocytosis in Griscelli Syndrome

Type II Griscelli Syndrome (GS) is caused by a mutation in the RAB27A gene and usually manifests with silvery-gray hair, immune deficiency and the development of hemophagocytic lymphohistiocytosis (HLH). A hematopoietic stem cell transplantation is the curative treatment for HLH and reduced-intensity conditioning prevents the morbidity/mortality in the transplantation related to myeloablative conditioning. We report on a 21-month old boy with cerebral involvement of HLH related to GS

Management of Two Juvenile Myelomonocytic Leukemia Patients According to Clinical and Genetic Features

Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder of childhood. Major progress has been achieved in diagnosis and the understanding of the pathogenesis of JMML by identifying the genetic pathologies that occur in patients. Mutations of RAS, NF1, PTPN11, and CBL are found in approximately 80% of JMML patients. Distinct clinical features have been reported to be associated with specific gene mutations. The advent of genomic studies and recent identification of novel genetic mutations in JMML are important not only in diagnosis but also in the management and prognosis of the disease. Herein, we present 2 patients with JMML harboring different mutations, NRAS and c-CBL, respectively, with distinct clinical features and different therapeutic approaches

Management of Two Juvenile Myelomonocytic Leukemia Patients According to Clinical and Genetic Features

Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder of childhood. Major progress has been achieved in diagnosis and the understanding of the pathogenesis of JMML by identifying the genetic pathologies that occur in patients. Mutations of RAS, NF1, PTPN11, and CBL are found in approximately 80% of JMML patients. Distinct clinical features have been reported to be associated with specific gene mutations. The advent of genomic studies and recent identification of novel genetic mutations in JMML are important not only in diagnosis but also in the management and prognosis of the disease. Herein, we present 2 patients with JMML harboring different mutations, NRAS and c-CBL, respectively, with distinct clinical features and different therapeutic approaches

Management of Invasive Fungal Infections in Pediatric Acute Leukemia and the Appropriate Time for Restarting Chemotherapy

INTRODUCTION: Rapid and effective treatment of invasive fungal infection (IFI) in patients with leukemia is important for survival. In this study, we aimed to describe variations regarding clinical features, treatment modalities, time of restarting chemotherapy, and outcome in children with IFI and acute leukemia (AL). METHODS: The charts of all pediatric AL patients in our clinic between the years of 2001 and 2013 were retrospectively reviewed. All patients received prophylactic fluconazole during the chemotherapy period. RESULTS: IFI was identified in 25 (14%) of 174 AL patients. Most of them were in the consolidation phase of chemotherapy and the patients had severe neutropenia. The median time between leukemia diagnosis and definition of IFI was 122 days. Twenty-four patients had pulmonary IFI. The most frequent finding on computed tomography was typical parenchymal nodules. The episodes were defined as proven in 4 (16%) patients, probable in 7 (28%) patients, and possible in 14 (56%) patients. The median time for discontinuation of chemotherapy was 27 days. IFI was treated successfully in all patients with voriconazole, amphotericin B, caspofungin, or posaconazole alone or in combination. Chemotherapy was restarted in 50% of the patients safely within 4 weeks and none of those patients experienced reactivation of IFI. All of them were given secondary prophylaxis. The median time for antifungal treatment and for secondary prophylaxis was 26 and 90 days, respectively. None of the patients died due to IFI. DISCUSSION AND CONCLUSION: Our data show that rapid and effective antifungal therapy with rational treatment modalities may decrease the incidence of death and that restarting chemotherapy within several weeks may be safe in children with AL and IFI

Evaluation of Febrile Neutropenic Episodes of Childhood Malignancies

Introduction:The most important side effect of therapeutics given for cancer treatment is febrile neutropenia. Neutropenia expected to be longer than seven days and severe neutropenia (absolute neutrophil count <100/mm3) especially in hematologic cancers and solid organ tumors that show bone marrow dissemination is accepted as a high-risk feature by American Infectious Disease Society. The emergent approach to a febrile neutropenia attack is to give intravascular antibiotherapy within the shortest time possible. We aimed to evaluate the febrile neutropenia attacks of pediatric cancer patients in a tertiary referral hospital during a 27-month period.Methods:Febrile neutropenia attacks of cases treated between January 2012 and March 2014 were investigated retrospectively from the patient files. Febrile neutropenia was defined as absolute neutrophil count below 500/mm3 or between 500-1000/ mm3 but expected to fall below 500/mm3 within 48 hours in the presence of fever of 38,50C with single axillary measurement or above 380C for one hour or two measurements above 380C within 4 hours.Results:One hundred thirty-one febrile neutropenia attacks of 48 patients were investigated retrospectively. Fever was managed within 24 hours in 69% patients. Peripheral and catheter-drawn blood cultures showed bacterial growth in 36% of the attacks, 64% of these growths being gram negative bacteria. Empirical treatment with piperacilin-taxobactam was observed to be efficient in 32% of the attacks. As a supportive treatment, cases received G-CSF in 19% of the attacks.Conclusion:In order to, minimize morbidity and mortality of febrile neutropenia, wide spectrum antibiotics must be given intravenously within the shortest time possible in pediatric cancers

A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene

Autosomal recessive osteopetrosis is also known as infantile malignant osteopetrosis (IMO). The clinical course is often serious andif left untreated, it is fatal in the 1st year of life. Diagnosis is challenging and often delayed or misdiagnosed. Herein, we presentan infant girl who was diagnosed with IMO during evaluations for her hypotonicity and thrombocytopenia. A novel mutation ofthe chloride voltage-gated channel 7 (CLCN7) gene was also reported. A 10-day-old female patient was referred to our hospital forevaluation of hypotonicity. Her physical examination was normal, other than hypotonicity. Laboratory analysis revealed thrombocytopenia and hypocalcemia. In the progress, while she was followed in outpatient clinic, hepatosplenomegaly was detected atthe age of 3 months. IMO was suspected with the findings of hepatosplenomegaly, cytopenia, hypocalcemia, difficulty of obtaining bone marrow, peripheral smear findings, and hearing loss. The X-ray of the bones was consistent with IMO. A novel pathogenichomozygous c.1504&gt;T (p.Arg502Trp) mutation in CLCN7 gene was revealed. IMO is a rare disorder and it is important to differentiate this entity for better clinical outcome. The presence of neurological and hematological findings, organomegaly, hearing loss,and vision disorders must attract attention to IMO.</p