Elif Güler

Extraneural metastasis in a child with atypical teratoid rhabdoid tumor of the central nervous system.

Atypical teratoid rhabdoid tumor is a distinctive brain tumor appearing in infancy and early childhood. Leptomeningeal dissemination is common, both at presentation and relapse. Extracranial metastases of the central nervous system tumors are rarely seen. To our knowledge there is only one report with an atypical teratoid rhabdoid tumor metastasizing via a ventriculoperitoneal shunt. We describe the first case of atypical teratoid rhabdoid tumor of the central nervous system who developed lung metastasis without the presence of a shunt.

Unusual presentation: Pulmonary hemosiderosis with celiac disease and retinitis pigmentosa in a child†

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease characterized by anemia, hemoptysis and recurrent alveolar hemorrhage. The combination of IPH and celiac disease (CD) is extremely rare. We report a 9‐year‐old boy with Lane‐Hamilton syndrome, co‐occurrence of pulmonary hemosiderosis with CD. This presentation is unique presentation because he has also retinal pigmentation. Pediatr. Pulmonol. 2011; 46:820–823.

Nitric Oxide: A New Biomarker of Doxorubicin Toxicity in Children?

Doxorubicin (DOX) has been used in the treatment of childhood cancers, but its usage is limited because of cardiotoxicity. There are many studies on the role of nitric oxide (NO) in several cardiac diseases. However, to the authors’ knowledge, no studies have investigated the plasma levels of total nitrite, a stable product of NO, in children that received DOX. The authors determined plasma total nitrite levels in 29 children who received DOX and investigated the correlations between these and other clinical and laboratory findings. All patients were in remission during the study period. Plasma total nitrite levels and cardiac functions were determined prospectively. The mean cumulative DOX dose was 310.0 ± 90.9 mg/m2. In echocardiographic evaluation, 3 patients (10.3%) had a pathological value for ejection fraction (EF) and/or fractional shortening (FS), whereas 11 patients (37.9%) had a threshold value. Total nitrite levels were higher in patients than in matched controls (75.24 ± 39.4 vs 43.14 ± 10.58 μmol/L, respectively, P < .001). It was also found to be higher in patients who had a pathological/threshold value of EF and FS than in patients who had a physiological value of EF and FS (92.35 ± 50.36 vs 59.26 ± 13.56 μmol/L, respectively, P = .038). A negative correlation was found between FS and plasma total nitrite level (r = −.42, P = .023). The authors speculate that increased NO may be a sign of subclinical cardiotoxicity of DOX.

Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation

Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.

Acute blindness as a presenting sign in childhood non-Hodgkin lymphoma.

Non-Hodgkin lymphoma is the third most common malignancy in childhood. Occasionally, a patient with lymphoma may present with neuroophthalmologic symptoms and signs. It is usually associated with 3rd, 4th, and 6th cranial nerve palsies. Here, we report three children presenting with loss of vision. Two of them were cured with modified LMB-89 (lymphoma malignant B) chemotherapy regimen and radiotherapy. In one patient, loss of vision returned to normal in the left eye but persisted in the right eye. The second patient suffered from permanent visual loss, although the primary disease responded well to treatment. Unfortunately, the third patient died at an early phase of treatment. Acute blindness as a presenting symptom is rare in lymphoma. Early diagnosis and treatment is critical to increase the survival rate and to improve the quality of the vision.

Local defense systems in the prepuce

Objective. Urinary tract infection (UTI) is a common bacterial infection in children. Circumcision reduces the incidence of UTI, and prevents preputial colonization with uropathic bacteria in childhood. However, there is insufficient information about the reason(s) why such colonization tends to occur in prepucium skin. Material and methods. We evaluated some of the humoral and cellular defense systems in the prepucium skins of 30 boys (age range 6 months to 5 years). We measured the expressions of Langerhans cells, mast cells, T lymphocytes, IgA, IgG and IgM in the prepuce and compared them with those in normal skin. Tissues obtained during circumcision were divided into two groups. In the first group, sections were stained with hematoxylin–eosin and toluidine blue. Immunohistochemical reactions were performed on paraffin-embedded tissue by means of the avidin–biotin–peroxidase complex method. The antibodies used were S-100 for Langerhans cells and CD8 and CD4 for T lymphocytes. In the second group, frozen sections were stained for IgA, IgG and IgM using an immunofluorescence method. Results. The distribution of mast cells and IgG positivity was similar to that of normal skin. Langerhans cells were increased in prepucium skin (p<0.05), whilst only a few CD4 T lymphocytes were observed around the perivascular area and no expression of CD8 was observed in the prepucium and normal skin. Conclusions. The increase in Langerhans cells in prepucium skin may be the result of continuous stimulation of bacteria found in the periurethral area, and the absence of CD8 may help the colonization of uropathic bacteria.

Dyskeratosis congenita with isolated neutropenia and granulocyte colony-stimulating factor treatment

A 3‐year‐old Turkish boy with a history of chronic cough, recurrent bronchopneumonia, and a borderline sweat chloride test (40 mEq/L) was referred for further evaluation to our department. He was born at term (2100 g) to a marriage with no consanguinity. His mother and father were 40 and 46 years old, respectively.

Delays in Diagnosis of Childhood Cancer in Southeastern Turkey and the Associated Factors

In childhood cancer patients, early diagnosis may have an impact on survival that reduces the potential morbidity. This study aimed to identify the factors associated with delay in diagnosis in children with cancer in southeastern Turkey. The clinical records of 682 patients with childhood cancer were evaluated. Study variables were classified as factors related to the patient, their disease, and the health care system. The median parental delay, physician delay, and total delay were determined as 20, 23, and 60 days, respectively. There was a significant relationship between parental delay, physician delay, and total delay and age at diagnosis (P = .005, P = .008, and P = .004, respectively). Long parental delay was least frequent in children younger than 1 year (P = .001). Parental, physician, and total delay were longer in patients with solid tumors than in patients with leukemias (P = .007, P = .000, and P = .000, respectively). Patients with tumors of the genitalia had longer physician delay and total delay than patients with other solid tumors (P = .001 and P = .000, respectively). Patients with solid tumor and early-stage disease had longer physician delay and total delay (P = .016 and P = .013, respectively). According to the first physician contacted, long physician delay was less frequent among pediatricians (P = .003). Delayed diagnosis was associated with age, type/localization and stage of tumor, the first physician consulted, and area of residence. A sustained effort should be made to raise the level of awareness of childhood cancer among parents and to sensitize all physicians, especially those who treat pediatric patients infrequently, with regard to the warning signs of the disease.

Prevalence of hypertension determined by ambulatory blood pressure monitoring (ABPM) and body composition in long-term survivors of childhood cancer

ABSTRACT Aim: In recent years, survival rates of childhood cancers have significantly increased, and occurrence of long-term adverse late effects (eg, insulin resistance, diabetes mellitus, metabolic syndrome, hypertension) has become increasingly important. Early diagnosis of obesity/hypertension in childhood is essential to avoid morbidity in the adulthood. Therefore, this study was aimed to determine the blood pressure (BP) profile by ambulatory BP monitoring (ABPM) method, and prevalence of hypertension, obesity, abdominal obesity among childhood cancer survivors. Material and method: The study was carried out with 52 cancer survivors. The ABPM measurement was performed during 24 hours. The anthropometric measurements of patients were performed using standardized protocols. The body composition analysis was performed with bioelectrical impedance analysis (BIA) method. Statistical significance was considered at p < 0.05. Results: The mean age of patients was 12.84 ± 3.88 years. Time off therapy ranged 24–125 month. The prevalence of prehypertension and hypertension were 57.7% and 9.6%, respectively. There was no statistically significant relationship between diagnosis and BP status (p = 0.59). The prevalence of obesity, and abdominal obesity were 1.9% and 30.4%, respectively. There was a positive correlation between waist circumference (WC) and time off therapy (p = 0.046). The WC was found to be higher in patients who received cranial irradiation (p = 0.048). Weight/WC were higher in patients who used corticosteroids in the treatment (p = 0.019). Conclusion: Careful follow up of BP, weight and WC is necessary for long-term cancer survivors to prevent complications. Especially patients who receive cranial radiotherapy and use corticosteroid are at increased risk of abdominal obesity.