Showing papers in "Turkish Journal of Pediatrics in 2005"

L-2-hydroxyglutaric aciduria: a report of 29 patients.

Abstract: L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease characterized mainly by psychomotor developmental delay and cerebellar dysfunction. We report the clinical, biochemical, and neuroimaging features of 29 patients from 22 families. The mean age at the time of diagnosis was 13.4 years (2.5-32 years). The mean follow-up period of patients was four years (1.5-16 years). The main clinical findings were mental retardation and cerebellar involvement with ataxic gait and intentional tremor. Additional findings were mental retardation, macrocephaly and seizures. Diagnosis was confirmed by increased urinary excretion of L-2-hydroxyglutaric acid in all patients and highly specific magnetic resonance imaging (MRI) pattern showing subcortical leukoencephalopathy with bilateral high signal intensity in dentate nuclei and putamens. During the follow-up period, all patients had a static encephalopathy course. The underlying metabolic defect and the possible role of L-2-hydroxyglutaric acid are studied in a subgroup of these families and under evaluation for publication.

Fatty liver in obese children: prevalence and correlation with anthropometric measurements and hyperlipidemia.

Abstract: The aim of this study was to evaluate the correlation of ultrasonography-proven fatty liver with liver functions, serum lipid levels and anthropometric measurements in children with exogenous obesity. Three hundred and twenty-two patients (183 girls, 56.8%) with a mean age of 11.4+/-3.2 years (4-18 years) who presented with the complaint of obesity were enrolled. In 38 (11.8%) patients, increased liver echogenicity resembling fatty liver was found (Group 1). The body mass index percentages of group 1 patients were significantly higher than of those without fatty liver (Group 2) (157.7+/-18.0 vs 151.3+/-17.8, p=0.038). Alanine and aspartate aminotransferase levels of group 1 patients were significantly higher than of group 2 (p=0.002 vs p=0.028, respectively). Triglyceride levels were significantly higher in group 1 patients (120.8+/-88.8 vs 100.5+/-58.5 mg/dl, p=0.044). In conclusion, ultrasonography is an easy and noninvasive method for the diagnosis of fatty liver in children with obesity. Body mass index and serum lipids were higher in group 1 patients. The diagnosis and early treatment of obesity in childhood is important for the prevention and better treatment of related complications. Thus, ultrasonography should be a part of the early evaluation of obese children.

The carriage of group B streptococci in Turkish pregnant women and its transmission rate in newborns and serotype distribution

Abstract: The prevalence of group B streptococci (GBS) colonization was studied in 500 pregnant women and their newborn infants by collecting vaginal and rectal swabs from mothers, and umbilical and throat swabs from their infants. Forty-six isolates of GBS were obtained from mothers' specimens and eight from neonates. Maternal and infant colonization rates were found to be 9.2% and 1.6%, respectively. Vertical transmission rate was 15.2%. Additionally, serotypes and antimicrobial susceptibility of 54 isolates of GBS were determined. Type Ia, II and III were common serotypes among GBS isolates from mothers and infants. When evaluating the factors that affect GBS carriage, age, socio-economic status and education level of pregnant women were important for carriage, while use of intrauterine device and parity were unrelated. No resistance to ampicillin, penicillin, ceftriaxone or vancomycin was found by disk diffusion method. A high level of resistance against tetracycline was noted (91%). Although invasive serotypes are predominant, the rarity of GBS disease in Turkish infants may be due to low rates of maternal carriage or to their possessing protective levels of GBS-specific IgG antibody in their sera.

Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies.

Abstract: Congenital heart disease (CHD) is one of the important groups of birth defects and contributes significantly to infant mortality. Extracardiac anomalies occur in 15-45% of cases with CHD. In this retrospective study, autopsies of cases born alive and diagnosed as CHD between 1977-2002 at Hacettepe University Ihsan Dogramaci Children's Hospital, Pediatric Pathology Department, were investigated. In this period, a total of 3320 autopsies were performed and the incidence of CHD was 9.1%. The most commonly encountered CHD was ventricular septal defect (VSD) (15.3%). In 45.9% of cases, one or more extracardiac malformations were present. The most commonly encountered extracardiac malformation was craniofacial malformations. Less commonly seen were malformations of genitourinary, musculoskeletal, respiratory, gastrointestinal, central nervous systems and spleen anomalies. Ventricular septal defect, atrial septal defect (ASD), aortic coarctation, single ventricle, pulmonary stenosis, hypoplastic right heart syndrome, double outlet right ventricle, ASD+VSD, aortic arcus anomalies, and right and left atrial isomerism cases were often (>50%) accompanied by extracardiac malformations. No extracardiac malformations were detected accompanying pulmonary atresia with intact interventricular septum, Ebstein malformation, and mitral stenosis (MS). Spleen malformation was significantly high in cases with single ventricle (p<0.002). The anomalies of the gastrointestinal and genitourinary systems were found to be frequently associated with conotruncal heart defects (p<0.001). In the group with transposition of the great arteries, noncardiac malformations were present in only three cases (10%), differing from the rest of the material (p<0.001). In conclusion, when a heart malformation is detected in a patient, a detailed investigation should be done on extracardiac malformations or vice versa. Proper identification and treatment of CHD early in the prenatal period will save the family from the economic and emotional burden caused by having such a child with CHD.

Use of polymerase chain reaction for detection of adenovirus in children with or without wheezing.

Abstract: The frequencies of adenovirus in asymptomatic and symptomatic asthmatic patients, healthy controls and wheezy children were as follows: 33.3%, 71.4%, 37% and 62.96%, respectively. The adenovirus was detected in a significantly higher percentage in the upper airways of patients with asthma exacerbation and in children with wheezing than in patients without asthma exacerbation and in the healthy controls (p<0.05). The frequency of adenovirus was not different between asthmatic patients receiving or not receiving inhaled corticosteroid.

The efficacy of immunoglobulin replacement therapy in the long-term follow-up of the B-cell deficiencies (XLA, HIM, CVID).

Abstract: Immunoglobulin replacement therapy is the essential treatment of B-cell deficiencies. Because of the high expense of therapy, optimal dose, infusion intervals and serum IgG levels should be well defined. Data of 19 X-linked agammaglobulinemia (XLA), 7 hyper-IgM syndrome (HIM) and 20 common variable immunodeficiency (CVID) patients were analyzed. Infection frequencies and hospitalization requirements were correlated with the immunoglobulin doses used and serum IgG levels achieved. The characteristics before diagnosis and after treatment were compared among the XLA, HIM and CVID groups. By using a median dose of 370 mg/kg/month immunoglobulin, which maintained serum IgG levels at a median concentration of 440 mg/dl, the annual incidence of infections dropped from 12.4 to 3.2 and annual hospitalization requirements decreased from 1.6 to 0.16 per patient. Serum IgG levels of 300-500 mg/dl were found to be satisfactory, except in the CVID group. Increasing the level over 500 mg/dl neither prevented pneumonia further nor decreased the need for hospitalization. Monthly replacement was found to be adequate, except for XLA patients. Serum IgG levels between 300-500 mg/dl are sufficient for effective treatment of hypogammaglobulinemias. These concentrations can be maintained with 300-400 mg/kg/month doses. Higher doses and IgG levels are not needed.

Intralesional corticosteroid injection for central giant cell granuloma: a case report and review of the literature.

Abstract: Central giant cell granuloma (CGCG) is a benign intraosseous lesion of the jaws that is found predominantly in children and young adults. Although benign, it may be locally aggressive, causing extensive bone destruction, tooth displacement and root resorption. The common therapy is aggressive curettage, peripheral ostectomy or resection, which may be associated with loss of teeth and, in younger patients, loss of dental germs. A number of alternative nonsurgical approaches have been advocated in recent years for the management of CGCGs. These include intralesional corticosteroid injections, calcitonin injections and subcutaneous alpha-interferon injections. In this article, an 1-year-old boy with a CGCG is successfully treated with corticosteroid injections and this treatment is discussed within a review of the literature.

Blood lead levels of maternal-cord pairs, children and adults who live in a central urban area in Turkey.

Abstract: Lead levels were measured in blood samples of 99 adults, 180 children and 143 pregnant women living in Eskisehir, an urban area in Turkey. One hundred and twenty 120 cord blood and 93 breast-milk samples were also obtained. Mean lead level in blood of adults, children, pregnants, cord blood and in breast-milk samples were 3.13 +/- 1.4 microg/dl, 3.56 +/- 1.7 microg/dl, 2.8 +/- 1.5 microg/dl, 1.65 +/- 1.4 microg/dl and 2.34 +/- 1 microg/L, respectively. It was higher in men than in women in adults (p 10 microg/dl by the Centers for Disease Control and Prevention iron deficiency poor nutrition are the risk factors to lead exposure in children.

Usefulness of the myocardial performance index (MPI) for assessing ventricular function in obese pediatric patients.

Abstract: <(Group III). The mean ages were 12.1±1.8, 11.9±1.5 and 12.4±1.4 years, respectively. Cholesterol levels and body mass index (BMI) were higher in the hypertensive-obese group. The MPI values were 0.37±0.04, 0.43±0.08 and 0.51±0.11 in the three groups, respectively. MPI measurements, LV mass fractional shortening (FS), ejection fraction (EF) and mitral E/A ratio were found significantly different, especially in the hypertensive-obese group. These findings may be important to determine the relationship between obesity and cardiovascular risk factors in pediatric ages. MPI may be useful in determining the relationship between them.

Childhood acute rheumatic fever in Ankara, Turkey.

Abstract: Patients with acute rheumatic fever (ARF) admitted to a tertiary hospital in Ankara between January 1999 and July 2002 were studied cross-sectionally to verify the clinical profile and were followed during the acute period. All patients were investigated for throat culture, streptococcal serologic study, C-reactive protein, and erythrocyte sedimentation rate, and telecardiograms, electrocardiograms and echocardiographic study were done. During the study period, 129 attacks of ARF were observed: 118 were initial attacks and 11 were recurrences. Age on admission was 11.2 +/- 2.73 years (mean +/- SD, range: 6-21 years). Polyarthritis alone was present in 42 cases (33%), carditis alone in 33 (25%), combined carditis and polyarthritis in 36 (28%), combined carditis and chorea in 15 (12%) and chorea alone in 3 (2%). Nineteen (14%) patients with isolated arthritis and pure chorea had silent mitral and/or aortic regurgitation. Carditis was a dominant presenting manifestation, but appeared to be mild or moderate. The present study indicates that ARF is still a significant problem in Turkey. The observation that 8.5% of the attacks were recurrent reaffirms the need for more effective secondary prevention programs.

The contribution to success of various methods of treatment of temporomandibular joint ankylosis (a statistical study containing 24 cases).

Abstract: Temporomandibular joint (TMJ) ankylosis is an important joint disorder which, in addition to emerging through trauma, can also arise as a result of local and systemic infections. TMJ ankylosis which develops in childhood in particular has its own characteristics. Despite the existence of different views on the treatment of TMJ ankylosis, various techniques have been defined, and three basic techniques are currently employed: gap arthroplasty, interpositional arthroplasty and joint reconstruction. Our study is intended as a statistical inquiry into the contribution to the operation success of the three different methods of treatment. Moreover, the effect on treatment outcome of unilateral or bilateral ankylosis is also statistically evaluated. In our study, eight cases were treated with gap arthroplasty, nine with interpositional arthroplasty and seven with joint reconstruction performed by costochondral graft. As a result of our statistical evaluation, it was determined that the effect of interpositional arthroplasty on post-operative maximal interincisal mouth opening was greater than that observed with the other methods.

Respiratory syncytial virus epidemiology in Turkey

Abstract: Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections in infants and young children worldwide. This study was conducted to determine the prevalence of RSV among high-risk children admitted with respiratory symptoms in a developing country. This is a multicenter study conducted among children less than 24 months of age and admitted to the hospital with respiratory symptoms. The inclusion criteria included: lower respiratory tract symptoms on admission, gestational age less than 35 weeks, and admission age less than six months, or children less than 24 months of age with a diagnosis of bronchopulmonary dysplasia requiring medical treatment or intervention during the last six months or with an uncorrected congenital heart disease (other than patent ductus arteriosus). Nasopharyngeal samples were obtained with one of the three standard methods: nasopharyngeal aspirate, nasopharyngeal wash or nasopharyngeal swab. RSV antigen was determined by enzyme immunoassay using Abbott TESTPACK RSV (No. 8100/2027-16). Statistical analysis was performed using Student's t-test and chi-square test. In this study, 332 children (135 females, 40.7%; 197 males, 59.3%) were included, and the nasopharyngeal specimens of 98 (29.5%) children were determined to be RSV-positive. There were no differences in sex, age of gestation, age of admission, family education, number of siblings and smoking at home for RSV-positive and -negative cases. Furthermore, underlying disease and duration of hospital and intensive care unit stay were similar among groups. Only otitis media was more common among RSV-positive cases. No fatality at hospital was recorded. Frozen samples revealed more negative results. Most cases presented during winter and the number of RSV-positive cases was higher in cold and economically poor areas. Premature children and children with underlying medical condition acquire RSV irrespective of other sociodemographic risk factors, and most of them are hospitalized. Thus, an RSV vaccine seems the most effective mode of protection to decrease morbidity and mortality.

Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population.

Abstract: SUMMARY: Boduroglu K, Alanay Y, Alikasifoglu M, Aktas D, Tuncbilek E. Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population. Turk J Pediatr 2005; 47: 327-333. Maternal folic acid intake in the periconceptional period is strongly related to reduction in recurrence and occurrence of birth defects involving the neural tube. Among the single nucleotide polymorphisms (SNPs) influencing the folate metabolism, the methylenetetrahydrofolate reductase (MTHFR) gene has been the one most exclusively studied. Many studies have reported significant association between MTHFR 677C>T and increased risk of neural tube defects (NTDs). Our previous study did not support this observation. The present study aimed to determine the prevalence of 1298A>C polymorphism in addition to 677C>T in the same Turkish population as a risk factor for NTDs. We genotyped case (95 offspring with NTDs, 80 mothers, 72 fathers) and control (93 healthy children) populations for MTHFR 677C>T and MTHFR 1298 A>C polymorphisms. The comparison demonstrated a significant increase in the 1298AA/677TT genotype frequency among mothers of offspring with NTDs (OR 5.23 [1.06-25.9]; p=0.067). The 677CT genotype was only 1.35 times higher than controls among mothers when 677C>T polymorphism was evaluated alone, while 677CT/1298AC in the current study demonstrated a 3.8 times increase in this risk. These observations led us to conclude that although not statistically significant, MTHFR 1298AC polymorphism might be a risk factor for the occurrence of NTDs in the Turkish population.

Superoxide dismutase activity in colostrum, transitional and mature human milk.

Abstract: Colostrum and mature human milk are rich sources of nutrients and contain biologically active molecules that are essential for specific antioxidant functions. The aim of the present study was to determine the activity of copper, zinc superoxide dismutase (CuZnSOD) and manganese superoxide dismutase (MnSOD) activity in different phases of lactation. Specific enzyme activity was determined in colostral milk (3rd-5th days after delivery), and in mature milk in the third week (15-20 days), and the fourth and seventh months of lactation. In the third week of lactation, the activity of CuZnSOD and MnSOD was significantly higher in comparison to the colostral phase. In the fourth month of lactation, the activity of both enzymes was suppressed, while in the seventh month of lactation the MnSOD activity was increased, and the CuZnSOD activity was not significantly changed. These findings show that the activities of superoxide dismutases significantly change during different phases of lactation.

Hepatitis B and measles seroprevalence among Turkish children.

Abstract: This study was performed to determine hepatitis B and measles seroprevalence among the population under 30 years of age in Turkey. Blood samples of 2,683 subjects from eight provinces of Turkey were studied. Measles IgG was determined by hemagglutinin inhibition method, and hepatitits B surface antigen (HBsAg), anti-hepatitis B surface antibody (anti-HBs) and anti-hepatitis B core antibodies (anti-HBc) were determined by ELISA method. Overall seropositivity for measles was found to be 59.6%. There was a significant difference in seropositivity among provinces. The seropositivity was found to increase with age. The overall seropositivities for HBsAg, anti-HBs and anti-HBc were found to be 5.4%, 17% and 15.1%, respectively. The seroprevalences differed significantly among provinces. Although seroprevalence for anti-HBs and anti-HBc increased with age, HBsAg seropositivity did not change significantly after one year of age. Seroprevalence was not affected by sex. It was concluded that every effort should be given to vaccinate infants as early as possible for hepatitis B and that the coverage of infancy measles vaccination should be increased with a second dose.

Brucella melitensis in blood cultures of two newborns due to exchange transfusion

Abstract: Brucellosis is a zoonotic infection, transmitted to humans primarily by consumption of unpasteurized milk and milk products. Transmission by blood transfusion is possible but very unusual. Herewith we present two newborns with positive blood cultures for Brucella melitensis after exchange transfusions. However, the standard tube agglutination titers against Brucella were not elevated and the newborns did not develop brucellosis. It is suggested that, in areas endemic for brucellosis, blood donors should be questioned about symptoms of brucellosis, and if suspected, serological tests for brucellosis should be indicated before blood transfusion. At the same time, the prevalence of the disease among animals should be reduced with effective animal disease control programs.

Cardiac troponin I: is it a marker to detect cardiotoxicity in children treated with doxorubicin?

Abstract: Doxorubicin has been used in the the treatment of malignant tumors in children. Its use is limited by cardiotoxic effects beyond a cumulative dose of 450 mg/m2. To detect cardiotoxicity at an early stage and identify patients at risk for development of cardiotoxicity are matters of concern. Recently, cardiac troponin I (cTnI) has been reported to be useful for detecting minor myocardial damage. In the present study, we investigated whether cumulative doxorubicin-related myocardial cell damage can potentially increase cTnI levels above the expected values in 22 patients treated with cumulative doxorubicin doses of 120 to 450 mg/m2. Impaired cardiac functions were found in three patients by echocardiography, but serum CTnI levels were within the ranges expected in healthy individuals both in patients with cumulative doxorubicin doses > or = 400 mg/m2 and in patients with disturbed cardiac functions. We found no relationship between serum cTnI, cumulative dose of doxorubicin, and echocardiographical findings.

Infant and adolescent deaths in Istanbul due to home accidents.

Abstract: Adolescent and infant deaths due to home accidents pose an important social problem and can be prevented significantly by appropriate measures. The aims of this study about adolescent deaths under the age of 18 and infant deaths due to home accidents were assessment of risk factors and proposals for protective measures. Toward these aims, 414 autopsy reports (Provided by Mortuary Section, Council of Forensic Medicine, Istanbul Turkey, 1996-2000) were reviewed, as well as scene investigation data and information from eyewitnesses. Determination of risk factors, appropriate education, as well as legal regulations for manufacturers of household articles may significantly reduce the number of infant and adolescent deaths due to home accidents.

Use of alendronate in the treatment of vitamin D intoxication in infants

Abstract: Vitamin D intoxication remains a challenging problem due to lack of an efficient treatment. Bisphosphonates, inhibitors of osteoclast-mediated bone resorption, however, have been proposed as a safe and effective alternative in the treatment of vitamin D intoxication. We present here two infants with vitamin D intoxication who were successfully treated with alendronate. We propose that oral alendronate is an alternative to intravenous bisphosphonates in the treatment of vitamin D intoxication in infancy.

Subacute sclerosing panencephalitis (SSPE) associated with congenital measles infection.

Abstract: A 13-month-old male presented with repetitive episodes of myoclonic jerks of the head and extremities for two months. His past medical history revealed that his non-immunized mother had measles at the time of delivery. Measles antibody titers in serum and cerebrospinal fluid (CSF) were 1/512 (hemagglutinin inhibition [HI]) and 1/128 HI, respectively. Immunofixation electrophoresis of CSF revealed an oligoclonal IgG band. The magnetic resonance imaging (MRI) of the brain on T2-weighted images showed lesions of high signal intensity in the subcortical white matter. Electroencephalography (EEG) revealed periodic high-amplitude slow waves. Diagnosis of subacute sclerosing panencephalitis (SSPE) was based upon clinical presentation, a characteristic EEG, and abnormal CSF studies. MRI findings supported the diagnosis. To the best of our knowledge, this is only the 3rd case to date, of SSPE-associated congenital measles in the literature.

Prenatal echocardiographic diagnosis of congenital heart disease: comparison of past and current results.

Abstract: The increased experience in interpretation of fetal echocardiographic images may change the accuracy of fetal echocardiography in diagnosing fetal heart defects. We thus decided to evaluate the specificity and the sensitivity of our fetal echocardiographic examinations in diagnosing congenital heart disease, focusing especially on the outcome of complex cardiac pathologies. Between October 1999 and July 2003, 642 fetuses were followed until birth and underwent a postnatal reassessment of the cardiovascular system in our institution. These cases constitute our cohort. The postnatal reassessment was mainly done by echocardiography; some cases also had angiography. In case of intrauterine or postnatal death, an autopsy was performed. The prenatal and postnatal diagnoses were compared, and specificity and sensitivity of fetal echocardiography for congenital heart pathologies were determined. Among 45 affected pregnancies, 31 cases had complex and 14 had significant cardiac defects. The sensitivity of fetal echocardiography for cardiac anomalies was 93.3%; the specificity was 100%. Compared to our previous study, the sensitivity was remarkably improved (in our previous study sensitivity was 78% and specificity 100%). Echocardiography is a very useful and reliable tool in the evaluation of the fetal cardiovascular system, and has high sensitivity and specificity for congenital heart diseases.

Neutrophil hypersegmentation and thrombocytosis in children with iron deficiency anemia.

Abstract: Neutrophil hypersegmentation is an expected peripheral blood smear finding in megaloblastic anemias. But some clinical reports suggest that neutrophil hypersegmentation may also occur in patients with iron deficiency anemia. In this study we searched the presence of neutrophil hypersegmentation and thrombocytosis in patients with iron deficiency anemia but who had normal serum vitamin B12 and folic acid levels. The study comprised 102 patients with iron deficiency anemia and 21 age-matched healthy controls. All routine tests for iron deficiency anemia were done, serum folate and cobalamin levels were measured, and platelets were counted in all patients and controls. Peripheral blood smears were examined for neutrophil hypersegmentation. Hypersegmentation was found in 30.4% of anemic patients and in 9.5% of controls (p < 0.05). The number of platelets was also significantly higher in anemic children (p < 0.05). These results show that neutrophil hypersegmentation may also be seen in patients with iron deficiency anemia, and thrombocytosis is a common laboratory finding in this disorder.

Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings.

Abstract: We describe the first family report of ARC syndrome (arthrogryposis multiplex congenita, renal dysfunction, and cholestasis) diagnosed in Turkey. ARC syndrome is a rare cause of cholestatic jaundice and skeletal abnormalities in the neonatal period. Fanconi-like renal tubular dysfunction completed the clinical picture. Consanguinity and affected membership are the other typical components of this rare disorder, and possibility of autosomal recessive transmission was considered. A broad spectrum of histopathological abnormalities have been described in the liver and kidney. In this report, we describe two male siblings with ARC syndrome who had cholestatic jaundice, arthrogryposis multiplex congenital-like joint contractures and renal involvement with additional clinical features. Clinical and pathological aspects of the syndrome are discussed and compared with the other cases in the literature.

Maple syrup urine disease-treatment and outcome in patients of Turkish descent in Germany.

Abstract: Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that causes acute and chronic brain dysfunction because of a neurotoxic effect of the accumulating branched chain amino acids (BCAA) and their corresponding keto acids. Aim of the treatment is a rapid reversal of the neonatal decompensation and a stable long-term metabolic control obtained by a carefully adjusted BCAA-low diet. In optimally treated patients, an unimpaired neurological and intellectual outcome is possible. Ten patients of Turkish origin suffering from MSUD are presently treated in the Metabolic Unit of the University Hospital in Dusseldorf, Germany. All patients show mild intellectual deficits; neurological impairment is rare. This paper aims to define the feasible standard of therapy and the resulting intellectual and psychosocial outcome achievable in MSUD patients of Turkish origin under high standard conditions of medical care for inborn errors of metabolism.

Visceral leishmaniasis and pseudomonas septicemia associated with hemophagocytic syndrome and myelodysplasia in a Turkish child.

Abstract: ---> SUMMARY: Sipahi T, Tavil B, Oksal A. Visceral leishmaniasis and pseudomonas septicemia associated with hemophagocytic syndrome and myelodysplasia in a Turkish child Turk J Pediatr 2005; 47: 191-194. An 18-month-old boy presented with fever, hepatosplenomegaly, jaundice, pancytopenia, hyperferritinemia, hypertriglyceridemia and evidence of hemophagocytosis and trilineage myelodysplasia in the bone marrow aspiration. Appropriate treatment was begun but he died after 12 hours of hospitalization due to Gram-negative septicemia. Post-mortem examination of liver biopsy revealed diffuse hemaphagocytic lymphohistiocytosis and Leishmania-donovani

A very rare cause of recurrent apnea: congenital nasopharyngeal teratoma.

Abstract: A three-month-old girl patient born at the 37th week of gestation as one of twins was admitted to our hospital with cardiac arrest. There was past medical history of multiple hospitalizations with symptoms of cyanosis, respiratory distress, and frequent and severe attacks of apnea since her birth. On nasopharyngeal computerized tomography a mass (25x24 mm) occupying the right side of the nasopharynx was detected. The pathological evaluation of the excised mass revealed benign teratoma. After the removal of the nasopharyngeal mass under general anesthesia, respiratory distress and attacks of apnea disappeared completely. In every neonate with unexplained stridor and recurrent apnea, beside the common causes like respiratory distress syndrome, sepsis, and asphyxia, the possibility of oropharyngeal and nasopharyngeal mass should be kept in mind.

Celiac disease screening in 100 Turkish children with Down syndrome.

Abstract:

Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome.

Abstract: We report five-year-old girl with female pseudohermaphroditism due to classical form of 21-hydroxylase deficiency associated with Turner's syndrome (45,X/46,XX) and insulin resistance. She had clitoromegaly since birth, but Turner's syndrome and 21-hydroxylase deficiency were diagnosed incidentally at one and five years of age, respectively. Moreover, we determined insulin resistance, which resolved following corticosteroid therapy for disease. We regard the rare combination as a coincidental occurrence. We stress that adrenal function should be assessed, at least in the presence of clitoral enlargement, in patients with Turner's syndrome, particularly if their karyotype does not contain a Y chromosome. We conclude that chronic hypersecretion of androgen precursors due to an inborn error of metabolism can induce a reduction in insulin sensitivity. Improvement in insulin resistance after treatment of hyperandrogenism has not been previously reported.

Spontaneous rupture of choledochal cyst presenting in childhood.

Abstract: Spontaneous rupture of choledochal cysts is one of the rare complications, and can sometimes be the initial manifestation. It should be considered in the presence of bile-like fluid. A 10-year-old girl had acute onset of abdominal pain, vomiting, and elevated bilirubin, alkaline phosphatase, glutamic oxaloacetic transaminase and glutamic-pyruvic transaminase levels. There was no trauma in her history. In ultrasonography and computed tomography, dilated common bile duct, cystic mass of 10 x 6 cm, and free intraperitoneal fluid in abdominal cavity were demonstrated. Radiological methods, especially intraoperative cholangiography, should be performed for evaluation. We report a case of spontaneous rupture of the choledochal cyst with clinical and radiological findings.

Raine syndrome associated with cytomegalovirus infection.

Abstract: Intracranial calcification, periosteal proliferation and microcephaly, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder named Raine syndrome. This clinical entity has been reported in eight families so far. Here, we report a new patient with clinical features of the Raine syndrome associated with cytomegalovirus infection. Although this may be a chance association only, the condition raised the question of whether early intrauterine CMV infection may contribute to the Raine phenotype.