Role and Clinical Significance of Plasma N-Terminal Brain Natriuretic Peptide Measurement in Children with Brain Edema.

OBJECTIVE: Brain natriuretic peptide (BNP) is a potent natriuretic and vasodilator factor. BNP plasma concentrations were found to be elevated in patients with brain edema. The purpose of the present study is to evaluate the relationship between plasma NT-proBNP concentration and the presence of brain edema in patients with intracranial pathology. MATERIALS AND METHODS: The plasma NT-proBNP levels of 50 patients and 25 healthy subjects were measured. The NT-proBNP levels of the patient group were measured during admission and after 7 days of treatment. RESULTS: NT-proBNP plasma concentrations were found to be significantly higher in the patient group with brain edema than in the control group (p < 0.005). There were no significant differences in the NT-proBNP plasma concentrations between patients with intracranial pathology without brain edema and the control group (p > 0.005). NT-proBNP plasma concentrations were found to be significantly higher in patients with brain edema as compared with patients without brain edema before treatment (p < 0.005). CONCLUSION: These results suggest that excessive secretion of plasma NT-proBNP is related to brain edema. Plasma NT-proBNP levels may serve as a marker to guide the early-diagnostic and therapeutic management in children with brain edema. Further studies are required to evaluate the role of BNP in brain edema pathophysiology.

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Alström syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alström Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alström Syndrome and contribute to genotype-phenotype correlation studies.

Novel Alu retrotransposon insertion leading to Alström syndrome.

Alström syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and pulmonary, hepatic, and renal failure. Alström syndrome is caused by recessively inherited mutations in the ALMS1 gene, which codes for a putative ciliary protein. Alström syndrome is characterized by extensive allelic heterogeneity, however, founder effects have been observed in some populations. To date, more than 100 causative ALMS1 mutations have been identified, mostly frameshift and non-sense alterations resulting in termination signals in ALMS1. Here, we report a complex Turkish kindred in which sequence analysis uncovered an insertion of a novel 333 basepair Alu Ya5 SINE retrotransposon in the ALMS1 coding sequence, a previously unrecognized mechanism underlying the mutations causing Alström syndrome. It is extraordinarily rare to encounter the insertion of an Alu retrotransposon in the coding sequence of a gene. The high frequency of the mutant ALMS1 allele in this isolated population suggests that this recent retrotransposition event spreads quickly, and may be used as a model to study the population dynamics of deleterious alleles in isolated communities.

A rare cause of poisoning in childhood: yellow phosphorus.

BACKGROUND: Yellow phosphorus poisoning is rare, but when it occurs, it may result in pathological changes in almost all organs of the body, especially the liver, heart, kidney, spleen, and brain, and it has a significant mortality rate. OBJECTIVES: This report presents two cases of poisoning by yellow phosphorus in children. Yellow phosphorus ingestion rarely has been reported among the pediatric population. CASE REPORT: This report presents two cases of yellow phosphorus poisoning in children. The patients were admitted with upper abdominal pain, vomiting, lethargy, and respiratory distress. Laboratory testing revealed hepatotoxicity and coagulation disorder. Yellow phosphorus poisoning was treated with conservative therapy in both patients, and one patient died. CONCLUSION: Yellow phosphorus poisoning is a rare clinical entity and should be considered a dangerous toxic ingestion in children.

[A retrospective investigation of clinical and laboratory findings in children with acute rheumatic fever, reactivation and compliance with prophylaxis]. / Akut romatizmal atesli çocuklarda klinik ve laboratuvar bulgularin geriye dönük olarak incelenmesi: Reaktivasyon ve koruyucu tedaviye uyumunun arastirilmasi

OBJECTIVES: We aimed to retrospectively investigate the patients with acute rheumatic fever (ARF) by evaluating their clinic and laboratory properties, echocardiographic findings as well as the reactivation and the compliance to penicillin prophylaxis. STUDY DESIGN: The study involved 255 patients (143 boys, 112 girls; mean age 10.1±2.7 years) with ARF. Their sex, age, clinic and laboratory properties, echocardiographic findings, the reactivation and the compliance to penicillin prophylaxis were recorded. RESULTS: Patients spent 13.3±4.3 days in the hospital, and 94 had a history of ARF. Arthritis was found in 233 patients, carditis in 166, Sydenham's chorea in 14, subcutaneous nodule in 2, and arthritis-carditis in 151 patients. Erythema marjinatum was not found in any patient. Arthralgia (n=15) and fever (n=246) were found in patients. Throat culture was positive in 94 patients and anti-streptolysin-O titers were high in 124 patients. Mitral involvement was found in 205 patients while the combination of mitral and aortic valve involvement were observed in 118 patients. CONCLUSION: ARF still continues to be a major public health problem in our country. A bad prognosis may be prevented by early diagnosis and treatment. The importance of appropriate prophylaxis should also be emphasized.

P300 auditory event-related potentials in children with obesity: is childhood obesity related to impairment in cognitive functions?

OBJECTIVE: To investigate alterations in P300 auditory event-related potentials in children with obesity to detect changes in cognitive functions. METHOD: A total of 50 children with obesity and 23 age- and sex-matched healthy control subjects were included in the study. Laboratory tests were performed to detect dislipidemia and insulin resistance (IR). The latencies and amplitudes of P300 waves were measured in healthy and obese subjects with or without IR. The oddball paradigm was used in recordings of P300 auditory event-related potentials. RESULTS: A significant difference was observed between groups regarding latency and amplitude of P300 component obtained from central (Cz) electrode. The grand means of P300 latency were longer, and amplitude decreased significantly in obese group compared to that of healthy controls. When the obese group was divided into two different subgroups, those with IR and without IR, the grand means of P300 latency were longer and the amplitude decreased significantly in subjects with IR compared to those without IR. CONCLUSION: Both decreased amplitude and prolonged latency of P300 are associated with IR in children with obesity, which shows the impairment of neural activity associated with sensory and cognitive information processing in these children. Further studies are necessary to strengthen the current findings and to determine the exact mechanism of cognitive impairment in obese children.

A rare cause of severe periorbital edema and dermonecrotic ulcer of the eyelid in a child: brown recluse spider bite.

Spider bites are a worldwide problem. Brown recluse spider bites can lead to severe local or systemic clinical effects, such as edema, necrotic ulcer, rashes, fever, chills, nausea, vomiting, malaise, arthralgia, myalgia, hemolysis, leukocytosis, disseminated intravascular coagulation, renal failure, and death. Eyelid bites from brown recluse spiders are rare. We report a child with severe facial edema and a dermonecrotic ulcer on the eyelid. Upon laboratory examination, leukocytosis with a significant left shift was detected. The patient was treated with antibiotics, systemic corticosteroid and conservative therapy that included saline compresses and ocular lubrication. No surgical excision was required. Vision was not impaired. A dermonecrotic ulcer is a severe complication of brown recluse spider bites. Since the diagnosis is difficult, clinical and epidemiological findings and a detailed history are important for an accurate diagnosis.

Brainstem involvement in subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE), which usually develops 2-10 years after measles infection, is a progressive neurologic disorder with an insidious onset. The neurologic dysfunctions associated with SSPE include generalized myoclonic jerks and seizure activity, and progression of the disease usually results in coma and death within one to two years after onset. Most of the cerebral lesions in SSPE are observed in the periventricular and subcortical white matter. Brainstem involvement in SSPE is very rare. In this paper, we report two cases with brainstem involvement in SSPE that was accompanied by other intracranial lesions with magnetic resonance imaging (MRI). These two patients died in a short time. Thus, brainstem involvement should be considered in patients with SSPE.

Elevated plasma levels of N-terminal pro-brain natriuretic peptide in children with acute poststreptococcal glomerulonephritis.

Acute poststreptococcal glomerulonephritis (APSGN) is the most common prototype of acute glomerulonephritis in children, and is characterized by the sudden onset of gross hematuria, edema, hypertension and volume overload. Brain natriuretic peptide (BNP) is produced in both the brain and the heart. Its prohormone, proBNP, is cleaved to biologically active BNP and an inactive N-terminal peptide of proBNP (NT-proBNP). NT-proBNP is released predominantly from the ventricles in response to hypervolemia and pressure overload. We therefore investigated the relationship between NT-proBNP levels and cardiac functions of patients with APSGN. NT-proBNP levels were measured in 28 patients with APSGN (17 boys and 11 girls of 8.2 +/- 2.9 years old) and in 26 healthy children (control group). Echocardiograms were performed in both patient and control groups on admission, and only in the patient group two weeks later. Upon admission, the plasma NT-proBNP levels were higher in the patients than in the control group (8876.2 +/- 9650.8 vs 69.5 +/- 22.2 pg/mL, p < 0.001), and left ventricular dysfunction was detected in six patients. Moreover, NT-proBNP levels were significantly higher in the patients with left ventricular dysfunction than other patients (n = 22). There was no significant difference in the levels of NT-proBNP between the patient and control groups, after diuretic treatment of the patients. Plasma NT-proBNP levels were positively correlated with the severity of APSGN. Thus, NT-proBNP level may be a useful marker to assess the volume overload and cardiac function in the follow up of selected APSGN patients.

An unusual cause of gastrointestinal bleeding and severe anemia in a child: leech infestation.

A 1-year-old boy with epistaxis, gastrointestinal bleeding and severe anemia that caused cardiorespiratory distress presented to our unit. The results of coagulation tests were normal. An erythrocyte suspension transfusion was given to the patient. On the second day of his hospitalization, a leech was removed from his nose. In developing countries, leech infestation should be considered in cases where epistaxis, hematemesis, gastrointestinal bleeding and severe anemia are of unknown origin.

Diameters of normal thoracic vascular structures in pediatric patients.

PURPOSE: To determine the normal range of aortic and pulmonary artery diameters on chest CT, and to search a constant ratio when the diameters of thoracic vascular structures are compared with an internal reference. METHODS: Contrast-enhanced chest CT scans of 133 pediatric patients were retrospectively evaluated. Diameters of ascending and descending aorta, main pulmonary artery, right and left pulmonary arteries and a constant thoracic vertebra were measured. The mean ratios of thoracic vascular diameters to the diameter of the thoracic vertebra were calculated. RESULTS: There was a positive correlation between the age of the patients and vascular diameters. The mean ratios of vascular diameters to the diameter of thoracic vertebra, ranged from 1.1 for the ascending aorta to 0.70 for the right and left pulmonary arteries, were consistent. CONCLUSIONS: Diameters of thoracic vascular structures increase with age. The consistent vertebral to vessel ratios can be useful in evaluation of chest CT of pediatric patients.

Clinical and cranial magnetic resonance imaging (MRI) findings of 21 patients with serious hyperbilirubinemia.

This study aims to compare neurological examination and cranial magnetic resonance imaging (MRI) findings in patients with serious hyperbilirubinemia. Twenty-one serious hyperbiluribinemic term neonates (6 girls, 15 boys) who underwent exchange transfusions were included in the study. Neurological examination findings, body weight, age at admission, blood culture, urine culture, urine analysis, C-reactive protein, thyroxine, thyroid-stimulating hormone, total and indirect bilirubin levels, causes of hyperbilirubinemia (blood group typing, glucose-6-phosphate dehydrogenase, blood smear, tandem mass), treatment and duration of follow-up, auditory test results, and cranial MRI findings were evaluated. All patients were term neonates with an average body weight of 2943 +/- 533 g. The mean age at admission was 4.47 +/- 2.22 days, and the mean bilirubin level was 35.0 +/- 10.8 mg/dL. Exchange transfusion was performed once in all, except 4 patients who needed 2 transfusions. Kernicterus findings were found in 76% of patients on neurological examination, and cranial MRI detected a pathological finding in 71% of patients. In 2 patients, cranial MRI showed kernicterus findings, despite normal neurological examination. In contrast, in 3 patients, despite kernicterus findings in neurological examination, cranial MRI was normal. Although cranial MRI has an important place in the diagnosis of kernicterus, it does not always correlate with clinical findings. We believe that studies with larger series are warranted.

A rare cause of hyperbilirubinemia in a newborn: bilateral adrenal hematoma.

Hyperbilirubinemia is an important health problem in newborns. The most common causes are Rh and ABO incompatibility, hemolytic anemias, enzyme deficiencies, sepsis, hypothyroidism, pyloric stenosis and breast-milk jaundice. Adrenal hemorrhage is a rare cause of hyperbilirubinemia in the neonate. We present a six-day-old newborn with hyperbilirubinemia and suprarenal hematoma who was born at home without assistance of healthcare personnel. Adrenal hematoma should also be considered in the differential diagnosis of hyperbilirubinemia, particularly in newborns that experienced a difficult delivery.

Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.

Talo-Yildirim T, Acun-Kaya F, Taskesen M, Dündar S, Bozoglan A, Tekin GG, Akdeniz S. Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree. Turk J Pediatr 2017; 59: 56-61. Kindler syndrome (KS) is a rare genetic disorder. The clinical features include aggressive periodontal disease and severe desquamative gingivitis. Five individuals with KS were assessed by oral examination, radiographic analysis and periodontal measurements. All the patients' indexes were recorded prior to periodontal treatment and at the end of the 1th, 3th , 6th, 9th and 12th month respectively. All the patients had improvement of periodontal status and enhancement in index scores. The affected individuals were previously screened for FERMT1 mutations. KS patients' periodontal disease activity could be taken under control with regular follow-up.

Cranial magnetic resonance imaging findings of nutritional vitamin B12 deficiency in 15 hypotonic infants.

BACKGROUND: Nutritional vitamin B(12) deficieny is common among infants in the developing and underdeveloped countries. There is limited information concerning neuroimaging findings in infants with vitamin B(12) deficiency in the literature. AIMS: The aim of this study is to evaluate the cranial magnetic resonance imaging (MRI) changes and clinical characteristics of hypotonic infants due to vitamin B(12) deficiency. MATERIALS AND METHODS: A total of 15 infants with neuroradiologic investigations were diagnosed with nutritional B(12) vitamin deficiency. Cranial MRI was performed on all infants. RESULTS: Five infants were female (33%) and the mean age of infants was 12.3 ± 5.5 months. Hypotonia and neurodevelopmental retardation were present in all patients. MRI demonstrated thinning of the corpus callosum in 6 (40%), cortical atrophy in 5 (33.3%), large sylvian fissures in 5 (33.3%), ventricular dilatation in 3 (20%), asymetric large lateral ventricle in 2 (13.3%) and delayed in myelination in 2 (13.3%) patients. Four infants had normal MRI findings. CONCLUSION: Because of the importance of vitamin B(12) in the development of the brain, MRI findings may be detected and useful in infants with vitamin B(12) deficiency.