Kürşat Bora Çarman

Serum biochemical markers of central nerve system damage in children with acute elemental mercury intoxicatıon

Objective. Acute mercury intoxication among children can occur through unintentional exposure, and neurotoxicity is one of the main findings in acute exposures. In this study, we aimed to study the central nerve system markers, namely neuron-specific enolase (NSE), S100B, and glutamate receptor (GRIA 1) levels and discuss the mechanisms of central nerve system damage and whether these parameters could be used as markers of acute elemental mercury intoxication neurotoxicity. Materials and methods. This is a case-control study which includes 169 children with acute elemental mercury intoxication, who were exposed to mercury in the school laboratory from a broken jar, and 45 sex- and age-matched controls without mercury exposure. Patient group were divided into three subgroups according to the neurological examination performed during the admission. Neuropathy Group included the children with neurological symptoms including peripheral neuropathy and decreased muscle strength (n = 39) (with or without dilated pupils). Dilated Pupil Group included the children who had mid-dilated/dilated pupils (n = 52). Asymptomatic Exposure Group included the children who did not have any neurological symptoms (n = 78). Serum NSE, S100B, GRIA 1, blood, and urine mercury levels were determined. Results. NSE, S100B, GRIA 1, and blood mercury levels were significantly higher in exposed group than the nonexposed subjects (Median values NSE 22.4 ng/mL, 17.2 ng/mL; S100B 0.09 ng/mL, 0.08 ng/mL; GRIA 1 70.6 pg/mL, 54.1 pg/mL, and blood mercury 15.2 μg/L, 0.23 μg/L for exposed and nonexposed groups, respectively). GRIA 1 levels found to differ between exposed and nonexposed groups and it has also been found to be increased in the subgroups with positive neurological findings compared to that in neurological finding negative groups. S100B levels were found to be increased in exposed and having neurological symptom groups. There was not a significant difference between exposed-not having neurological symptom patients and control group. NSE levels were found to be higher in all subgroups when compared to those in controls, however there was not a significant difference between the subgroups. Conclusion. Serum NSE, GRIA 1, and S100B were increased with mercury exposure. GRIA 1 and S100B levels were observed to have the power to discriminate neurological symptom positive and negative groups. The increase in S100B levels are thought to be protecting the neurons and preventing further NSE elevations.

Clinical, Radiological, and Genetic Survey of Patients With Muscle-Eye-Brain Disease Caused by Mutations in POMGNT1

BACKGROUND To evaluate clinical, genetic, and radiologic features of our patients with muscle-eye-brain disease. METHODS The data of patients who were diagnosed with muscle-eye-brain disease from a cohort of patients with congenital muscular dystrophy in the Division of Pediatric Neurology of Dokuz Eylül University School of Medicine and Gaziantep Childrens Hospital between 2005 and 2013 were analyzed retrospectively. RESULTS From a cohort of 34 patients with congenital muscular dystrophy, 12 patients from 10 families were diagnosed with muscle-eye-brain disease. The mean age of the patients was 9 ± 5.5 years (2-19 years). Mean serum creatine kinase value was 2485.80 ± 1308.54 IU/L (700-4267 IU/L). All patients presented with muscular hypotonia at birth followed by varying degrees of spasticity and exaggerated deep tendon reflexes in later stages of life. Three patients were able to walk. The most common ophthalmologic and radiologic abnormalities were cataracts, retinal detachment, periventricular white matter abnormalities, ventriculomegaly, pontocerebellar hypoplasia, and multiple cerebellar cysts. All of the patients had mutations in the POMGNT1 gene. The most common mutation detected in 66% of patients was c.1814 G > A (p.R605H). Two novel mutations were identified. CONCLUSIONS We suggest that muscle-eye-brain disease is a relatively common muscular dystrophy in Turkey. It should be suspected in patients with muscular hypotonia, increased creatine kinase, and structural eye and brain abnormalities. The c.1814 G > A mutation in exon 21 of the POMGNT1 gene is apparently a common mutation in the Turkish population. Individuals with this mutation show classical features of muscle-eye-brain disease, but others may exhibit a milder phenotype and retain the ability to walk independently. Congenital muscular dystrophy patients from Turkey carrying the clinical and radiologic features of muscle-eye-brain disease should be evaluated for mutations in POMGNT1 gene.

An infant with trisomy 15 mosaicism.

Introduction Conceptions with autosomal trisomies are usually aborted spontaneously in the first trimester of pregnancy. Trisomy 15 accounts for 7.6% of all trisomic abortions and 1.68% of all first-trimester pregnancy losses (Prontera et al., 2006). Few cases of mosaic trisomy 15 in liveborn infants have been reported (Codwell et al., 1981; Stallard and Sommer, 1989; Kuller and Laifer, 1991; Lahdetie and Lakkala, 1992; Fryns et al., 1993; Bühler et al., 1996; Milunsky et al., 1996; Zaslav et al., 1998; Olander et al., 2000; Prontera et al., 2006). We report here the clinical features of an infant with mosaicism for trisomy 15.

Expression patterns of micro-RNAs 146a, 181a, and 155 in subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis is caused by persistent brain infection of mutated virus, showing inflammation, neurodegeneration, and demyelination. Although many factors are emphasized in the pathogenesis of subacute sclerosing panencephalitis, the exact mechanism of neurodegeneration remains unknown. Micro-RNAs are small, noncoding RNAs that regulate gene expression at the posttranscriptional levels. Micro-RNAs are essential for normal immune system development; besides they are also implicated in the pathogenesis of many chronic inflammatory disorders. The aim of this study is to investigate the expression patterns of micro-RNAs 146a, 181a, and 155 in peripheral blood mononuclear cells of patients with subacute sclerosing panencephalitis. We enrolled 39 patients with subacute sclerosing panencephalitis and 41 healthy controls. Quantitative analysis of micro-RNAs 146a, 181a, and 155 were performed using specific stem-loop primers followed by real-time polymerase chain reaction. All of 3 micro-RNAs were upregulated in subacute sclerosing panencephalitis patients. In addition, the level of micro-RNA 155 expression was higher in stage 3 patients. But, micro-RNA 146a and 181a expression levels showed no association or correlation with clinically relevant data. Alteration of peripheral blood mononuclear cell micro-RNAs in subacute sclerosing panencephalitis may shed new light on the pathogenesis of disease and may contribute to the aberrant systemic rise in mRNA levels in subacute sclerosing panencephalitis.

Involuntary movements misdiagnosed as seizure during vitamin B12 treatment.

Seizures and epilepsy are a common problem in childhood. Nonepileptic paroxysmal events are conditions that can mimic seizure and frequent in early childhood. Nonepileptic paroxysmal events can be due to physiological or exaggerated physiological responses, parasomnias, movement disorders, behavioral or psychiatric disturbances, or to hemodynamic, respiratory, or gastrointestinal dysfunction. Vitamin B12 deficiency is a treatable cause of failure to thrive and developmental regression, involuntary movements, and anemia. Involuntary movements rarely may appear a few days after the initiation of vitamin B12 treatments and might be misdiagnosed as seizure. Here, we report 2 patients who presented with involuntary movements with his video image.

Concurrent protracted febrile myalgia syndrome in a child with diabetic ketoacidosis.

Familial Mediterranean Fever (FMF), characterized by recurrent attacks of inflammation in predominantly serosal and synovial membranes, is caused by MEFV gene mutations resulting in abnormal pyrin. Protracted febrile myalgia syndrome (PFMS), a kind of vasculitis requiring corticosteroid treatment, is associated with M694V mutation of MEFV gene. Here, we report a case where the patient developed PFMS leading to the diagnosis of FMF concurrently at the time of treatment for diabetic ketoacidosis (DKA) of new‐onset type 1 diabetes mellitus and discuss the possible mechanisms of simultaneous DKA and FMF‐associated PFMS. DKA‐associated cytokine release may be a predisposing factor or trigger for FMF‐associated PFMS.

A case of acute post-streptococcal glomerulonephritis that developed posterior reversible encephalopathy syndrome.

A 10-year male patient presented with swelling in the face, legs and scrotal area which developed 8 days after tonsillitis treatment. Acute post-sterotococcal glomerulonephritis (APSGN) was considered in the patient whose urinalysis revealed hematuria and proteinuria at nephrotic level, whose urea, creatinine, lipid profile and anti-streptolysine O antibody levels were increased, albumin and C3 value were decreased and whose 24-hour urine test revealed proteinuria. Renal biopsy was found to be compatible with APSGN. In the follow-up, severe headache, vomiting and convulsion were observed under antihypertensive and diuretic treatment and when the blood pressure was 130/80 mmHg (the 99(th) percentile for the patient: 129/88 mmHg). During the follow-up, the blood pressure values increased to 160/90 mmHg. The electroencephalogram (EEG) performed was found to be normal and magnetic resonance imaging (MRI) findings were compatible with posterior reversible encephalopathy syndrome (PRES). MRI was found to be normal at the first month following antihypertensive and anticonvulsive treatment. In the first year of the follow-up, the blood pressure, neurological examination and urinalysis findings were found to be normal. This patient was presented to draw attention to the fact that PRES can also present with a blood pressure tending to increase and with blood pressure values which are not so high.

Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria.

l-2-Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Clinical findings are characterised by progressive neurological syndrome with cerebellar signs, mental deterioration and macrocephaly. Diagnosis is via increased levels of l-2 hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. Brain magnetic resonance imaging (MRI) shows peripheral white matter abnormalities in cerebral hemispheres, basal ganglia and dentate nuclei. In this report, we present an rare 8-year-old patient with a rare mental retardation, cerebellar findings, macrocephaly and typical brain MRI findings, who was subsequently diagnosed with l-2-hydroxyglutaric aciduria. In conclusion, in patients with progressive mental retardation, macrocephaly and cerebral findings, l-2-hydroxyglutaric aciduria should be considered in case of deep white matter and dentate nuclei involvement in MRI.

Restless leg syndrome in children with celiac disease

Işıkay S, Işıkay N, Per H, Çarman KB, Kocamaz H. Restless leg syndrome in children with celiac disease. Turk J Pediatr 2018; 60: 70-75. Celiac disease (CD) is an immune-mediated enteropathy triggered by ingestion of dietary gluten in genetically predisposed individuals. The aim of the study was to determine the prevalence of restless leg syndrome (RLS) in children with CD and to investigate the associated factors for RLS. Totally 494 children with the ages ranging between 11-18 years were included. Among those, 226 were under follow-up with CD and constituted the study group while other 268 children did not have any symptoms or signs associated with CD and established the control group. The demographic data, educational status and routine laboratory data of children including complete blood count, ferritin, vitamin B12, foliate and 25 (OH) vitamin D levels were recorded. The RLS prevalence and associated symptoms of children were defined with a questionnaire. There was no statistically significant difference between the 2 groups regarding the age and gender. Moreover, RLS prevalence was also similar in both groups (3.5% vs 3.0% in CD and control groups, respectively, p=0.98). However, interestingly, in CD group, the mean age of the patients at the onset of RLS symptoms was statistically significantly younger (p=0.02) and the disease was more severe (p=0.026) than the control group. In correlation analysis in CD group, the RLS severity significantly negatively correlated with serum ferritin, folic acid or 25 (OH) vitamin D levels in Celiac disease group. In this study we did not determine an increased prevalence of RLS in children with CD. However, in CD group, the age at the onset of RLS symptoms was significantly younger and the disease was more severe in CD group compared with the control cases.

Management of vertigo in children

Çocukluk çağında vertigo ender görülen bir yakınmadır. Çocukluk döneminde vertigo sıklığı %5,7 olarak bildirilmiştir. Çocukluk çağında baş dönmesi sıklığı değerlendirilirken küçük çocukların baş dönmesini sözel olarak söyleyemeyebileceği ve daha önceden bilmedikleri bu duruma ağlayarak, korkarak tepki gösterebileceği dikkate alınmalıdır. Vertigoda dönme hareketi söz konusudur. Sersemlik, kendini kötü hissetme benzeri yakınmalar vertigo olarak kabul edilmemelidir. Vertigo santral veya periferik nedenlerden kaynaklanabilir. Çocuklarda benign paroksismal vertigo, vestibüler migren en sık vertigo nedenleridir. Çocukluk çağı baş dönmesi yakınmasıyla başvuran bir hastanın değerlendirmesinde ilk aşamada olayın akut ve tekrarlayan olup olmadığı, başlama zamanı, şiddeti belirlenmelidir. Hastaların fizik ve nörolojik muayeneleri yanı sıra odyolojik değerlendirmeleri de gereklidir. Tedavi planlaması altta yatan nedene göre yapılmalıdır.