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A 12-month old boy presented with intractable seizures present since 3-month of age. He had, previously, been admitted numerous times to the pediatric emergency room for intractable and prolonged seizures during the course of his disease. Differential diagnosis was made to exclude several inborn metabolic disorders, including vitamin B6 deficiency, biotinidase deficiency and nonketotic hyperglycinemia. Although the initial brain MRI revealed a mild cerebral and cerebellar white matter involvement, follow-up images showed diffuse cerebral and cerebellar white matter dysmyelination, progressive rarefaction and cystic degeneration. A genetic analysis was performed for vanishing white matter (VWM) disease and a homozygote c. 1091G>A mutation was detected at the EIF2B4 gene. This case emphasizes the fact that VWM disease may present with refractory seizures since early infancy.

Cobalamin C (Cbl C) disease is an inborn error of intracellular cobalamin metabolism. Two distinct clinical types are defined according to the age of onset. We describe an 8 year old girl with late-onset Cbl C disease presenting with neuropsychiatric symptoms. Mutation analysis revealed homozygous c.394C>T (p.R132X) mutation in the MMACHC gene. Serial magnetic resonance imaging (MRI) before and after the treatment are provided. MRI of the brain before treatment showed bilateral patchy focal hyperintensities in the white matter and cortical atrophy. After treatment with intramuscular hydroxycobalamin, oral folinic acid, oral betaine, normalization of MRI findings can be achieved in addition to clinical improvement. We present this case to draw attention to the reversibility of clinical and MRI findings in the late onset Cbl C disease after treatment.

The Rett syndrome (RTT; OMIM #312750) is a rare genetic disease observed predominantly among girls that affects neurological development. The incidence of this disorder is approximately 1 in 10,000 female births. Diagnosis of the RTT is based on specific clinical criteria and the identification of a mutation in the methyl-CpG-binding protein (MECP), which mainly occurs on exons 3 and 4 of the gene. Mutations in the X-linked methyl-CpG binding protein 2 gene (MECP2) are observed in nearly 95% of RTT cases. RTT is associated with considerable genotypic and phenotypic heterogeneity. Recently, it has been observed that mutations in the genes Netrin G1 and cyclin-dependent kinase like 5 (CDKL5) also lead to clinical pictures resembling RTT. In this case report, we describe a 4-years-old female patient who met all the relevant criteria for the diagnosis of RTT. Sequence analyses performed on the patient identified a de novo, heterozygous c.489G>A mutation at exon 4 of the MECP2 gene.

Exome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1 with KATNA1, the catalytic subunit of Katanin, and other microtubule-associated proteins. Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, kat80 loss specifically affects the asymmetrically dividing neuroblasts, which display supernumerary centrosomes and spindle abnormalities during mitosis, leading to cell cycle progression delays and reduced cell numbers. Furthermore, kat80 depletion results in dendritic arborization defects in sensory and motor neurons, affecting neural architecture. Taken together, we provide insight into the mechanisms by which KATNB1 mutations cause human cerebral cortical malformations, demonstrating its fundamental role during brain development., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Elemental mercury exposure occurs frequently and is potentially a toxic, particularly in children. Children are often attracted to elemental mercury because of its color, density, and tendency to form beads. Clinical manifestations of elemental mercury intoxication vary depending on its form, concentration, route of ingestion, and the duration of exposure. We present data on 179 pediatric cases of elemental mercury poisoning from exposure to mercury in schools in two different provinces of Turkey. Of all patients, 160 children had both touched/played with the mercury and inhaled its vapors, while 26 children had only inhaled the mercury vapor, two children reported having tasted the mercury. The median duration of exposure was 5 min (min 1-max 100), and 11 (6 %) children were exposed to the mercury for more than 24 h at home. More than half of the children (51.9 %) were asymptomatic at admission. Headache was the most common presenting complaint. The results of physical and neurological examinations were normal in 80 (44.6 %) children. Mid-dilated/dilated pupils were the most common neurological abnormality, and this sign was present in 90 (50.2 %) children. Mercury levels were measured in 24-h urine samples daily, and it was shown that the median urinary level of mercury was 29.80 μg/L (min, 2.40 μg/L; max, 4,687 μg/L). A positive correlation was also found between the duration of exposure and urinary mercury levels (r = 0.23, p = 0.001). All patients were followed up for 6 months. On the first follow-up visit performed 1 month after discharge, the neurological examinations of all patients were normal except for those patients with peripheral neuropathy and visual field defects. On the last follow-up visit at the sixth month, only two children still experienced visual field defects. In conclusion, this study is one of the largest case series of mercury intoxication of students in schools. Elemental mercury exposure can be potentially toxic, and its symptomatology is variable, particularly in children. Therefore, school staff and children should be aware of the risk of mercury toxicity. Pediatricians also need to warn parents and children about the hazards of playing with any chemical.

The purpose of this study was to evaluate positron emission tomography (PET) findings in patients diagnosed with infantile spasms and autism. This study includes 90 patients who were diagnosed with infantile spasms at the Department of Pediatric Neurology in the Istanbul University Medical Faculty between 1995 and 2007. Of the 90 patients, 15 patients who were diagnosed with autism using the Autism Behaviour Checklist and Childhood Autism Rating Scale and a control group of nine patients without autism but with infantile spasms underwent PET examination. Mean patient age (± standard error, SE) varied between 3 years and 16 years (7.8 ± 4 years), while the mean follow-up time (±SE) varied between 2 years and 16 years (average: 7.1 ± 4 years). Autism was present in 11 patients with symptomatic spasms and in four patients with cryptogenic spasms (p=0.009). On the PET scans of the 15 patients with autism, 13 (86.7%) had significantly decreased metabolic activity in the temporal lobe (p<0.001), nine (60%) had significantly decreased activity in the frontal lobe (p=0.004), and seven (46.7%) had significantly decreased activity in the parietal lobe (p=0.022). In our opinion, hypometabolism in the frontal and parietal lobes, in addition to that previously reported in the temporal lobe, plays a role in the development of autism in patients with infantile spasms., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Objective: To evaluate serum prealbumin levels in chemotherapy-induced hepatotoxicity and to compare them with the other tests that are routinely used in children with cancer., Materials and Methods: We studied serum prealbumin levels before and 1, 3, 7, and 21 days after chemotherapy in addition to other tests (AST, ALT, ALP, total protein, albumin, total and direct bilirubin) in twenty-eight children with cancer receiving various combinations of chemotherapeutics. Serum ALT, AST, ALP, albumin and total and direct bilirubin were determined by enzymatic and photometric methods. Prealbumin was determined by an immunonephelometric method., Results: Total protein and albumin were decreased, AST, ALT, ALP, and total and direct bilirubin levels were increased after chemotherapy and returned to the normal levels on the 21st day of chemotherapy, but these changes were not statistically significant. Prealbumin levels were significantly decreased on the first day of chemotherapy and returned to normal on the 21st day (p=0.001). The sensitivity and specificity of prealbumin were 28.5 % and 66.6 % on the third day and 40.0 % and 73.9 % on the seventh day, respectively. The positive and negative predictive values were 22.2 % and 73.6 % on the third day and 25.0 % and 85.0 % on the seventh day, respectively., Conclusion: Serum prealbumin levels seem not to be a good marker of chemotherapy-induced hepatotoxicity in respect to the other biochemical markers. On the other hand, hepatotoxicity of chemotherapy which may be fatal in severe cases and cessation of the ongoing chemotherapy may be warranted with the early decrease of prealbumin levels but it should be evaluated in larger group of patients before this conclusion (Tab. 4, Fig. 1, Ref. 18).

Aim: To define clinical features of patients with alternating hemiplegia of childhood., Methods: We retrospectively reviewed the clinical presentation and course of the disease in patients diagnosed between January 2003 and December 2008 at the Pediatric Neurology Department of the Istanbul Medical Faculty., Results: The nine patients had a mean age of 6.6 months (2-15 months) at the onset of symptoms. Paroxysmal eye movements were the early symptom of five patients. All patients had recurrent alternating hemiplegic episodes and relief of symptoms while sleeping. Duration of events varied widely from few minutes to several days and was associated with slowly progressive neurological deterioration. Flunarizine might decrease frequency of events but is not effective to neurological deterioration. Amantadine as an alternative agent is used in add-on therapy, but epileptogenic side effect prevented the evaluation of long-term efficacy., Conclusion: Trials on new agents like amantadine are necessary for more effective control of the disease., (© 2011 The Authors. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).)

Purpose: Mutations of the α-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases., Materials and Methods: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty., Results: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416&#95;2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations., Conclusions: Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients.

Background and Purpose: Subacute sclerosing panencephalitis (SSPE) is a persistent infection of the central nervous system by the measles virus. Patients in the initial stages of SSPE show behavioral symptoms and usually normal cranial MR imaging findings. We aimed to investigate the gray matter volume changes in patients with early SSPE., Materials and Methods: Seventeen patients with SSPE with normal cranial MR imaging findings and 30 sex- and age-matched control subjects were included in the study. Clinical parameters of the patients were quantified by using a neurologic disability index (NDI) as defined previously. We obtained T1-weighted magnetization-prepared rapid acquisition gradient echo images from the patients and control subjects, and we applied an optimized method of voxel-based morphometry. We performed a cross-sectional analysis to search the gray matter volume differences between the patients and control subjects. The correlation between the gray matter distribution and the duration of symptoms, immunoglobulin G index, and NDI scores was tested., Results: We found that the cortical gray matter volume of patients was reduced in the frontotemporal regions including the bilateral cingulate cortex and amygdala. There was no correlation between the gray matter distribution of patients and the duration of symptoms or the NDI scores., Conclusions: The current study demonstrated gray matter volume reduction in the frontotemporal cortex of patients with SSPE without any apparent lesions on conventional MR imaging. Because the cingulate cortex and amygdala are involved in emotion processing, gray matter loss in these regions may contribute to the development of early behavioral symptoms of SSPE.

Objective: To present a case in which diffuse cystic bronchiectasis was associated with left microtia/external auditory canal atresia., Clinical Presentation: A 10-year-old girl suffering from cough, fever, dyspnea and sputum for 6 months was transferred to our clinic due to the diagnosis of bronchopneumonia. She had recurrent episodes of bronchopneumonia. On examination, left microtia and left external auditory canal atresia were detected. Thorax CT revealed diffuse cystic bronchiectasis on the left lung. Radiological examination showed atresia of the left external auditory canal. We could not find any etiopathological reason causing bronchiectasis., Intervention: The patient underwent left pneumonectomy and postoperative histopathology was reported as bronchiectasis., Conclusion: This report shows a unique case in which an association of diffuse cystic bronchiectasis and left microtia/external auditory canal atresia was observed. Hence in newborns with microtia and/or external auditory canal atresia, the probability of development of bronchiectasis should be borne in mind and such patients should be followed up more carefully regarding this rare association., ((c) 2008 S. Karger AG, Basel.)

Central nervous system involvement in Epstein-Barr virus infection usually presents as meningitis, encephalitis, or encephalomyelitis, mostly in the acute form of the disease. In chronic active infection, the clinical situation may also resemble acute infection as well findings of chronic inflammation such as calcification. This report presents an 8-year-old female with chronic active Epstein-Barr virus infection and encephalitis complicated by increased intracranial pressure who was managed with repeated lumbar punctures and medical treatment including anti-edema and antiviral therapies.

Guillain-Barré syndrome is an acute inflammatory demyelinating neuropathy characterized by progressive symmetric polyradiculoneuritis, predominantly manifested by weakness and areflexia. In this article, we report our findings in 25 children treated with intravenous immunoglobulin and compare them with the remaining 30 children who received supportive care only. Only supportive care was given to 30 children who were not able to receive intravenous gammaglobulin because of shortcomings in intravenous gammaglobulin availability owing to a poor import during those years. Twenty-five patients were treated with intravenous gammaglobulin; they received intravenous gammaglobulin 0.4 g/kg/day for 5 consecutive days. Seventeen of the intravenous gammaglobulin group had received intravenous gammaglobulin within 10 days after the first symptoms, and eight of them had received intravenous gammaglobulin after the first 10 days. The average time elapsed for the symptoms to reach the maximum level was 6.9 (range 4-12) days in patients receiving intravenous gammaglobulin in the first 10 days, and it was significantly shorter than the time elapsed for the supportive care group (6.9 versus 8.8 days, respectively) (P < .05). Admission to the hospital after the first symptom, disability grade, time to improve in disability grade, the period of hospitalization, and mortality were not different in the intravenous gammaglobulin and supportive care groups (P > .05). Our suggestion for intravenous gammaglobulin treatment in Guillain-Barré syndrome is that if the patient has risk factors for respiratory insufficiency, then the treatment should be started. We more confidently carry out the follow-up of these patients after the results of this study. In conclusion, although it has been reported that intravenous gammaglobulin facilitates improvement in the disease and the decrease in mortality in children with Guillain-Barré syndrome, it has been mentioned in some studies that the intravenous gammaglobulin treatment was not better than supportive care, as in our study. However, further studies are essential to determine when intravenous gammaglobulin should be given to patients having which clinical and laboratory findings.

A previously healthy 8-year-old girl patient was referred with the complaints of severe headache associated with nausea and vomiting. Three weeks prior to her admission, she had measles manifested with fever and typical skin eruptions. Fundoscopic examination revealed bilateral swollen optic discs with tortuous blood vessels. Other physical examinations were unremarkable, except for photophobia. Lumbar puncture demonstrated a cerebrospinal fluid opening pressure of 30 cm H(2)O, no cells, normal levels of glucose and protein. Serum measles immunoglobulin M level was elevated (183 AU). Our further investigations revealed that the patient had pseudotumor cerebri (PTC) following measles infection.

Purpose: To evaluate whether repeated courses of high-dose methylprednisolone (HDMP) affect the lumbar spine bone mineral density (BMD) in children with chronic idiopathic thrombocytopenic purpura (ITP)., Materials and Methods: This study included 24 patients with chronic ITP and 149 healthy controls. The patients were allocated into three groups according to the number of HDMP courses (30 mg/kg per day as a single dose for 7 days); group 1 (10 patients), group 2 (9 patients), and group 3 (5 patients) had received less than 5, 6-10, and more than 10 courses, respectively. Lumbar spine BMD and body composition were measured using dual energy X-ray absorptiometry of lumbar spine (L2-L4), and volumetric bone mineral density (vBMD) values were calculated and compared with the controls. The z score of the vBMD was also calculated and compared in the patients of each other groups. Serum markers of the bone turnover were measured to exclude other factors that could effect BMD., Results: The vBMD values of the patients, corrected BMDs for age, were significantly lower than the values of controls (P = 0.018). It was significantly lower in group 3 than groups 1 and 2 (P = 0.005 and P = 0.006, respectively), but there was no statistically significant difference between groups 1 and 2 (P = 0.87). The vBMD z scores were significantly lower in group 3 than in groups 1 and 2 (P = 0.003 and P = 0.004, respectively), and also in group 2 than in group 1 (P = 0.034). There were a weak negative correlation between the cumulative dose of HDMP and vBMD (r = -0.39, P = 0.054), and strong negative correlation between the cumulative dose of HDMP and vBMD z score (r = -0.63, P = 0.001)., Conclusion: Children with chronic ITP are at risk for decreased BMD because of the repeated courses of HDMP; especially more than 2100 mg of cumulative dose. We therefore recommend that BMD should be monitored in patients with chronic ITP who received repeated courses of HDMP.

Classic Sturge-Weber syndrome is characterized by a facial nevus and hamartomatous lesion in the brain. Hamartomatous lesions are usually located in the ipsilateral occipital region of the facial nevus. The other lobes may be involved. A few cases of Sturge-Weber syndrome without facial nevus have been reported. A 9-month-old male was admitted with the complaint of afebrile seizures two times. We observed the third seizure, which was complex partial, in the clinic. There was no facial hemangioma. On computed tomography and magnetic resonance imaging of the brain we observed findings concordant with the angioma in the right frontoparietal region, although the occipital region was intact. This patient appears to be the first with Sturge-Weber syndrome without facial nevus, and with involvement of the frontoparietal region but not the occipital region. We do not know the embryologic basis of this association.

We retrospectively analyzed 62 cases with neonatal tetanus (NT) seen in the Department of Pediatrics of Ondokuz Mayis University from 1989 to 2001. Epidemiological characteristics and prognostic factors on survival were investigated. We grouped the patients into two groups, the survivors and those who died. All patients were born in non-hygienic conditions, coming from rural regions. None of the mothers had been immunized against tetanus. The mortality rate was 40% (25 of 62 cases) and the only two poor prognostic factors on survival were age younger than five days at onset and the presence of fever. There was no significant difference between the two groups regarding the other known prognostic factors. Although the NT rate is declining, we must continue to protect against it by strictly enforcing preventive policies, especially in rural regions.

Meningitis due to Salmonella is a rare condition. Here we report seven cases with neonatal Salmonella meningitis diagnosed and treated in the Pediatric Neonatology Unit of Ondokuz Mayis University Faculty of Medicine between January 1985-February 2001. Five cases were cured with appropriate treatment; in two of them no neurological sequelae were seen. Of the remaining three, reversible hydrocephalus occurred in two cases and subdural empyema was found in one. Two patients died on the 30th and 40th days of hospitalization: one of them had hydrocephalus and the other ventriculitis. In this report we point out the importance of neonatal meningitis due to Salmonella serotypes, though it rarely occurs.