A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report.

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.

A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.

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.

REVERSIBLE CLINICAL AND MAGNETIC RESONANCE IMAGING FINDINGS IN LATE-ONSET COBALAMIN C DEFECT.

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.

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

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.

Serum prealbumin levels in hepatotoxicity of chemotherapy in children with cancer.

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).

Reduced gray matter volume in the frontotemporal cortex of patients with early subacute sclerosing panencephalitis.

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.

Hepatitis A seroprevalence and its relationship with environmental factors in children of different age groups in Kahramanmaras, Eastern Mediterranean region of Turkey.

Hepatitis A infections are influenced by environmental and socioeconomic factors. Epidemiologic studies regarding hepatitis A virus (HAV) infection in Turkey have not previously examined these factors. We investigated HAV seroprevalence and its association with sociodemographic factors among children of various ages in the Eastern Mediterranean region of Turkey. The study included 1142 children (603 male and 539 female) between ages of 6 months and 18 years. Seropositivity in the whole group was 57.2%. HAV prevalence rates according to age groups were as follows: 35.5% in 6-23 months group, 19.2% in 2-5 years group, 74.3% in 6-10 years group, 83.0% in 11-14 years group, 92.8% in 15-18 years group. Risk factors that influenced seropositivity were; dense population, over-crowded families, excessive number of siblings, low socioeconomic status and low education of the mother. As HAV seroprevalence in children older than 6 years of age is high, we recommend hepatitis A vaccination in this region after the first year of life.