Dilara İçağasıoğlu

Cerebral hemiatrophy (Dyke-Davidoff-Masson syndrome) in childhood : Clinicoradiological analysis of 19 cases

Background: The purpose of this study was to emphasize the clinical and imaging findings of 19 child cases of cerebral hemiatrophy.

Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers

The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas—middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients’ clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.

Psychotic disorder in a case with Hallervorden–Spatz disease

Objective: Hallervorden–Spatz disease is a rare autosomal recessive condition, with early onset of predominantly extrapyramidal dysfunction. The symptoms of the disease are dystonia, rigidity, choreoathetosis, pyramidal signs, and intellectual decline. Recent genetic studies mapped the disease to chromosome 20p12.3‐p13, and identified mutations in the pantothenate kinase gene. This report describes a childhood onset case of Hallervorden–Spatz disease with schizophreniform psychotic symptoms. Former reports about the psychiatric comorbidity generally included depressive disorder.

Asymptomatic hypercalciuria : Prevalence and metabolic characteristics

Hypercalciuria is of continuing interest as a risk factor for kidney stones in children. We screened 592 healthy Turkish children (308 boys, 284 girls, aged 3 month-16 years) for hypercalciuria by measurement of urinary calcium/creatinine (UCa/Cr) ratio in the second-morning urine samples. Hypercalciuria was noted in 17 children (2.9 %), 9 of them were boy and 8 of them were girl. Oral calcium-loading test could only be done in 7 children who were diagnosed as having hypercalciuria, and it revealed absorptive hypercalciuria in 2 cases and renal hypercalciuria in no cases. The frequency of a family history of urolithiasis in asymptomatic hypercalciuric children was 50%. Median UCa/Cr ratios and urinary magnesium/creatinine (UMg/Cr) ratios were 0.11 and 0.10 and the 97th percentiles were 0.32 and 0.23 respectively. The UCa/Cr ratio in second-morning urine samples was correlated with the UMg/Cr ratio (r = 0.44) and was independent of age and sex.

Effect of long-term carbamazepine therapy on serum lipids, vitamin B12 and folic acid levels in children.

Serum triglycerides, total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), very low-density lipoprotein cholesterol (VLDL-C), vitamin B12 and folic acid levels were studied in 16 children with epilepsy who had been receiving carbamazepine (CBZ), and in 16 healthy children. Our purpose was to determine whether there was any effect of CBZ therapy on serum lipids, vitamin B12 and folic acid levels. Age ranged from 5 to 19 years (12.25 +/- 3.79 years) and 5.5 to 18 years (12.16 +/- 3.53 years) in the study and control groups, respectively. The duration of CBZ therapy in the patients was between 1 and 4.5 years (3.01 +/- 1.04 years). Serum CBZ level varied between 4 and 12 microg/ml (6.26 +/- 2.07 microg/ml). There was no statistically significant difference in serum triglycerides, TC, HDL-C, LDL-C, VLDL-C or vitamin B12. However, mean folic acid level was found to be lower in the study group than that of the control group (p < 0.05). Nonetheless, serum folic acid levels were within the normal range in all patients. Our study demonstrated that CBZ therapy does not affect serum lipids, vitamin B12 and folic acid levels, and may safely be used with regard to these parameters in children.

The prevalence and outcomes of thrombocytopenia in a neonatal intensive care unit: a three-year report.

Neonatal thrombocytopenia is one of the most common hematologic disorders in neonatal intensive care units (NICUs). The purpose of this study was to determine the prevalence of thrombocytopenia and whether thrombocytopenia has an effect on the occurrence of intraventricular hemorrhage (IVH) ≥ grade 2 and on mortality rate. This study was carried out retrospectively in neonates admitted to NICU of Cumhuriyet University in Sivas, Turkey, between 2009 and 2012. Among 2218 neonates evaluated, 208 (9.4%) developed thrombocytopenia. The prevalence of IVH ≥ grade 2 was more in infants with thrombocytopenia (7.2%) than in those without thrombocytopenia (4.4%), although this was not statistically significant (P = .08). In univariate analysis, IVH ≥ grade 2 was higher in cases with very severe thrombocytopenia (35.7%, n = 5) than in those with mild (2.1%, n = 2), moderate (4.7%, n = 3), and severe thrombocytopenia (15.2%, n = 5) (P = .04). Multivariate logistic regression analysis showed that birth weight <1500 g (OR 6.2, 95% CI 3.4–9.8; P = .0001), gram-negative sepsis (OR 2.5, 95% CI 1.8–4.2; P = .01), very severe thrombocytopenia (OR 1.3, 95% CI 1.1–2.1; P = .03), and platelet transfusion ≥2 (OR 7.3, 95% CI 4.1–12.1; P = .001) were significant risk factors for mortality. The results of our study suggest that outcomes of neonates with thrombocytopenia depend not only on platelet count but also on decreased gestational age or birth weight, prenatal factors, and sepsis.

Combined genetic defects in a child with ischemic stroke: Case report

A 10-year-old Turkish boy was admitted with mild right spastic hemiplegia. First, he experienced sudden numbness and weakness in the right extremities at the age of 2 years and was diagnosed with right hemiparesis. His parents were generally healthy and nonconsanguineous. His mother suffered from deep vein thrombosis of the left lower extremity during pregnancy and had recurrent fetal loss. At the age of 10 years, a thrombophilia marker examination revealed that plasma-free protein S was 49.3% (normal range = 70-123%), and factor VIII level was found to be 470 IU/dL (normal = 150 IU/dL). The patient and his two siblings were found to be heterozygous for factor V Leiden mutation. His mother was also heterozygous for factor V Leiden mutation and had protein S deficiency A combination of protein S deficiency, factor V Leiden mutation, and a high level of factor VIII was detected in our patient. After his first attack at the age of 2 years, in spite of no prophylaxis, he did not experience any other ischemic insult. To our knowledge, this is the first patient with these combinations of genetic defects and ischemic stroke to be reported in the literature. (J Child Neurol 2002;17:533-534).

A Case of Acrodermatitis Enteropathica

Acrodermatitis enteropathica is a rare hereditary disorder affecting zinc metabolism that is characterized by dermatitis, alopecia, gastrointestinal disturbances, eye infections, and growth failure. We report a 17‐month‐old girl with acrodermatitis enteropathica. Physical examination showed a cutaneous eruption consisting of vesiculobullous and psoriasiform skin lesions symmetrically distributed in the perioral, acral, and perineal areas. Her plasma zinc level was decreased (75 μg/dl), but within the normal range (60.00–135.00 μg/dl). The patient was given zinc sulfate 50 mg/day. At the end of two months, she had significantly improved.

Magnetic resonance spectroscopy and diffusion-weighted imaging findings in a child with Leigh's disease.

Leigh’s syndrome is a rare inherited metabolic neurodegenerative disease due to a mitochondrial enzyme deficiency that can potentially occur in any site of the enzyme pathway for respiratory metabolism. The disease usually affects infants and children; adult onset cases have been described occasionally. Leigh’s disease usually has involvement of the periaqueductal gray matter, the basal ganglia (particularly the putamina) and the white matter. 1,2 We present a 4-year-old girl with this disorder.

Serum leptin levels in children receiving long-term carbamazepine.

In this article we studied serum leptin levels in children receiving long-term carbamazepine (CBZ) therapy (mean 3.4 years) to determine whether or not there was a relationship between serum leptin level and CBZ therapy. The study includes 14 patients followed with the diagnosis of epilepsy and treated long term CBZ, and 19 healthy children. Only two (14%) patients complained about overeating and weight gain. We did not find any significant difference for age, sex, body mass index and serum leptin levels between the study and control groups (p > 0.05). If a markedly weight gain was seen in the study group, a higher levels of serum leptin could be expected. Additionally, there was not a relationship between serum leptin and CBZ levels (r: 0.48; p > 0.05). Our preliminary findings showed that long-term use of CBZ did not cause markedly weight gain in childhood and serum leptin levels did not differ from the control subjects. We think that more extensive studies should be performed about this subject.