Alev Güven

Magnetic resonance imaging in diagnosis of childhood central nervous system tuberculosis.

AbstractBackground: We investigated the role of magnetic resonance imaging (MRI) in diagnosis of central nervous system (CNS) tuberculosis. Patients and Methods: The MRI findings (T1, T2 and T1 sequence after contrast) of 11 children with CNS tuberculosis were evaluated and the diagnostic value of contrast enhanced MRI and its correlation with the clinical findings were investigated. Results: The median age of the patients was 6 years; seven were male and four female. MRI findings of the cases were meningeal enhancement (90.9%), hydrocephalus (63.6%), infarction (45.5%), tuberculomas (27.2%), cranial nerve involvement (27.2%) and severe cortical atrophy (9.1%). MRI provided early diagnosis in two cases by demonstrating tuberculomas, and supported the diagnosis in seven cases. However, in two cases MRI findings were inadequate to diagnose CNS tuberculosis, especially at the beginning. Conclusion: Contrast enhanced MRI is a very useful technique for diagnosing CNS tuberculosis, particularly by demonstrating the localized lesions, meningeal enhancement and the brain stem. However, a family history of tuberculosis, chest X-ray findings and the clinical picture are still very important for diagnosis.

Valproate-Associated Coagulopathies in Children During Short-Term Treatment

Valproic acid is one of the most frequently prescribed antiepileptic drugs for the therapy of generalized and focal epilepsies. Valproate induces a variety of hemostatic disorders such as thrombocytopenia, abnormal platelet function, hypofibrinogenemia, and decreased concentrations of von Willebrand factor, and it rarely causes serious bleeding complications. It may also lead to atherosclerosis and thrombosis. However, there is still lack of knowledge about the incidence and occurrence of these particular side effects. In this prospective systematic study, we assessed the early effects of sodium valproate on both pro- and anticoagulatory factors, homocysteine, and lipoprotein (a) in 24 newly diagnosed epileptic children treated with valproate. Valproate causes decreased factor VII levels, platelet count, factor VIII, Protein C, fibrinogen, and increased lipoprotein (a) levels. To the best of our knowledge, our report is the first in the medical literature, which describes that valproate significantly reduces factor VII levels even during short-term therapy.

Refractive Errors and Strabismus in Children With Down Syndrome: A Controlled Study

PURPOSE To evaluate the prevalence of refractive errors, strabismus, nystagmus, and congenital cataract in children with Down syndrome and control subjects of similar age. METHODS Seventy-seven children with Down syndrome and 151 control subjects were evaluated for the prevalence of ocular findings. RESULTS Ocular findings were discovered in 97.4% of children with Down syndrome and 42.4% of control subjects (P < .0001). The point prevalence of nystagmus, strabismus, hypermetropia, astigmatism, and congenital cataract was significantly higher in children with Down syndrome (P < .0001 for the first four categories, and P < .01 for congenital cataract). CONCLUSION Evaluation, treatment, and regular review of ocular and refractive findings in children with Down syndrome is urgently needed.

Refractive errors and ocular findings in children with intellectual disability: A controlled study

PURPOSE To evaluate the ocular findings and refractive errors in children with intellectual disability and in controls of average intellectual development of similar socioeconomic backgrounds. METHODS The study was conducted at Diskapi Childrens Hospital in Ankara, Turkey: 724 subjects with intellectual disability and 151 control subjects were evaluated. The subjects with intellectual disability were subdivided into mild (IQ 50-69, n = 490), moderate (IQ 35-49, n = 164), and severe (IQ <34, n = 70) groups, and syndromic (n = 138) versus nonsyndromic (n = 586) disability. All children underwent cycloplegic autorefraction or retinoscopy, slit-lamp biomicroscopy, and dilated fundus examination. Ocular alignment was assessed by Hirschberg, Krimsky, or prism cover test. The main outcome measure was the prevalence of refractive errors and ocular findings. RESULTS Seventy-seven percent of subjects with intellectual disability, and 42.4% of controls, had ocular findings. The children with intellectual disability had significantly more nystagmus, strabismus, astigmatism, and hypermetropia than controls. Children with syndromic intellectual disability had significantly more nystagmus, strabismus, astigmatism, and hypermetropia than subjects with nonsyndromic intellectual disability. Increasing severity of intellectual disability was related to higher prevalence of nystagmus, strabismus, astigmatism, hypermetropia, and anisometropia. CONCLUSIONS From a public health perspective, evaluation and treatment of ocular and refractive findings in children with moderate, severe, and syndromic intellectual disability categories is urgently needed and likely to be highly effective in alleviating future health and social care costs, as well as improving the productive lives of individuals with intellectual disability.

The correlation between headache and refractive errors

PURPOSE To compare the prevalence of refractive errors in patients with headache and a control population. METHODS Three hundred ten patients with headache and 843 controls were retrospectively evaluated. Complete ophthalmologic examination was performed in the headache group. Autorefraction was performed in all participants (with cycloplegia under 10 years of age). Myopia was defined as the spherical equivalent refraction of at least -0.50 D, hyperopia as the spherical equivalent refraction of at least +2.0 D, and astigmatism as the cylinder of at least 1.0 D. Main outcome measures were refractive error, anisometropia, and previous miscorrection of refractive error. Chi-square and Students t-tests were used for statistical analysis. RESULTS Total prevalence of refractive errors was higher in the headache group (p = 0.002). The rate of astigmatism was higher in the headache group (p < 0.0001), while that of myopia and hyperopia were similar in both groups (p = 0.74, p = 0.79, respectively). The rates of compound and mixed astigmatism were higher in the headache group (p = 0.026, p < 0.001, respectively). The rates of anisometropia and previous miscorrection of refractive error were higher in the headache group (p < 0.0001 for both). Children with headache have a statistically significant increased risk of total refractive errors (OR = 1.57, 95% CI: 1.18-2.07), anisometropia (OR = 9.59, 95% CI: 5.72-16.1), and miscorrection of refractive error (OR = 9.57, 95% CI: 5.43-16.9). CONCLUSIONS Compound and mixed types of astigmatism, anisometropia, and miscorrection of refractive error were found more often in patients with headache than in control subjects.

Differences in iron deficiency anemia and mean platelet volume between children with simple and complex febrile seizures

OBJECTIVE The relationship between iron deficiency anemia and febrile seizures (FSs) were examined in several studies before. The aim of our study is to find out the differences regarding iron deficiency anemia, demographic characteristics and mean platelet volume (MPV) which is an inflammatory marker between simple and complex febrile seizure groups. METHODS In this study, the authors investigated the recordings of 493 children with a diagnosis of simple and complex febrile seizure, aged between 6 months and 6 years, followed between 2002 and 2010 retrospectively. RESULTS Mean age and male/female ratio were similar in two groups. There was no significant difference regarding with age, gender and family history of FS between two groups. We found significant difference statistically with respect to gestational age, consanguinity, family history of epilepsy and birth weight between two groups. The mean levels of Hb, Htc, MCV were lower and Plt and RDW levels were higher in children with CFS than SFS group, the differences were statistically significant (p: 0.001). A higher proportion of children with CFS (16.2%) had iron deficiency anemia compared to SFS group (12.1%). Mean platelet volume (MPV) of CFS (7.99±0.96fL) were significantly lower than that of SFS group (8.77±0.75) (p<0.001). CONCLUSIONS The results of this study suggests that iron deficiency anemia is more frequently seen among the patients with CFS than the patients with SFS. The lower levels of MPV as an inflammatory marker, supports the idea that CFS is a brain inflammatory disease and the consequence of this inflammatory mechanism is the development of the epilepsy. Further studies are necessary to highlight the relationship between iron metabolism, inflammation and seizures.

Phakomatosis pigmentovascularis with Sturge-Weber syndrome: a case report.

We describe here a Turkish girl with pigmentovascularis type 2b, consisting of disseminated Mongolian‐spot‐like maculae and unilateral Sturge‐Weber angiomatosis.

Recurrent COLQ mutation in congenital myasthenic syndrome.

Congenital myasthenic syndromes comprise clinically and genetically heterogeneous disorders resulting from presynaptic, synaptic, or postsynaptic defects. Mutations in the COLQ gene result in acetylcholinesterase deficiency and cause a rare, autosomal recessive synaptic form of congenital myasthenic syndrome, with variable age of onset and clinical severity. We present four unrelated patients with a homozygous W148X mutation in the COLQ gene. Signs began at birth in all, but subsequent severity ranged from independent ambulation to wheelchair use during childhood. Treatment was partly effective; one patient was asymptomatic with 3,4-diaminopyridine treatment. These cases illustrate the clinical features and treatment results associated with this particular genotype, which appears to be relatively frequent among Turkish patients with congenital myasthenic syndrome.

Refractive errors in neurofibromatosis type 1 and type 2

Objective: To document the prevalence of refractive errors in patients with neurofibromatosis type 1 (NF1) and type 2 (NF2) and to compare it with that of age- and sex-matched controls. Methods: 82 patients with NF1, 21 patients with NF2 and 103 age- and sex-matched controls were evaluated in this prospective observational case–control study. Cycloplegic autorefraction and dilated fundus examination were performed. Myopia was defined as the spherical equivalent refraction of at least −0.50 diopters (D), hyperopia as the spherical equivalent refraction of at least 2.0 D and astigmatism as the cylinder of at least 1.0 D. Main outcome measures were refractive error, IQ, years of education, height, weight and body mass index (BMI). Results: The prevalence of myopia was 23.1% in patients with NF1, 23.8% in patients with NF2 and 16.5% in age- and sex-matched controls. These differences were significant (p<0.03, p<0.03), and adjusting for intelligence, education, height, weight and BMI increased the significance of this finding (p<0.001, p<0.001). The prevalences of astigmatism and hyperopia were similar in both groups. Conclusion: A high prevalence of myopia seems to be an additional feature of NF1 and NF2.

Pseudotumor cerebri/idiopathic intracranial hypertension in children: An experience of a tertiary care hospital

OBJECTIVE Pseudotumor cerebri (PTC) is diagnosed at increasing rates probably due to the increase in obesity prevalence all over the world and awareness about the disease. Our aim in this study was to evaluate the PTC clinical picture and etiological factors in children at the present time. METHOD The records of 53 patients with 32 females, who were diagnosed with PTC in a child neurology department between the years of 2005 and 2012 were retrospectively analyzed. RESULTS The mean age at presentation was 10.9 years (3-17 years) and approximately half of patients were aged of 11 years or less. While more than half of prepubertal patients were male, girls rate reaches 74% at puberty. An etiological factor such as venous sinus thrombosis, infections, anemia, steroid discontinuation, drugs, slit ventricle syndrome and minor head injury causing the PTC was identified in 43% of the patients. The mean duration of treatment was 6.4 months (3-24 months) and the mean follow-up duration 16.5 months (3-52 months). Visual field constriction was moderate in only two pubertal and obese female patients and mild in four patients. CONCLUSIONS PTC is seen in prepubertal children as often as in puberty. An etiological factor causing PTC is present in about half the patients in childhood. The main etiological factors of the disease currently consist of cranial venous thrombosis, infections, anemia and drugs. Malnutrition, renutrition and related vitamin deficiencies or excesses commonly seen previously have become less important in PTC etiology. PTC is a disease that requires long-term treatment and follow-up but the prognosis is good in patients who are diagnosed early, receive appropriate treatment and show good compliance with the treatment.