Eray Dirik

RELATIONSHIP OF EPILEPSY-RELATED FACTORS TO ANXIETY AND DEPRESSION SCORES IN EPILEPTIC CHILDREN

Cognitive and behavioral impairments are found more often among epileptic children than among their peers. In this study, we evaluated the anxiety and depression in epileptic children to compare their results with that of a healthy control group and to determine the relationship of anxiety and depression scores to epilepsy-related factors. The State Trait Anxiety Inventory (STAI) and Childrens Depression Inventory (CDI) were applied to 35 patients with epilepsy aged 9 to 18 years (mean age 12.9 ± 2.52 years) and to 35 healthy children who served as the control group. Both study and control groups were divided into two age groups (9 to 11 and 12 to 18 years) to exclude the effect of puberty on anxiety and depression scores. Significant depression and suicidal ideation were determined in the study group. The mean trait anxiety score was significantly higher in the 9- to 11-year age group of epileptic patients than the corresponding control group (35.90 ± 6.90 and 29.33 ± 2.84, P < .05). The mean state anxiety score (33.90 ± 3.90 and 30.40 ± 6.02, P <.05), trait anxiety score (38.20 ± 6.84 and 32.20 ± 3.90, P < .05), and depression score (16.65 ± 8.32 and 8.15 ± 3.15, P < .05) were significantly higher in the 12- to 18-year age group of epileptic children than in the control group. Among the epilepsy-related factors, whereas epilepsy duration, seizure frequency, and polytherapy were determined to increase anxiety and depression, age of seizure onset, seizure type, and electroencephalographic findings were not related to anxiety and depression. Symptoms of anxiety and depression are common among epileptic children, especially during puberty. The State Trait Anxiety Inventory and Childrens Depression Inventory may be used as a tool to provide information to clinicians. (J Child Neurol 2002;17:37-40).

Prevalence and clinical findings of migraine and tension-type headache in adolescents.

Background: The majority of previous studies on headache in children and adolescents have focused mainly on migraine. There is a paucity of population‐based studies investigating the prevalence of tension‐type headache (TTH). The objectives of the present study were to estimate the prevalence of migraine and TTH in adolescents using the 2004 International Headache Society (IHS) criteria and to determine the sociodemographic and clinical differences between the migraine and TTH.

Mycoplasma pneumoniae: nervous system complications in childhood and review of the literature

Mycoplasma pneumoniae is an important pathogen which causes nervous system disorders during or after the course of a respiratory tract infection. The exact pathogenic mechanism which causes neurological disorders still remains unknown. Although meningoencephalitis and acute disseminated encephalomyelitis are common complications, there are few cases of acute transverse myelitis and isolated abducens nerve palsy associated with M. pneumoniae infection in childhood. The association between ocular myasthenia gravis and M. pneumoniae infection has not been described before. Here, we describe five patients with different nervous system complications associated with M. pneumoniae infection and discuss the pathological features of central nervous system involvement.

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is due to mutations in MTM1 and involves a severe and generalized muscle weakness at birth. The autosomal dominant form results from DNM2 mutations and has been described with early childhood and adult onset (ADCNM). Autosomal recessive centronuclear myopathy (ARCNM) is less characterized and has recently been associated to mutations in BIN1, encoding amphiphysin 2. Here we present the first clinical description of intrafamilal variability in two first-degree cousins with a novel BIN1 stop mutation. In addition to skeletal muscle defects, both patients have mild mental retardation and the more severely affected male also displays abnormal ventilation and cardiac arrhythmia, thus expanding the phenotypic spectrum of BIN1-related CNM to non skeletal muscle defects. We provide an up-to-date review of all previous cases with ARCNM and BIN1 mutations.

Carbamazepine and valproic acid: effects on the serum lipids and liver functions in children.

We aimed to determine the effects of carbamazepine, which induces liver microsomal enzymes, and valproic acid on the serum lipids and liver function test results in epileptic children. Thirty-eight epileptic children (18 males, 20 females, mean age 8.6 +/- 3.9 years) were evaluated for serum lipids and liver function test results at the onset and the second and sixth months of antiepileptic therapy. The results of the children receiving carbamazepine (n = 31) and valproic acid (n = 7) were compared. In addition, the values obtained at different periods of treatment were compared within each group. The differences in the serum lipid levels and liver function test results of the children in the carbamazepine group and the valproic acid group were not statistically significant throughout the study. However, the total cholesterol, low-density lipoprotein, total cholesterol/high-density lipoprotein, and gamma glutamyl transferase levels were significantly increased in the carbamazepine group during treatment (P < 0.05) but not in the valproic acid group. Carbamazepine treatment alters the serum lipid profile of the children in such a way that it facilitates the development of atherosclerosis. Valproic acid does not alter the levels of the serum lipids.

Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI)

The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI) (OMIM 225400) is an inherited connective tissue disorder characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Biochemically, it is characterized by a deficiency of collagen lysyl hydroxylase (EC 1.14.11.4) due to mutations in PLOD1. This deficiency results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl pyridinoline (HP) crosslinks excreted in the urine. Because of hypotonia and delay in gross motor development, a neuromuscular disease is usually suspected, and in most cases the diagnosis is considered only very late, after performing an invasive neuromuscular work-up with normal results. We report a 12-month-old boy with kyphoscoliosis and delayed gross motor development, in whom the differential diagnosis of kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI) was initially suspected and successively confirmed by the abnormal urinary ratio of total pyridinolines (LP to HP), and by mutation analysis. We advocate the analysis of urinary pyridinolines in all infants with severe hypotonia which is highly specific and sensitive, quick and inexpensive.

Effects of epilepsy and valproic acid on oxidant status in children with idiopathic epilepsy

The aim of this study is to evaluate the erythrocyte lipid peroxidation and antioxidant enzyme levels in patients with newly diagnosed idiopathic epilepsy before treatment and in patients treated with valproic acid for idiopathic epilepsy. Twenty-four patients with newly diagnosed idiopathic epilepsy, 24 patients treated with valproic acid for idiopathic epilepsy and 21 healthy children were included in the study. Malondialdehyde as an indicator of lipid peroxidation and antioxidants enzymes including superoxide dismutase and glutathione peroxidase were measured in the erythrocytes. The levels of malondialdehyde were significantly lower and activity of superoxide dismutase was insignificantly higher in patients with newly diagnosed epilepsy. Glutathione peroxidase levels did not differ between the groups. During treatment with valproic acid, lipid peroxidation increased but did not reach pathological levels. There was a positive correlation between superoxide dismutase activity and duration of valproic acid treatment. In conclusion, oxidant-antioxidant status is impaired in patients with primary idiopathic epilepsy and scavenger systems are activated to decrease lipid peroxidation. Valproic acid which is frequently used in childhood epilepsy may modify the balance between oxidant and antioxidant systems.

Evaluation of serum lipids and carotid artery intima media thickness in epileptic children treated with valproic acid

The aim of this study is to evaluate the carotid artery intima media thickness and serum lipids in pediatric patients with epilepsy treated with valproic acid. The study included 44 pediatric epileptic and 40 healthy children. Intima media thickness of left common carotid artery and fasting lipid profile (total cholesterol, triglycerides, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol) were assessed. Although we did not observe any differences regarding serum lipid profiles, intima media thickness of common carotid artery was significantly higher in epileptic patients treated with valproic acid. We suggest that this increase in intima media thickness of common carotid artery may be due to epilepsy and/or valproic acid treatment.

Oxcarbazepine in the treatment of childhood epilepsy

In this study, oxcarbazepine was began as monotherapy to evaluate the efficacy and safety of the drug. Forty-two patients (19 females, 23 males) with partial or generalized epilepsy more than 4 years of age were included (mean age, 11.9 +/- 3.4 years). The mean age at epilepsy onset 8.9 +/- 4 years. Complete blood count, liver function tests, electrolytes, lipid levels, electrocardiography, electroencephalography, and magnetic resonance imaging were performed in all patients. Oxcarbazepine dose was begun at 10 mg/kg/day twice daily and increased to 30 mg/kg/day at the end of the second week. Patients with inadequate seizure control even with the dose of 45 mg/kg/day or intolerable side effects were excluded. Intolerable headache and leukopenia led to discontinuation of the drug in two patients. At the sixth month, 35 of the patients (87.5%) were seizure free (91.7% of the generalized epilepsy patients and 81.2% of the partial epilepsy patients). The most frequent tolerable side effect was drowsiness in 12 patients. As a result, we found oxcarbazepine safe and effective in children with either generalized or partial epilepsy.

Sturge-Weber syndrome without facial nevus

An 11-month-old patient with Sturge-Weber syndrome with the absence of facial angioma and normal mental development is presented. Noncontrast computed tomography revealed left parieto-occipital atrophy with heavy gyriform calcifications. Axial T(2)-weighed magnetic resonance imaging confirmed the presence of low-signal areas corresponding to the gyral calcifications evident on computed tomography. Contrast-enhanced T(1)-weighted axial and coronal images exhibited high signals in the left parieto-occipital cortical and subcortical areas, representing angiomatous malformations. The clinical appearance and pathologic features of the reported patient were compared with those of similar patients described in published reports.