Serum nerve growth factor levels in autistic children in Turkish population: a preliminary study.

BACKGROUND & OBJECTIVES: It has been hypothesized that abnormal levels of serum nerve growth factor (NGF) may represent a serological marker for autistic children who may develop cognitive impairment, regression and finally epilepsy. The objective of this preliminary study was to measure serum NGF concentrations of autistic children and compare these levels with those of healthy children. METHODS: Consecutive children who were referred to the Paediatric Neurology and Child Psychiatry Policlinics of Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Turkey between February and September 2008 were included in the study. Serum samples were analyzed for NGF levels using ChemiKine NGF Sandwich ELISA Kit. Comparisons between the study and the control groups were made using student's t test and Chi-square test. RESULTS: Forty-nine autistic children and an equal number of healthy children (control group) were included in the study. No significant difference was found between the study and the control groups in terms of children's age, while number of boys was significantly higher (P<0.05) in the study group. Average serum NGF concentrations were 46.94 ± 51.40 and 32.94 ± 12.48 pg/ml in the study and control group, respectively. Serum NGF concentrations were significantly higher (P<0.05) in the study group compared with the control group. INTERPRETATION & CONCLUSIONS: Our preliminary findings show that enhanced serum NGF concentration may be used as a potential diagnostic tool in autism, however, further studies including a large number of patients are required to confirm the findings.

Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population.

Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy that is characterized by macrocephaly and a slowly progressive clinical course. It is one of the most commonly reported leukoencephalopathies in Turkey. Mutations in the MLC1 gene are the main cause of the disease. We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confirmed mutations in the MLC1 gene. The mutation in the second patient was novel. We also review identified mutations in the Turkish population.

Effect of nutritional support in children with spastic quadriplegia.

Malnutrition is a common problem in patients with cerebral palsy. We evaluated the effect of nutritional support on clinical findings in children with spastic quadriplegia. Feeding history, numbers of lower respiratory tract infections, and gastrointestinal and neurologic findings were evaluated via questionnaire. Weight, height, head circumference, midarm circumference, and triceps skinfold thickness were measured. Height for age, weight for age, weight for height, body mass index, and weight and height z-scores were calculated. Clinical findings and anthropometric parameters were re-evaluated after nutritional support for 6 months. Forty-five patients were enrolled. No difference was evident between the first and the last height z-scores of 31 patients who completed the follow-up. Weight, height, weight z-scores, weight for age, weight for height, body mass index, midarm circumference, and triceps skinfold thickness exhibited improvement. Moreover, a significant decrease in number of infections was evident. Frequency of seizures and Gross Motor Function Classification System status did not change. Constipation decreased significantly. Nutritional therapy revealed improvements in some anthropometric findings and a decrease in number of infections. Although there was no difference regarding motor development or seizure frequency, further studies with a longer follow-up are required.

Role of apolipoprotein E in febrile convulsion.

Apolipoprotein E is consistently associated with the progression of some common human neurodegenerative diseases, e.g., epilepsy. We hypothesized that genetic variations in the apolipoprotein E gene have implications for susceptibility to, and prognoses in, febrile convulsion, which plays an apparent role in the development of epilepsy. We used the polymerase chain reaction and restriction enzyme digestion to characterize variations of the apolipoprotein E gene. Sixty-nine patients with febrile convulsion (simple/complex) and a corresponding cohort of healthy patients (n = 75) were used. There was no significant difference in genotypic distribution and allelic frequencies of the apolipoprotein E gene between the febrile convulsion and control groups. Comparing subpopulations of the febrile convulsion group (patients with simple and complex febrile convulsion), we noted that no patients with the epsilon3/epsilon4 genotype had complex febrile convulsions. The apolipoprotein E epsilon3/epsilon4 genotype was more frequently seen in the simple febrile than in the complicated febrile convulsion group (9 versus 0 patients, respectively). The data indicate an association with the epsilon3/epsilon4 genotype of the apolipoprotein E gene with a milder phenotype. Although apolipoprotein E4 is not a vulnerability factor regarding febrile convulsions, it seems effective in regard to prognoses.

Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

Canavan disease is a neurodegenerative disease with autosomal recessive inheritance. Although this disease is prevalant among Ashkenazi Jewish population, several cases have been reported from all over the world. Canavan disease is caused by a genetic mutation in aspartoacylase gene. We have identified a novel mutation, a homozygous C432+1G>A mutation, in a 10-month-old boy who has a typical Canavan phenotype (without macrocephaly) accompanied by typical brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS) and diffusion magnetic resonance findings. The patient's mother was found to be heterozygous for this mutation. We believe that future studies of aspartoacylase gene in various ethnic groups could lead to a better understanding of Canavan's pathophysiology and gene therapy.

Topiramate as a long-term therapy in children with refractory epilepsy.

OBJECTIVE: To evaluate the long-term efficacy, safety, and retention rate of topiramate (TPM) in childhood refractory epilepsies. METHODS: This study was designed as a single-center, retrospective study. Children with refractory epilepsy who has been followed in Behcet Uz Children`s Hospital, Izmir, Turkey, between 2003 and 2007 were included in the study. RESULTS: The study population consisted of 43 boys (60.6%), and 28 girls (39.4%) aged between 2-18 years. Mean age was 8.83 (SD: 3.77) and mean duration of epilepsy was 3.89 (SD: 1.51) years. There were 41 children (57.7%) with mental retardation. Twenty-seven children had generalized epilepsy, and 44 children had localization-related epilepsy. Fifty-one children (71.8%) showed a good response to initial treatment. The retention at a mean of 32 months was 31 out of 71 children (43.6%), and approximately 18 children (25.3%) were seizure free. A loss of efficacy in long-term use occurred in 17 (33.3%) of initial responders. Adverse events were seen in 20 children (28.1%). There were no significant differences between the groups who continued and discontinued TPM treatment in long-term use. CONCLUSION: As a result, it was determined that the drug was more effective and well tolerated in localization-related epilepsies, on long-term follow up.

A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy.

Wolf-Hirschhorn syndrome is defined by a collection of core characteristics that include mental retardation, epilepsy, growth delay, and craniofacial dysgenesis. The disorder is caused by subtelomeric deletions in the short arm of chromosome 4. The syndrome, as described in the literature, may have a progression to resistant seizures and status epilepticus, which may then exhibit specific electroencephalographic findings. This study investigates a 3-year-old girl presenting with the classic phenotype for Wolf-Hirschhorn syndrome, confirmed by fluorescence in situ hybridization. Here we describe and discuss this patient, who initially presented with myoclonic seizures but then had a progression toward resistant epilepsy, along with electroencephalographic findings specific to Wolf-Hirschhorn syndrome.

Efficacy of continuous midazolam infusion and mortality in childhood refractory generalized convulsive status epilepticus.

PURPOSE: Continuous midazolam infusion is commonly used for the management of status epilepticus (SE). The purpose of this study was to assess the efficacy of midazolam and mortality in childhood refractory generalized convulsive SE. METHODS: We included 27 children with refractory generalized convulsive SE. Midazolam was given 0.2 mg/kg as bolus, followed by 1-5 microg/kg/min as continuous infusion. Clinical data and response to treatment were recorded for each patient. RESULTS: Acute symptomatic SE accounted for 52%, and central nervous system (CNS) infections were the most frequently associated etiologic condition (44%). Complete control of seizures was achieved with midazolam infusion in the 26 (96%) children within 65 min; at a mean midazolam infusion rate of 3.1 microg/kg/min. Adverse effects such as hypotension, bradycardia or respiratory depression did not occur during midazolam infusion. In one (4%) patient with acute meningoencephalitis, SE could not be controlled. Five (19%) patients died; four had acute symptomatic aetiology and one had progressive encephalopathy. CONCLUSION: Midazolam is effective and safe in the control of refractory generalized convulsive SE. The response to treatment and mortality were related to the underlying aetiology.

Sydenham's chorea: clinical findings and comparison of the efficacies of sodium valproate and carbamazepine regimens.

BACKGROUND: Sydenham's chorea is still the most frequently seen form of acquired chorea in childhood in developing world despite the use of antibiotics. It is a debilitating illness lasting for weeks or months and requires drug therapy. OBJECTIVE: To evaluate and compare the efficacies of sodium valproate and carbamazepine in the treatment of the choreiform movements in Sydenham's chorea. DESIGN: A prospective trial carried out with 24 children with Sydenham's chorea. PATIENTS: Twenty-four patients were divided into two groups having similar demographic and clinical properties. One group (n = 17) was given carbamazepine (15 mg/kg per day) and the other (n = 7) was given sodium valproate (20-25 mg/kg per day). As soon as the symptoms were taken under control, doses of the drugs were tapered slowly. The duration of the drug use was recorded. The time of response to therapy was compared between the groups and the patients were monitored for the adverse effects. RESULTS: There was no significant difference between the groups with respect to the time of clinical improvement and time of complete remission, duration of the therapy and the recurrence rates. Clinical improvement began by 8.0 +/- 4.0 days in sodium valproate and 7.4 +/- 8.2 days in carbamazepine group (P = 0.88). In the whole group no adverse effect was seen due to the drugs. CONCLUSION: Carbamazepine and valproic acid are equally effective and safe drugs in the treatment of choreiform movements in Sydenham chorea.

Late-onset distal polyneuropathy due to acute organophosphate intoxication case report.

Intoxications due to organophosphate insecticides are common in our country, since agriculture has an important place. Besides the well known acute cholinergic toxicity, these compounds may cause late-onset distal polyneuropathy occurring two to three weeks after the acute exposure. An eight-year-old boy and a 13-year-old girl admitted to the hospital with gait disturbances. Beginning 15 and 20 days, respectively, after organophosphate ingestion. Neurologic examination revealed bilateral dropped foot, absent Achilles tendon reflexes and peripheral sensory loss. Electromyography demonstrated motor weighed sensory-motor polyneuropathy with axonal degeneration significant in the distal parts of bilateral lower extremities. Biochemical, radiological findings and magnetic resonance imagings were normal. The two cases were taken under a physiotherapy program. The two cases are presented here since organophosphate poisonings are common in our country, and since late-onset polyneuropathy is not a well known clinical presentation as acute toxicity.

Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy.

We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.

Comparison of the effectiveness of topiramate and sodium valproate in pediatric migraine.

Frequent migraine headaches can have a significant impact on disability, prompting the need for early recognition and treatment. The objective of this study is to compare the efficacy of topiramate and sodium valproate for the prevention of pediatric migraine, retrospectively. Mean monthly migraine frequency, intensity, and duration in the 28 patients treated with topiramate decreased from 15.3 +/- 10.1 to 4.4 +/- 5.5 episode, from 6.8 +/- 1 to 3.2 +/- 1, and from 10.2 +/- 9.4 to 2.4 +/- 3.1 hours, respectively. Headache disability improved with a reduction of Pediatric Migraine Disability Assessment score from 36 +/- 29.5 to 4.6 +/- 6.5 (P < .05). Similarly, mean monthly headache frequency, headache intensity, headache duration, and Pediatric Migraine Disability Assessment score in the 20 patients treated with sodium valproate decreased from 20.1 +/- 10.2 to 6.6 +/- 8.6, from 7.1 +/- 1 to 3.4 +/- 2.1, from 7 +/- 12 to 1.4 +/- 2.5 hours, and from 20.5 +/- 16.1 to 5.5 +/- 9.2, respectively (P < .05). In conclusion, valproate and topiramate seem to be able to manage successfully childhood migraine without substantial differences in efficacy.

Multiple cavernous malformations with supravermian arachnoid cyst.

Cerebral cavernous malformation are congenital vascular abnormalities that have been reported in 0.4% of the population; they represent 5-13% of all cerebrovascular malformations. Onset of cerebral cavernous malformations may be associated with seizures, intracranial hemorrhages, focal neurological deficit or migraine-type headaches. Some patients may require surgical intervention due to hemorrhage. Multiple cavernomas in childhood have been reported in the literature, but they are rare. This manuscript presents a 12-year-old girl with multiple cavernomas accompanied by supravermian arachnoid cyst detected by neuroimaging techniques. This is the first report that demonstrates a case of pediatric multiple cavernous malformation coexisting with arachnoid cyst of the supravermian cistern.