Ozgur Duman

Interleukin-1α, Interleukin-1β, and Interleukin-1Ra Polymorphisms in Febrile Seizures

Febrile seizures are the most common form of childhood seizures. The exact mechanism promoting convulsions during a common febrile illness remains unknown, but it is accepted that genetic influences are likely to account for at least some of the cases. Previous studies reported high interleukin-1β levels in the cerebrospinal fluid of patients with febrile seizures. Recently, an association between a regulatory polymorphism in the genes encoding interleukin-1β and interleukin-1Ra and febrile seizures was reported. In this study, we attempted to confirm these findings. We analyzed the cytokine gene polymorphisms of interleukin-1β, interleukin-1α, and interleukin-1Ra of 73 children with febrile seizure and 152 healthy controls. The distribution of interleukin-1β —511, interleukin-1α —889, and interleukin-1Ra genotypes and alleles did not differ significantly between cases and controls. Our data suggest that the studied gene polymorphisms of interleukin-1β, interleukin-1α, and interleukin-1Ra do not have a significant role in the pathogenesis of febrile seizures. (J Child Neurol 2005;20:565—568).

Bone metabolism markers and bone mineral density in children with neurofibromatosis type-1

Some experimental studies suggested that there may be a bone formation defect rather than a disorder in bone resorption in patients NF1. The aim of this study was to determine bone mineral density (BMD) with dual-energy X-ray absorptiometry (DEXA) and investigate specific bone formation and bone resorption and bone turnover markers in children with NF1. Thirty-two children and adolescents (16 boys, 16 girls; 16 prepubertal, 16 pubertal) with NF1 were recruited. Their age ranged from 3 to 17 years. They were compared with matched healthy children. Dual-energy X-ray absorptiometry were applied to 26 patients and 27 controls. Nine of 32 subjects with NF1 had a skeletal abnormality. BMD of the lumbar spine, and femoral neck in NF1 patients significantly decreased compared to that of healthy subjects. They were also significantly decreased in pubertal patients when compared to pubertal controls and in prepubertal patients when compared to prepubertal controls. Patients with skeletal abnormalities were found to have significantly lower level of osteocalcin when compared to patients without skeletal abnormality. Other biochemical markers did not exhibit any difference between the groups. In conclusion, our findings suggest that bone formation markers rather than DEXA could be good predictors of skeletal abnormalities among NF1 patients. However, in our study the number of the NF1 patients with skeletal abnormality and the number of bone formation markers studied were all limited. It is appropriate to perform larger studies with other bone formation markers beside osteocalcin.

Spontaneous periodic hypothermia and hyperhidrosis.

We present a patient diagnosed with Shapiro syndrome without corpus callosum agenesis. A 4-year-old-girl was admitted to the hospital with complaints of sweating, cooling, and drowsiness that continued during the last week of her admission. Attacks occurred almost daily, and lasted for about 1 hour. All laboratory findings, as well as Holter and echocardiography results, were normal. Cranial magnetic resonance imaging demonstrated an intact corpus callosum, and electroencephalography obtained during an attack revealed normal findings. However, technetium 99m-labeled hexamethylpropylene amine oxime brain single-photon emission computed tomography indicated increased perfusion in the right thalamus, basal ganglia, and inferior frontal areas during a hypothermic period. Although oxcarbazepine reduced the frequency of attacks, they were not halted completely. The patient responded better to carbamazepine.

Electrophysiologic and Neuropsychologic Evaluation of Patients with Centrotemporal Spikes

The present study was designed to evaluate neurocognitive functions with endogenous potentials and neurophysiologic tests in patients with centrotemporal spikes who were not on any medication. Of the patients, 85.7% had seizures, 9.5% had pavor nocturnes, and 4.8% had atypical headache. The patients, especially who had atypical seizures or left-sided epileptic activity, were found to have significant visuomotor function impairment (p <.05). In P300 test, N2P3 amplitude was lower in the patients, particularly who had left sided epileptic activity (p <.05). MMN and LDN results were normal. Serial evaluations of such patients with endogenous potentials and neuropsychological tests may be helpful to show development of neurocognitive impairment.

SWIMMING TRAINING PROGRAM FOR CHILDREN WITH CEREBRAL PALSY: BODY PERCEPTIONS, PROBLEM BEHAVIOUR, AND COMPETENCE '

The aim of this study was to assess the effects of a 14-week swimming training program on the competence, problem behaviour, and body awareness in 13 children with cerebral palsy aged 5 to 10 years, compared with 10 subjects in a comparison group. Both of the groups continued a traditional rehabilitation program. The outcome measures were Child Behaviour Check List (CBCL) and Body Awareness. The parent forms were evaluated before and after training and also at 6 months followup. Teacher forms and body awareness were evaluated before and after training. The results showed that swimming training produced significant gain on body awareness in the Swimming Group, whereas no significant group differences were evident in competence and problem behaviours on parent or teacher forms of the CBCL.

Neurocognitive function in patients with β‐thalassemia major

Background:  Children with β‐thalassemia major (β‐TM) have multiple risk factors for developing cognitive impairment. The aim of the present study was to evaluate cognitive function in patients with β‐TM.

Sensorimotor polyneuropathy in patients with SMA type-1: electroneuromyographic findings.

Introduction: Generally, spinal muscular atrophy (SMA) is believed to be a pure motor neuron disease. We retrospectively evaluated our electrodiagnostic findings in SMA type 1 patients to demonstrate co‐existence of sensorimotor neuropathies. Methods: Electroneuromyographic (ENMG) studies in 15 patients (11 boys, 4 girls) were reviewed independently by 2 neurophysiologists. Upper extremity findings were compared with normal right arm controls. Results: Patient ages ranged from 1.5 to 26 months. Four SMA patients (26.7%) had decreased sensory nerve action potentials (SNAPs) or sensory nerve conduction velocities. Of them, median SNAPs could not be elicited in 3, and sural SNAPs could not be elicited in 2. Compound muscle action potential amplitudes were severely decreased in 14 (93.3%) and normal in 1. Conclusions: Survival motor neuron 1 (SMN1) gene analysis should be considered if clinical features are consistent with SMA, even if pathological or electrophysiological findings demonstrate peripheral sensorimotor polyneuropathies. Muscle Nerve, 2013

Spontaneous Endogenous Hypermelatoninemia: A New Disease?

Melatonin, a major photoperiod-dependent hormone, regulates circadian rhythms and biological rhythms and acts as a prominent sleep promoter. Symptoms related to hypermelatoninemia have been reported in individuals supplemented with melatonin. However, spontaneous endogenous hypermelatoninemia has not been reported previously. A 6-year-old girl previously diagnosed with Shapiro’s syndrome was admitted to our hospital on several occasions during a 1-year period with complaints of altered consciousness, syncope, hypothermia and episodes of sweating. The episodes occurred daily and during sleep and lasted for 1–6 h. During these episodes, she sweated profusely and felt faint and her skin was pale and cool. Other complaints included recurrent abdominal pain, urge incontinence and myopia. She was shown to have hypermelatoninemia (>1,000 pg/ml, normal range 0–150 pg/ml) during these episodes. The duration of her attacks decreased with phototherapy and she was successfully treated with propranolol. To our knowledge, this is the first case of hypermelatoninemia without any detectable organic pathology. We did not determine the exact mechanism of hypermelatoninemia in this patient; however, it might have been related to irregular control of pinealocytes by the suprachiasmatic nucleus or related pathways. Hypermelatoninemia should be considered in patients with spontaneous periodic hypothermia and hyperhidrosis, and also in patients with Shapiro’s syndrome.

Case of Bartter Syndrome Presenting With Hypokalemic Periodic Paralysis

Hypokalemic periodic paralysis can occur secondarily to excessive potassium loss. Thyrotoxicosis, diuretic ingestions, hyperaldosteronism, barium poisoning, Gitelman syndrome, and Bartter syndrome are among the disorders causing secondary hypokalemic periodic paralysis. Clinical presentation of Bartter syndrome with hypokalemic periodic paralysis is rare. A 12-year-old boy was admitted to our hospital because of transient paralysis. He had been suffering from transient weakness attacks for 2 years and had had a total of 10 attacks, lasting 1 to 3 days. He had growth retardation, polyuria, and polydipsia. Laboratory examinations revealed hypokalemic alkalosis, normomagnesemia, hypercalciuria, and hyperaldosteronism. The clinical and laboratory findings were in accordance with Bartter syndrome. He has been followed up for 6 months and has suffered no further paralytic attacks under indomethacin therapy. This case highlights the importance of blood pH measurement in patients with hypokalemic periodic paralysis; it might prevent misdiagnosis and mismanagement in such diseases. (J Child Neurol 2006;21:255—256; DOI 10.2310/7010.2006.00049).

Epidural capillary hemangioma: A review of the literature

Hemangiomas in the spinal epidural area are very rare lesions, and most of these lesions are of the cavernous type. Only seven cases of capillary hemangiomas have been reported in the English literature, and all of these cases occurred in adulthood. Here, we report on a 17-month-old girl who presented with an inability to walk. MRI revealed an epidural mass, which was diagnosed as an epidural capillary hemangioma in the thoracic region. To our best knowledge, this case is the first epidural capillary hemangioma case to occur in childhood that has been reported.