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ABSTRACT: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is an inborn error of brain energy metabolism characterized by impaired glucose transport into the brain. A classic phenotype comprising epilepsy, mental retardation, an often paroxysmal disorder, and several subtypes has been described. Although typical absences are frequent in GLUT1DS, myoclonic absence seizures are rarely reported. Here we describe a novel Turkish patient with a hot-spot mutation (R126C) in the SLC2A1 gene who presented with unusual myoclonic absence epilepsy and paroxysmal shivering. The case is discussed in view of eight other cases carrying the R126C mutation.
Epilepsy & Behavior 06/2011; 21(2):200-2. · 2.34 Impact Factor
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ABSTRACT: In order to investigate the association between IL-1beta -511 C-->T and IL-1 receptor antagonist intron 2 variable tandem repeat polymorphisms, and febrile seizures in children, 90 children (mean age, 19.7 +/- 11.2 months) diagnosed with febrile seizure and 106 healthy controls (mean age, 14.2 +/- 3.6 months) with no seizure or neurologic events were included in the study. The polymorphisms were analyzed using restriction fragment length polymorphism and agarose gel electrophoresis methods. In the patient group, the frequencies of IL-1beta genotypes CC, CT, and TT were 24.4%, 52.2%, and 23.3%, respectively, compared with 38.7%, 50.95%, and 10.4%, respectively, in the control group. The TT genotype was significantly more common in the patient group than in the control group (P = 0.044), and the T allele frequency was significantly higher in the patient group (0.50 vs 0.36, P = 0.040). Among the three genotypes (RN1/1, RN1/2, and RN2/2) of the IL receptor antagonist gene variable tandem repeat polymorphisms, the frequency of both the RN2/2 genotype and the RN2 allele were significantly higher in the patient group (P = 0.007). Also RN2 allele frequency was found higher in patient group than controls (0.29 vs 0.15, P = 0.020). IL-1beta -511 and IL-1 receptor antagonist intron 2 variable tandem repeat polymorphisms may be involved in susceptibility to febrile convulsions in children.
Pediatric Neurology 03/2009; 40(2):113-6. · 1.52 Impact Factor
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ABSTRACT: Reflex sympathetic dystrophy is characterized by constant burning pain and hyperesthesia in an extremity. Lower extremities are usually affected. Pain is accompanied by swelling, sweating, vasomotor instability and sometimes trophic changes. There may be a history of minor injury or not. Muscle spasms, myoclonus or focal dystonia may occur. Diffuse pain, loss of function and autonomic dysfunction are three main criteria suggested for diagnosis. Symptoms can last a few days to as long as a year. In this report we present a girl with multiple limb involvement of stage I RSD. The sympathetic skin responses were tested during a remission period. She had milder attacks with a recurrence rate of 4 per year in the following three years from onset.
The Indian Journal of Pediatrics 05/2002; 69(4):359-61. · 0.52 Impact Factor
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ABSTRACT: Valproic acid is commonly used in the management of childhood epilepsy. The known hematologic side effects of the drug are hemorrhagic diatheses, thrombocytopenia, and hypofibrinogenemia. We studied coagulation parameters in 29 epileptic children receiving valproic acid for at least 6 months. Their ages ranged between 2 and 18 years (10.2 +/- 4.9 years). The total valproic acid dose was 250 to 1000 mg/day equivalent to 20 to 30 mg/kg/day. Treatment duration ranged from 6 to 57 months. These children had not previously had a hemostatic defect and had no family history of bleeding disorders. Platelet count, prothrombin time, activated partial thromboplastin time, bleeding time, fibrinogen, platelet aggregation assays, and ristocetin cofactor activity levels were determined in all of the patients, but von Willebrand's factor antigen levels could be determined in only 14 patients. The values of von Willebrand's factor antigen ranged from 53 to 218% (104.1 +/- 42.3), and ristocetin cofactor activity levels ranged from 11.5 to 218% (94.5 +/- 43.1). Six of the 29 children (20.7%) had decreased values of ristocetin and cofactor activity and were considered to have acquired von Willebrand's disease. The decreases in coagulation parameters were not dependent on either valproic acid dose or treatment duration. Two patients with low ristocetin cofactor activity values had mild epistaxis, which did not require discontinuation of therapy. In patients receiving valproic acid therapy, this side effect must be considered, especially before surgical intervention and serious traumatic conditions.
Journal of Child Neurology 02/2002; 17(1):41-3. · 1.75 Impact Factor
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ABSTRACT: Miller Fisher syndrome is characterized by the acute onset of ophthalmoplegia, ataxia, and areflexia. Anti-GQ1b antibodies are useful markers for the differential diagnosis of Miller Fisher syndrome. We describe the case of a seven-year-old male who presented with a four-day history of diplopia and ophthalmoplegia following a febrile flu-like illness with sore throat. On examination he was found to have ataxia, areflexia and ophthalmoplegia, and a diagnosis of Miller Fisher syndrome was made after the exclusion of other conditions and concomitant with electrophysiological findings on electromyography. Although this disorder has a rare incidence, it should still be considered in the differential diagnosis in our country.
The Turkish journal of pediatrics 49(1):109-12. · 0.44 Impact Factor
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ABSTRACT: An atypical form of chronic inflammatory demyelinating polyneuropathy (CIDP) complicated with phrenic nerve palsy is presented with clinical and electrophysiologic features. A seven-year-old girl had initial presentation mimicking Guillain-Barré syndrome based on electrophysiologic characteristics. Between 7-11 years of age, she had five recurrences of subacute onset of weakness which usually developed over at least 2-4 months and progressed to loss of ambulation and to respiratory insufficiency. Radiologic examinations revealed unilateral phrenic nerve palsy associated with CIDP. Our patient demonstrated the rare association of CIDP and phrenic nerve palsy, resulting in diaphragmatic paralysis and respiratory failure.
The Turkish journal of pediatrics 49(2):210-4. · 0.44 Impact Factor
