A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase Deficiency

Biotinidase (BTD) enzyme deficiency is a congenital metabolic disorder with autosomal recessive inheritance. Main symptoms in its deficiency are nervous system and skin manifestations. A 15-month-old patient who was diagnosed with Li-Campeau syndrome, was also diagnosed with BTD deficiency and his clinic rapidly improved with biotin treatment. With the awareness of different clinical presentations of BTD deficiency, patients presenting with clinical symptoms raising the suspicion of this disorder must be evaluated for enzyme activity and genetic analysis must be planned. It is of great importance to keep in mind the possibility of this rare but treatable neurometabolic disorder, even in countries with neonatal screening programme and include it in differential diagnoses in order to prevent irreversible symptoms

Levetiracetam Serum Concentrations in Pediatric Patients: Is There a Role in Clinical Decision Making?

Objective:Monitoring levetiracetam plasma concentration is not frequently used in clinical practice due to the linear pharmacokinetics of the drug and the absence of drug interactions. Nonetheless, some studies mention pharmacokinetic interactions of the drug and suggest drug level monitoring. This study was conducted to evaluate the effect of concomitant antiepileptics on levetiracetam plasma concentration in children and to determine the importance of drug plasma concentration in clinical follow-up.Methods:One hundred and forty patients with epileptic seizures on levetiracetam therapy, aged between 1 month and 18 years, were enrolled in this retrospective study. We evaluated gender, age, body weight, daily drug dose, comedication with enzyme inducers and inhibitors, and levetiracetam serum trough concentration records of patients admitted to Pediatric Neurology Clinic between 2018 and 2020.Results:In this study, 57.9% of 140 patients were on monotherapy. The mean dose of levetiracetam was 35.40 mg/kg/day, while the mean drug concentration was 14.06 μg/mL. The correlation between the dose and the serum concentration in the polytherapy group was poor (P = .024), whereas it was positive and highly significant in the monotherapy group (P < .001). The plasma concentration of the drug was not affected by the enzyme inhibitors and inducers, as there was no significant difference between the groups.Conclusion:Monitoring is not necessary for patients on levetiracetam, even in polypharmacy. The clinical decision is not affected by plasma drug concentration as drug has linear pharmacokinetics and the drug concentration is not affected by concomitant drugs, and age has no significant impact on plasma concentrations

Efficacy of Levetiracetam Monotherapy in Childhood Epilepsy

Objectives:Levetiracetam (LEV) is an antiepileptic drug approved particularly for treatment of focal seizures. The aim of this study was to investigate efficacy and tolerability of LEV monotherapy in pediatric patients.Methods:In the present study, records of 225 children (aged 1 month-18 years) treated with LEV and with follow-up for at least 1 year were evaluated. Diagnosis of epilepsy included history of 2 or more unprovoked seizures. Demographic characteristics, reason for antiepileptic treatment, dosage of levetiracetam, duration of treatment, antiepileptic drugs used previously, seizure type, seizure duration, cranial magnetic resonance images, electroencephalogram results, seizure etiology, and side effects of the drug were documented.Results:Total of 225 patients, 95 girls and 130 boys, were enrolled in the study. Of those, 125 (55.6%) patients had generalized seizures, 90 (40%) had focal seizures, and 10 (4.4%) had other type of seizures. In treatment, 186 (82.7%) patients remained seizure-free. There was no difference in effectiveness of LEV on partial or generalized epilepsy. Overall, 8 (18%) patients had adverse events. Most common side effects observed were irritability and nervousness. There was no relationship between drug dosage and side effects.Conclusion:LEV monotherapy is effective in childhood epilepsy with focal or generalized seizures. It is well tolerated in spite of mild and transient side effects, which do not require drug discontinuation

Does iron therapy have a place in the management of all breath-holding spells?

Aim of this study was to analyze the effect of iron therapy in children with breath-holding spells, irrespective of their hemoglobin level. Method: All of the children were evaluated in terms of age, sex, age at onset of the attack, attack frequency, type of breath-holding spell, family pedigree, laboratory values. All enrolled patients were given iron at the dose of 4 mg/kg/day as a single daily dose for 3 months. Patients were called for follow-up appointments 1 and 3 months after the initiation of treatment to record the frequency and severity of spells. Results: The mean age of the patients was 12.50 ± 9.51 months. Patients were divided into two groups according to the hemoglobin level. The frequency of anemia in children with spells was recorded as 27%. Out of 100 patients treated with iron, 43% showed complete remission at the end of 1 month. At the end of the 3 months, percentage of complete responders increased to 80%. After three-month of iron treatment, 96.2% of the anemic and 73.97% of the non-anemic patients were spell-free. Eight children had mild adverse effects after iron therapy that did not require dose modification. Conclusions: This study confirmed that iron therapy reduces spell frequency regardless of anemia in all breath-holding spells. A three-month empiric iron therapy should be offered to all children with spells

AGT rs699 and AGTR1 rs5186 gene variants are associated with cardiovascular-related phenotypes in atherosclerotic peripheral arterial obstructive disease

Background Peripheral arterial diseases (PAD) refer to the arterial diseases other than coronary arteries and the aorta. Atherosclerosis is the major cause of PAD. Renin angiotensin aldosterone system (RAAS)-related genes were associated with cardiovascular diseases. Angiotensin II is the pro-inflammatory, proliferative and vasoconstrictor effector of RAAS in the vascular system. Aims In this study, we aimed to investigate whether the effects of the angiotensinogen (AGT) rs699 (M268T), angiotensin-converting enzyme (ACE) I/D (rs1799752), angiotensin II receptor type 1 (AGTR1) (A1166C) rs5186, and angiotensin II receptor type 2 (AGTR2) rs35474657 variants were associated with PAD etiology due to atherosclerotic involvement of aorta-iliac and femoro-popliteal artery occlusions. Methods AGTrs699,AGTR1rs5186,ACEI/D (rs1799752),AGTR2rs35474657 gene variants were determined by real-time polymerase chain reaction (RT-PCR) in 63 PAD patients (33 femoro-popliteal, 30 aorta-iliac) and 70 healthy controls. Results Although there was no significant relationship in the genotype frequencies ofAGTrs699,AGTR1rs5186,ACEI/D (rs1799752), andAGTR2rs35474657 variants between PAD and control groups (p > 0.05),AGTrs699 TT genotype was significantly associated with fasting glucose (p = 0.023) in PAD patients. Besides, CC genotype of rs699 was significantly related with HDL-cholesterol levels (p = 0.020) in PAD group. Furthermore,AGTR1rs5186 CC genotype carriers demonstrated significantly higher LDL-cholesterol (p = 0.034) and triglycerides levels (p = 0.007). Conclusions This report is the first to show an association between RAAS-related gene variants and their relation with the biochemical characteristics of PAD and suggests that RAAS-associated gene variants may have significant roles in cardiovascular related phenotypes of PAD patients