ESS Epworth Sleepiness Scale IRLSSG International Restless Legs SyndromeStudy Group PLMS Periodic limb movements in sleep RLS Restless legs syndrome SDQ Strengths and Difficulties Questionnaire AIM The aim of this study was to determine the prevalence and correlates of restless legs syndrome (RLS) in adolescents.METHOD A sleep questionnaire aimed at identifying 'definite' RLS criteria (also including the Strengths and Difficulties Questionnaire and the Epworth Sleepiness Scale) was completed by 3304 high school adolescents aged 15 to 18 years (49% male; 51% female) in Gaziantep, Turkey. The diagnosis of RLS was confirmed by face-to-face or phone interviewing. The v 2 or Student's t-test and logistic regression tests were used for statistical evaluation.RESULTS 'Definite' RLS was diagnosed in 3.6% of participants. RLS symptoms were reported to occur on more than one occasion per week (frequent RLS) in 2% of participants and to make it to difficult to fall asleep or stay asleep (RLS with sleeping difficulty) in 1.7%. The prevalence of the combination of frequent symptoms and sleeping difficulty was 0.8%. Logistic regression analysis revealed that RLS was independently associated with nocturnal bed-wetting (4.2% vs 0.8%; p=0.004), sleeping difficulty (47% vs 32%; p=0.011), Epworth Sleepiness Scale score (4.9 vs 3.9; p=0.036), hyperactivity ⁄ inattention (25% vs 14%; p=0.049), awakening with discomfort in the legs (51% vs 30%; p<0.001), and parents with RLS-implying symptoms (56% vs 38%; p=0.006). RLS with sleeping difficulty was associated with hyperactivity ⁄ inattention (p=0.007); frequent RLS was associated with arm restlessness (p=0.006).INTERPRETATION 'Definite' RLS is not rare in adolescents; furthermore, it may be accompanied by several comorbid conditions that can impair quality of life in adolescents.Restless legs syndrome (RLS) is a sensorimotor disorder of the legs. According to the diagnostic criteria revised by the International RLS Study Group (IRLSSG) in 2003, 1 RLS has four essential characteristics: (1) an irresistible urge to move the legs, usually associated or caused by unpleasant and uncomfortable sensations, that (2) begins or worsens during periods of rest, (3) is relieved by movement, and (4) occurs or worsens in the evening or at night. These essential criteria have been proposed for the diagnosis of 'definite' RLS in adults and adolescents aged 12 or older. Supportive criteria have been proposed for special populations such as children and individuals with cognitive impairment. Individuals who do not meet all the criteria of 'definite' RLS may be defined as having 'probable' or 'possible' RLS. 1 Several epidemiological surveys have been conducted in adults. However, there are few studies in children and adolescents, 2,3 and only one epidemiological study has been based on the latest diagnostic criteria in a paediatric population. 4 Laberge et al. 2 found leg restlessness at bedtime in 6.1% of children in their study. Kotagal and Silber 3 reported a prevalence of RLS of 5.9%, with a ratio o...

Although the duration for the diagnosis and initiation of CH treatment were markedly reduced with the implementation of the screening program in Turkey compared to those before the implementation of the screening program, we have not yet achieved the ideal time (≤14 days).

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic disease. We present two siblings with BVVLS with a novel homozygous mutation in SLC52A3 (formerly C20orf54) gene. The first sibling was admitted with respiratory insufficiency and required mechanical ventilation. After administration of a high dose of riboflavin, all his clinical symptoms were resolved, which also strongly suggested the diagnosis of BVVLS. The second sibling was also found to have the same genetic mutation as her brother. Although she was symptom-free, riboflavin was initiated empirically. On follow-up, she developed no neurologic or metabolic problems with entirely normal growth and development. BVVLS should be considered in the differential diagnosis of unexplained neurologic symptoms such as polyneuropathy and respiratory insufficiency, as BVVLS and multiple acyl-CoA dehydrogenation defect have broadly overlapping symptoms. Furthermore, our cases once again suggest that with proper diagnosis and early high-dose riboflavin treatment, complete reversal of neurologic deficits in BVVLS is possible.

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We determined the mutation spectra of BD from the southeastern part of Turkey. The results of this study add three more mutations to the total number of mutations described as causing BD.

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Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive disorder caused by the deficit of the arylsulfatase B (ARSB) enzyme, which leads to dermatan sulfate pathological storage, resulting in a wide spectrum of clinical phenotypes. To date more than 130 different mutations were reported, most of them being restricted to individual families. We here report the first study on the ARSB gene mutations in MPS

Şeker-Yılmaz B, Kör D, Bulut FD, Yüksel B, Karabay-Bayazıt A, Topaloğlu AK, Ceylaner G, Önenli-Mungan N. Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations. Turk J Pediatr 2017; 59: 434-441. Fanconi-Bickel syndrome (FBS) is a rare, autosomal recessive disorder of carbohydrate metabolism caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene. Prominent findings are failure to thrive, renal tubular acidosis, hypoglycemia and postprandial hyperglycemia even mimicking diabetes mellitus. Eight patients from 6 families with FBS were included in this study. c.482_483insC homozygous mutation was detected in six patients from four different families. Mutation analysis of SLC2A2 gene revealed two novel homozygous mutations; c.1069delGinsAATAA and c.575A > G. Standard oral glucose tolerance test with 1.75 g/kg oral glucose was performed in six of the patients who were older than 3-years of age. Impaired glucose tolerance was found in all patients as expected and two of them had overt diabetes. None of the antidiabetic medications were given to them in order to avoid significant hypoglycemia. Beside the conservative treatment, follow up with frequent oral glucose tolerance tests are planned. We report these cases of FBS, as GSD XI is rare, two novel mutations were detected and also to highlight the risk of diabetes mellitus; although there is not a consensus about the treatment.