Agnieszka Rusińska

Evaluation of vitamin D levels in children hospitalized with symptoms suggesting metabolism disorders in skeleton system

Introduction. Commonly occurring vitamin D deficiency in children can significantly influence the development of their skeleton. Objectives. Aim of the study is to evaluate the relationship between serum vitamin D levels and the occurrence of the skeleton system disorders in children at different developmental periods. Material and methods. The study included 1007 children aged 0-18 years (471 girls and 538 boys) who were hospitalized in the Department of PropedeuticsPaediatrics and Metabolic Bone Diseases, Medical University of Lodz in 2011–2015. Patients were divided into 6 groups: group I – 0–12 months, group II – 1–3 years, group III – 4–6 years, group IV – 7–10 years, group V – 11–14 years and group VI – 15–18 years. For each patient, the concentration of hydroksycholekacyferolu (25OHD) in serum was measured with chemiluminiscent immunoassay technology. Vitamin D deficiency was diagnosed at a concentration 25OHD ≤ 30 ng/ml. Results. 721 of children (71.59%) had vitamin D deficiency, more often boys. There was an increased incidence of vitamin D deficiency with age. Average concentrations of 25OHD reaches ≥ 30 ng/ml only in August Klinika Propedeutyki Pediatrii i Chorób Metabolicznych Kości Uniwersytetu Medycznego w Łodzi 1Centralny Szpital Kliniczny Uniwersytetu Medycznego w Łodzi, Ośrodek Pediatryczny im. M. Konopnickiej Evaluation of vitamin D levels in children hospitalized with symptoms suggesting metabolism disorders in skeleton system Department of Paediatric Propedeutics and Bone Metabolic Diseases Medical University of Lodz 1M. Konopnicka Pediatric Centre, Central Hospital of the Medical University od Lodz

Recurrent fractures as a new skeletal problem in the course of Angelman syndrome

Angelman syndrome is a genetically inherited syndrome with severe retardation of psychomotor development and speech disturbances, usually accompanied by epilepsy, typical dysmorphic features, and some skeletal symptoms. The aim of the current report is to present new skeletal symptoms which may occur in the course of AS, based on a case report of an 8-year-old girl with confirmed 15q11;12 microdeletion and recurrent low-trauma bone fractures. According to our knowledge it is the first report of such skeletal symptoms in patient with a diagnosis of AS.