The authors present three patients from a consanguineous family afflicted with novel recessive myoclonic epilepsy characterized by very early onset and a steadily progressive course. The onset is in early infancy, and death occurs in the first decade. In addition to various types of myoclonic seizures, episodic phenomena such as dystonias, postictal enduring hemipareses, autonomic involvements, and periods of obtundation and lethargy were also observed. Developmental and neurological retardation, coupled with systemic infections, leads to a full deterioration. The authors designated the disease progressive myoclonic epilepsy with dystonia (PMED). A genome scan for the family and subsequent fine mapping localized the gene responsible for the disease to the most telomeric 6.73 mega base pairs at the p-terminus of chromosome 16, with a maximum multipoint logarithm-of-odds score of 7.83 and a maximum two-point score of 4.25. A candidate gene was analyzed for mutations in patients, but no mutation was found.

ÖzetAmaç: Bu çalijmanin amaci ilaç zehirlenmesi nedeni ile yatirilan çocukiarda olay ile baglantili tüm verileri incelemek ve bu verilere dayanarak alinabilecek önlemleri belirlemektir.Yöntem: Çalijmaya Çocuk Acil Servisi'ne ilaç zehirlenmesi nedeniyle bajvuran ve yatirilarak izlenen 33'ü erkek, 68'i kiz 101 hasta alindi. Olgularin yaji, cinsiyeti, aliñan etken maddelere ait özellikler, ilacin alinmasindan sonra ilk tibbi müdahaleye kadar geçen sure, ailelerin tutum ve davranijlari bir anket formuna kaydedildi. Bulgular: Çalijmamizda ilaç zehirlenmeleri çocuk aciline gelen hastalar içinde %1.23 oranmda bulunmujtur. Olgularin yajlari 2-16 yaj arasmda (6.75+5.30) degijmekteydi. 52 hasta ilaci kaza ile alirken, 49'u intihar amaçli almi^tir. Kaza ile zehirlenme olgularina 2-6 ya| arasmda rastlanirken intihar olgulari 12 ya § ve üstü ergenlerdi. Zehirlenmeye sebep olan ilaç olarak ilk sirada parasetamol (%13.8), ikinci sirada amitriptilin (%10.7) saptandi. Sonuçlar:Zehirlenmelerin tedavisinde önemli gelijmeler olmasma ragmen yine de en etkili yöntem ailelerin bilgilendirilmesi ve koruyucu önlemlerin almmasidir. (Haseki Tip Büiteni 2013; 51: 157-61) Anahtar Kelimeler: Çocuk, ilaç, zehirlenme Abstract Aim: The purpose of this study was to investigate the demographic characteristics, role of family factors, etiology and the factors affecting the prognosis in children who had been admitted to our hospital between 04 August 2007 and 24 January 2009 due to intoxication and, based on these data, to determine the preventive measures that can be taken. Methods:One hundred and one children (61 girls and 33 boys) were included in the study Patient age and sex, manner of poisoning, time between ingestion of poison and hospital admission, and attitudes and behaviors of families were recorded. Results:The poisoned patients represented 1.23%of all pédiatrie emergency admissions. The mean age of the patients was 6.75+5.30 years (range: 2-16). Self-poisoning was detected in 49 cases and 52 cases were accidental poisoning. It was seen that adolescent over 12 years of age were more prone to suicidal poisoning and children aged 2-6 years were more susceptible to accidental poisoning. Paracetamol (13.8%) and amitriptyline (10.7%) were the most common drugs. Conclusion:Although there are important improvements in the management of intoxication,family education and preventive measurements are of great importance. (The Medical Bulletin of Haseki 2013; 51: 157-61)