title: Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. Case report.
abstract: Panton-Valentine leukocidin (PVL) is an exotoxin that is produced by many strains of Staphylococcus aureus, and an important virulence factor. A PVL-positive S. aureus infection leads to rapid and severe infections of soft tissue and necrotizing pneumonia in healthy adolescents, and has a high mortality. This case report included a 12-year-old male patient who admitted for fever, respiratory distress and hip pain and was identified with necrotizing pneumonia with septic pulmonary embolism, psoas abscess, cellulitis and osteomyelitis. The PVL positive methicillin-sensitive S. aureus (MSSA) was isolated in the patient blood culture.
authors.affiliation: Department of Pediatric Neurology, Tepecik Training of Research Hospital, Izmir, Turkey. nodundar@gmail.com.
authors.forename: Pinar
authors.initials: P
authors.lastname: Gencpinar
authors.affiliation: Department of Pediatric Neurology, Izmir Katip Çelebi University, Izmir, Turkey.
authors.forename: Dilek
authors.initials: D
authors.lastname: Çavuşoğlu
authors.affiliation: Department of Pediatrics, Izmir Katip Çelebi University, Izmir, Turkey.
authors.forename: Ömer
authors.initials: Ö
authors.lastname: Özbeyler
authors.affiliation: Department of Genetic Diagnosis Center, Tepecik Training and Research Hospital, Izmir, Turkey.
authors.forename: Özge Ö
authors.initials: ÖÖ
authors.lastname: Kaya
authors.affiliation: Department of Pediatric Neurology, Tepecik Training of Research Hospital, Izmir, Turkey.
authors.forename: Figen
authors.initials: F
authors.lastname: Baydan
authors.affiliation: Department of Pediatric Neurology, Izmir Katip Çelebi University, Izmir, Turkey.
authors.forename: Nihal
authors.initials: N
authors.lastname: Olgac Dundar
mesh_terms: D050960:Aminomethyltransferase / Q000235:genetics*; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation
chemical_list: D050960:Aminomethyltransferase
keywords: AMT gene mutation; Hiccups; Hypotonia; Infant; Seizure