title: Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome.
abstract: Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops.
authors.affiliation: *Clinic of Pediatrics, Tekirdağ State Hospital, Tekirdağ Departments of †Pediatrics, Division of Pediatric, Endocrinology ‡Pediatrics, Division of Pediatric, Hematology ∥Pediatrics, Division of Pediatric, Cardiology ¶Cardiovascular Surgery #Medical Genetics **Nuclear Medicine ††Cardiology, Faculty of Medicine, Pamukkale University, Denizli §Iğdir State Hospital, Clinic of Pediatrics, Iğdir, Turkey.
authors.forename: Kazim
authors.initials: K
authors.lastname: Küçüktaşçi
authors.forename: Serap
authors.initials: S
authors.lastname: Semiz
authors.forename: Yasemin Işik
authors.initials: YI
authors.lastname: Balci
authors.forename: Tamer
authors.initials: T
authors.lastname: Özsari
authors.forename: Dolunay
authors.initials: D
authors.lastname: Gürses
authors.forename: Gökhan
authors.initials: G
authors.lastname: Önem
authors.forename: Mustafa
authors.initials: M
authors.lastname: Saçar
authors.forename: Füsun
authors.initials: F
authors.lastname: Düzcan
authors.forename: Doğangün
authors.initials: D
authors.lastname: Yüksel
authors.forename: Ender
authors.initials: E
authors.lastname: Semiz
mesh_terms: D020016:Activated Protein C Resistance / Q000209:etiology; D000293:Adolescent; D003922:Diabetes Mellitus, Type 1 / Q000150:complications; D005165:Factor V / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D011655:Pulmonary Embolism / Q000209:etiology*; D019851:Thrombophilia / Q000150:complications*; D014929:Wolfram Syndrome / Q000150:complications*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)