Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/9422
Title: Fatal pulmonary embolism due to ınherited thrombophilia factors in a child with wolfram syndrome
Authors: Kucuktasci, K.
Semiz, Serap
Balcı, Yasemin Işık
Özsari, T.
Gürses, Dolunay
Önem, Gökhan
Saçar, Mustafa
Keywords: pulmonary embolism
thrombofilia risk factors
Wolfram syndrome
blood clotting factor 5 Leiden
C reactive protein
ceftriaxone
desmopressin
enoxaparin
heparin
insulin
methylenetetrahydrofolate reductase (NADPH2)
protein C
rheumatoid factor
warfarin
blood clotting factor 5
adolescent
Article
cardiopulmonary arrest
case report
clinical examination
computer assisted tomography
degenerative disease
diabetes insipidus
diabetes mellitus
diabetic ketoacidosis
echocardiography
embolism
female
gene
gene mutation
Glasgow coma scale
hearing impairment
heart atrium thrombosis
heterozygosity
homozygosity
human
insulin dependent diabetes mellitus
laboratory test
loading drug dose
lung embolism
methylenetetrahydrofolate reductase gene
optic nerve atrophy
physical examination
priority journal
resuscitation
risk factor
single drug dose
thrombectomy
thromboembolism
thrombophilia
thrombosis
activated protein C resistance
complication
fatality
genetics
Pulmonary Embolism
Activated Protein C Resistance
Adolescent
Diabetes Mellitus, Type 1
Factor V
Fatal Outcome
Female
Humans
Methylenetetrahydrofolate Reductase (NADPH2)
Thrombophilia
Wolfram Syndrome
Publisher: Lippincott Williams and Wilkins
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. Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved.
URI: https://hdl.handle.net/11499/9422
https://doi.org/10.1097/MPH.0000000000000634
ISSN: 1077-4114
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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