Turner syndrome associated with acquired von Willebrand disease, primary biliary cirrhosis, and inflammatory bowel disease

2002 ◽  
Vol 70 (3) ◽  
pp. 257-259 ◽  
Author(s):  
Lubomir Sokol ◽  
Eugen T. Stueben ◽  
Jay P. Jaikishen ◽  
Maximo B. Lamarche
1976 ◽  
Vol 294 (22) ◽  
pp. 1221-1222 ◽  
Author(s):  
Ilja J. Weinrieb ◽  
Robert M. Fineman ◽  
Howard M. Spiro

PEDIATRICS ◽  
1980 ◽  
Vol 66 (1) ◽  
pp. 63-67 ◽  
Author(s):  
Karunyan Arulanantham ◽  
Michael S. Kramer ◽  
Joyce D. Gryboski

Five patients with inflammatory bowel disease (IBD) had abnormalities of the X chromosome (the Turner syndrome). Based on the estimated prevalence rate of 1:10,000 live female births for the Turner syndrome and 1:50,000 for IBD, random association of these two conditions would be expected in 1:500 million live female births. Given these odds, the findings in these five patients would suggest a clinical association not based on pure chance and unlikely to be accounted for by Berkson's or other referral bias. It is speculated that abnormal immune mechanism could possibly increase the susceptibility of patients with the Turner syndrome to develop IBD. Both conditions cause growth failure. Awareness of the association has clinical importance in identifying the cause of growth failure in a child with either X chromosomal abnormality or IBD.


Gut ◽  
1992 ◽  
Vol 33 (4) ◽  
pp. 502-506 ◽  
Author(s):  
T R Stevens ◽  
J P James ◽  
N J Simmonds ◽  
D A McCarthy ◽  
I F Laurenson ◽  
...  

Haemophilia ◽  
2017 ◽  
Vol 23 (3) ◽  
pp. e231-e233 ◽  
Author(s):  
A. Di Sabatino ◽  
C. Ambaglio ◽  
N. Aronico ◽  
N. Ghidelli ◽  
M. V. Lenti ◽  
...  

2018 ◽  
Vol 12 (2) ◽  
pp. 292-296 ◽  
Author(s):  
Rafael Bergesch D’Incao ◽  
Marcelo Campos Appel-da-Silva ◽  
Patricia dos Santos Marcon ◽  
Eduardo Marques Correa ◽  
Euler Manenti ◽  
...  

Turner syndrome is an exclusively female genetic disease caused by complete or partial absence of the second X chromosome. It is classically characterized by congenital lymphedema, short stature, and gonadal dysgenesis. In addition, the syndrome is associated with several other abnormalities. One of them is gastrointestinal bleeding, which is frequently associated with inflammatory bowel disease, but it can also be caused by vascular lesions such as hemangioma, vascular ectasia, and telangiectasia. We report the case of a patient with Turner syndrome with an episode of gastrointestinal bleeding, outlining our pathway for the investigation and treatment of this condition.


2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Amir Shaban ◽  
Brett Hymel ◽  
Maria Chavez-Keatts ◽  
Jordan J. Karlitz ◽  
Sheryl Martin-Schild

Objective. To describe the stroke characteristics of patients with a history of inflammatory bowel disease (IBD).Background. A hypercoagulable state associated with IBD has been frequently implicated as a risk factor for ischemic stroke. Variable mechanisms and infrequent occurrence limit prospective clinical research on the association between IBD and stroke.Methods. We retrospectively reviewed consecutive patients with acute ischemic stroke presenting to our medical center from 7/2008 to 9/2013. Patients with a history of IBD were identified. Clinical variables were abstracted from our prospective stroke registry.Results. Over the period of five years we identified only three patients with a documented history of IBD. Each of these patients presented three times to our hospital with new strokes. Patients presented outside the window for intravenous tPA treatment on 8/9 admissions. Each one of our patients had posterior strokes on at least two separate occasions. Hypercoagulation panel showed elevated factor VIII with or without concomitant elevation of Von Willebrand factor (vWF) during almost every admission (8/9 admissions). Only one admission was associated with IBD flare.Conclusion. The association between IBD and posterior strokes is a novel finding. Factor VIII elevation may serve as a biomarker of a peristroke hypercoagulable state in patients with IBD.


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