scholarly journals Young patient with juvenile polyposis syndrome: A case report

2012 ◽  
Vol 02 (03) ◽  
pp. 105-108
Author(s):  
Mounia El Yousfi ◽  
Bahija Benyachou ◽  
Adil Ibrahimi ◽  
Laila Chbani ◽  
Afaf Amarti
Keyword(s):  
Case Report ◽  
Young Patient ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

scholarly journals Juvenile Polyposis Syndrome in a Young Patient: A Rare Case Report

2018 ◽  
Vol 3 (2) ◽  
pp. 492-494
Author(s):  
Yamuna Agrawal ◽  
Rajan Shah ◽  
Brikh Raj Joshi ◽  
Vivek Kattel
Keyword(s):  
Case Report ◽  
Young Patient ◽  
Rare Case ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Rare Syndrome ◽  
Rare Case Report ◽  
Malignant Condition

Juvenile polyposis syndrome prevalence is 1 in 16,000 to 1 in 100,000 which usually present at the age of 20 years. The tumor is likely to change into malignant condition in 20% of cases. Here we present this rare syndrome in a 16-year boy. BJHS 2018;3(2)6:492-494.

scholarly journals Juvenile polyposis syndrome affecting the stomach: A case report

2008 ◽  
Vol 2 (1) ◽  
Author(s):  
Steven Kelly ◽  
Simon Dwerryhouse ◽  
Peter Safranek ◽  
Richard Hardwick
Keyword(s):  
Case Report ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

scholarly journals BMPR1A mutation–positive juvenile polyposis syndrome and atrial septal defect: coincidence or association?

2019 ◽  
Vol 12 (6) ◽  
pp. e229881
Author(s):  
Rachel E Harris ◽  
Richard K Russell
Keyword(s):  
Case Report ◽  
Atrial Septal Defect ◽  
Septal Defect ◽  
Cardiovascular Complications ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Routine Surveillance ◽  
Surveillance Endoscopy ◽  
Asd Closure

We describe the case of a 16-year-old male patient with BMPR1A mutation and incidentally detected atrial septal defect (ASD). This patient was diagnosed with BMPR1A mutation through genetic testing and was attending for routine surveillance endoscopy when ASD was incidentally diagnosed. He was referred to cardiology outpatient clinic with plans for elective ASD closure. Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and cardiac abnormalities.

scholarly journals Juvenile polyposis syndrome: A case report

2019 ◽  
Vol 59 ◽  
pp. 73-75 ◽  
Author(s):  
A. Pérez-Castilla ◽  
P. Peñailillo ◽  
D. Oksenberg
Keyword(s):  
Case Report ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history

2020 ◽  
Vol 13 (12) ◽  
pp. e236855
Author(s):  
Wendy Chang ◽  
Patricia Renaut ◽  
Casper Pretorius
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Juvenile Polyposis ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Gi Tract ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
History Of ◽  
Gastric Mass

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.

scholarly journals Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*

2001 ◽  
Vol 69 (4) ◽  
pp. 704-711 ◽  
Author(s):  
Xiao-Ping Zhou ◽  
Kelly Woodford-Richens ◽  
Rainer Lehtonen ◽  
Keisuke Kurose ◽  
Micheala Aldred ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome

2012 ◽  
Vol 55 (8) ◽  
pp. 886-892 ◽  
Author(s):  
Margaret O’Malley ◽  
Lisa LaGuardia ◽  
Matthew F. Kalady ◽  
Joseph Parambil ◽  
Brandie Heald ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome
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