Appendiceal intussusception secondary to hamartomatous polyps of Peutz–Jegher syndrome

2020 ◽  
Vol 90 (10) ◽  
pp. 2144-2145
Author(s):  
Tat Cheng Ooi ◽  
Daniel Lee ◽  
Charlotte Kwik ◽  
Shahrir Kabir



2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jai Kumar ◽  
Mohammad Irfaan Albeerdy ◽  
Nadeem Ahmed Shaikh ◽  
Abdul Hafeez Qureshi

Abstract Background Peutz-Jeghers syndrome is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract (GIT). There have also been cases of extra GIT polyps such as the renal pelvis, urinary bladder, lungs and nares. Bladder hamartoma is an extremely rare finding, with only 12 cases described in the literature up to now. The rarity of the condition necessitates a comprehensive compilation of managements up to now so as to provide a better tool for the treatment of such conditions in the future. Case presentation A twenty-year-old male, known to have Peutz-Jeghers syndrome, presented to us complaining of obstructive urinary symptoms. A urethrogram done showed a filling defect at the base of the urinary bladder. The mass was resected transurethrally, and histopathology revealed a hamartoma of the bladder. The patient has since remained tumor-free on follow-up. Conclusions Transurethral resection of the bladder mass proved to be an effective therapy in this patient with no recurrence on the patient’s follow-up till now. There is still, however, a dearth of knowledge regarding the management of bladder hamartomas owing to the extreme rarity of the case.



Author(s):  
Peter C. Ambe ◽  
Gabriela Möslein
Keyword(s):  


2017 ◽  
Vol 99 (1) ◽  
pp. e1-e2
Author(s):  
TJ Birriel ◽  
E Smith ◽  
D Eyvazzadeh

Appendiceal intussusception is an rare diagnosis that may be found on imaging or at the time of surgery, as seen in this case of a 33-year-old female presenting with gastrointestinal symptoms. Images are presented with differential diagnosis as well as treatment options.



Cases Journal ◽  
2008 ◽  
Vol 1 (1) ◽  
pp. 135 ◽  
Author(s):  
Efstratios Christianakis ◽  
Anastasios Sakelaropoulos ◽  
Constantinos Papantzimas ◽  
Michael Pitiakoudis ◽  
Georgios Filippou ◽  
...  




Author(s):  
Hirofumi NAKAMOTO ◽  
Tetsurou SUZUKI ◽  
Toshifumi ARAI ◽  
Koji MATSUMOTO ◽  
Tetsuya KUROSAKI ◽  
...  


2017 ◽  
Vol 07 (02) ◽  
pp. 078-082
Author(s):  
Jacquelyn Britton ◽  
Anne Murphy ◽  
Sangeeta Sule ◽  
Sally Mitchell ◽  
Clifford Takemoto ◽  
...  

AbstractJuvenile polyposis (JP) syndrome is characterized by multiple hamartomatous polyps of the gastrointestinal tract. Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectasia in the skin, mucous membranes, and arteriovenous malformations in other organs. Individuals with JP–HHT syndrome have variable features of both rare disorders, attributed to heterozygous mutations in the SMAD4 gene. Systemic juvenile idiopathic arthritis (JIA) is a severe, chronic disease marked by arthritis and systemic inflammation for which the cause remains unknown. JIA has never been described in association with SMAD4-related disease. We describe a case of JP–HHT syndrome with a novel SMAD4 variant, c.1052A > T (p.D351V), in which the child also had JIA manifestation.



2018 ◽  
Vol 113 (Supplement) ◽  
pp. S1229-S1230 ◽  
Author(s):  
Ayusa Sinha ◽  
Ansh Khurana ◽  
Amitpal S. Johal ◽  
Harshit S. Khara
Keyword(s):  


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