Juvenile polyposis syndrome in young patient: A casereportY Agrawal1, R Shah1, B R Joshi2,V Kattel3Department of Pathology1, Department of Surgery2,Department of Internal Medicine3CorrespondingAuthor: Dr. Yamuna Agrawal Assistant professor, Department of Pathology, BPKIHS, Dharan. Email: [email protected]:Juvenile polyposis syndromeis a rare autosomal dominant disease characterized by different size of polyps, most commonly found in the colorectal segment of large intestine.1 The term”juvenile” refers to the type of polyp rather than the age of the patient whenthe polyp develops.2 The frequency of Juvenile polyposis is approximately one per 100,000 – 160,000 births.
The symptoms usually present in the first andsecond decade however the diagnosis may varies depending upon threshold of the system for screening colonoscopy.3 The diagnostic criteria for juvenile polyposissyndrome was established in 1975 and later was revised by Jass et.al.4According to the revised criteria one of three criteria must be present:1. >5 juvenile polyps in the largeintestine or/and2. Multiple juvenile polyps throughout thegastrointestinal tract or/and3. Any number of juvenile polyps with afamily history of juvenile polyposisFamily history is strongly associated with 20-50% of affected ones.3 Colonic malignancy and fatal medical conditions are associated with children with Juvenile polyposis.
5The most common clinical presentations are anemia, recurrent gastrointestinal bleeding, and diarrheahowever it can be associated with rectal prolapse, intussusception, proteinlosing enteropathy, starvation and malnutrition.6 Casereport:A 16 year old boypresented with anemia, hypoalbumenia and bleeding per rectum associated with masscoming out per anus for 2 to 3 years. He had alternating diarrhea andconstipation with episodic mild abdominal pain. Colonoscopy showed multiplepolyps of varying size of both sessile and pedunculated in the rectum andentire colon. Polyps from rectum were sent for histopathological examinationrevealing benign adenoma. Clinical diagnosis of Familial Adenomatous Polyposiswas made and counseled for pan-colectomy.Macroscopy examinationon cut opening of specimen multiple colorectal polyps of varying sizes on themucosal surface was present. The outer surface of polyp was smooth andglistening.
Cut surface revealed solid gray white to tan red with few cysticspaces contains jelly like material of size ranging from 0.1 to 0.2cm.Microscopy examinationof the representative section from entire tissue showed multiple polypoidaltissue revealing tortous gland with budding and branching. (Figure 1) Theglands were lined by mucus secreting columnar cells and contain eosinophilicmaterial. The stroma in between the glands containing acute and chronicinflammatory cells as well as granulation tissue and hemorrhage. The overlyinglining epithelium was partly eroded and partly lined by tall columnar cells.(Figure 2 and 3) Overall histopathological examination, a diagnosis of JuvenilePolyposis Syndrome was made.
Discussion:Juvenile polyposissyndrome is an autosomal dominant condition that predisposes gene carriers tovarious types of tumors. The diagnosis is based on the occurrence ofhamartomatous gastrointestinal polyps that turn into malignant lesions inapproximately 20% of cases.7Juvenile polyposissyndrome demonstrated different heterozygous mutations in the SMAD4 genelocated on chromosome 18q21.1 and BMPR1 on chromososme 10q21.8 Given the risk of gastrointestinal cancerassociated with juvenile polyposis, molecular diagnostics optimize managementat the family level within a genetics consultation. When the casual mutation ofSMAD4 is evidence in the family, based on one member affected, research may beextended to relatives at risk, especially to siblings and children whosetheoretical risk of being carriers is 50%9.
In our patient therewas a family history of rectal polyp and had history of malignancy to cousin.In case of family history this analysis allows routine screening colonoscopy isrecommended from the age of 10 -12 years, colonoscopy must be performed every 2years until age 40 or beyond if a genetic diagnosis has been established. Whenthe mutation is not identified monitoring should be considered in all relativesat high risk.9It is estimated thatbetween 1 in 16,000 and 1 in 100,000 people has juvenile polyposis syndrome.
10Most people develop symptoms by the time of 20 years old. It is most often growingin the large intestine (colon) and rectum as in our case but also grows in thestomach and more rarely the small intestine.10 Macroscopically itvaries in size from 5mm to 50mm and has spherical, lobulated and pedunculatedappearance with surface erosion.
Microscopically a juvenile polyposis ischaracterized by an abundance of edematous lamina propria with inflammatorycells and cystically dilated glands lined by cuboidal to columnar epitheliumwith reactive changes.11These polyps may be theseat of focus of dysplasia and in some cases; true adenomas were described intheir vicinity.11 Our patient macroscopically and microscopicallyshowed as solitary juvenile polyposis syndrome, neither a contingent ofadenomas or dysplasia. The treatment dependson the clinical presentation, location and number of polyps. Routinecolonoscopy with endoscopic polypectomy is the most effective treatment ofsolitary polyps. However, subtotal or total gastrectomy or pan colectomy may benecessary to alleviate symptoms and/or reduce cancer risk when a large numberof polyps are present.12Pan colectomy in ourpatient was definitive cure for rectal bleeding and prevention of developmentof malignancy.Conclusion:Juvenile polyposissyndrome is a rare disease usually amongteen but can be fatal or incurable that can be prevented by surgicalintervention.
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