JUVENILE POLYPOSIS SYNDROME IN A YOUNG PATIENT : A RARE CASE REPORT Affiliation

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.


INTRODUCTION
Juvenile polyposis syndrome is a rare autosomal dominant disease characterized by different size of polyps, most commonly seen in the colorectal segment of large 1 intes ne.The term "juvenile" indicates for the type of polyp not the age of the pa ent when the polyp develops 2 hence it can be seen in any age group.More than 20% of Juvenile polyposis syndrome pa ents are found to have inborn defect of different organs like Meckel's diver cula with umbilical fistula, undescended testes, unilateral renal agenesis, split uterus, arterionevoushaemangiomas, stenosis of the The common presenta ons are anemia most commonly due to chronic recurrent gastrointes nal bleeding, and diarrhea however some cases had been associated with surgical abdomen like rectal prolapse and intussuscep on, or medical complica ons like protein losing enteropathy, 6 starva on and malnutri on.

CASE REPORT
A 16 year old boy presented with anemia, hypoalbumenia and bleeding per rectum associated with mass coming out per anus for 2 to 3 years.He had alterna ng diarrhea and cons pa on with episodic mild abdominal pain.Colonoscopy showed mul ple polyps of varying size of both sessile and pedunculated in the rectum and en re colon.Polyps from rectum were sent for histopathological examina on revealing benign adenoma.Clinical diagnosis of Familial Adenomatous Polyposis was made and counseled for pan-colectomy.
Macroscopy examina on on cut opening of specimen mul ple colorectal polyps of varying sizes on the mucosal surface was present.The outer surface of polyp was glistening.It was smooth to touch.Cut surface revealed solid gray white to tan red with few cys c spaces contains jelly like material of size ranging from 0.1 to 0.2cm.Microscopy examina on of the representa ve sec on from en re ssue showed mul ple polypoidal ssue revealing tortous gland with budding and branching.(Figure 1) The glands were lined by mucus secre ng columnar cells and contain eosinophilic material.The stroma between the glands contained acute and chronic inflammatory cells as well as granula on ssue and hemorrhage.The overlying lining epithelium was partly eroded and erosion free areas were lined by tall columnar cells.(Figure 2

DISCUSSION
Juvenile polyposis syndrome is an autosomal dominant condi on diagnosed on occurrence hamartomatous gastrointes nal polyps .Pa ents with juvenile polyposis syndrome are likely to carry gene carriers to various types of tumors.The hamartomatous polyps may turn into 7 malignant lesions in approximately 20% of cases.Juvenile polyposis syndrome demonstrated different heterozygous muta ons most commonly SMAD4 and BMPR1 on chromososme 10q21 located on chromosome 18q21 8 respec vely.Evidence of muta on of SMAD4 gene in the family with one member especially siblings or children 9 affected has theore cal risk of being carriers of 50% .Molecular diagnos cs is to op mize preven on, early diagnosis and management at the family level as the chances of malignant transforma on is very high.
In our pa ent there was a family history of rectal polyp and had history of malignancy to cousin.In case of posi ve family history like the case rou ne screening colonoscopy is recommended from the age of 10 -12 years, every 2 years un l age 40 or beyond if we had screened for gene c muta on.As the muta on detec on was out of scope in our se ngs we strongly recommend colonoscopy screening 9 among all rela ves at high risk.
The occurrence of juvenile polyposis syndrome is between 10 1 in 16,000 and 1 in 100,000.Majority of pa ent develop symptoms by the me of 20 years old.The polyps for unknown reason are most o en grow in the large intes ne (colon) and rectum as in our case however rare growth in 10 the stomach and the small intes ne has been documented.
Macroscopically it varies in size from 5mm to 50mm and has spherical, lobulated and pedunculated appearance with surface erosion.Microscopically a juvenile polyposis is characterized bypresence of abundant of inflammatory cells at edematous laminapropria with and cyst like glands lined by cuboidal to columnar epithelium that has reac ve 11 changes within the dilated gland.These polyps may be the seat of focus of dysplasia and in some cases; true adenomas were described in their 11 vicinity.Our pa ent macroscopically and microscopically showed as solitary juvenile polyposis syndrome, neither a con ngent of adenomas or dysplasia.
The treatment depends on the clinical presenta on, loca on and number of polyps.Rou ne colonoscopy screening with endoscopic polypectomyif needed is the most effec ve treatment of solitary polyps.However surgical interven on like subtotal or total gastrectomy or pan colectomy is recommended in case of mul ple number of polyps that minimize the symptoms and to prevent 12 malignancy transforma on in future.
Pan colectomy in our pa ent was defini ve cure for rectal bleeding and preven on of development of malignancy.

CONCLUSION
Juvenile polyposis syndrome is a rare disease usually seen among teens but can be fatal or incurable that can be prevented by surgical interven on.The screening of subclinical disease in family with colonoscopy is beneficial.

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pulmonary valve, macrocephaly and intermi ent porphyria.In 1975 the diagnos c criteria for juvenile polyposis syndrome 4 was established.This criteria was revised by Jass et.al. in 1988 men oning one of following three criteria must be present: 1. >5 juvenile polyps in the large intes ne or/and 2. Mul ple juvenile polyps throughout the gastrointes nal tract or/and 3. Any number of juvenile polyps with a family history of juvenile polyposis Posi ve family history has been associated with 20 -50% of 3 affected pa ents.Children with Juvenile polyposis are 5 suscep ble to gastrointes nal cancers.
and 3) Diagnosis of Juvenile Polyposis Syndrome was made on the basis of histopathology.

Figure 1 :
Figure 1: Low power view reveals polypoidal ssue having cys c like glands with budding and branching.(Magnifica on 10X)

Figure 3 :Figure 2 :
Figure 3: High power view reveals glands lined by mucus secre ng columnar cells.Stroma is edematous and inflammatory cells infiltrates with granula on ssue.