juvenile polyposis syndrome , a rare disorder in children , is characterized with multiple hamartomatous polyps in alimentary tract .
a variety of manifestations include bleeding , intussusception , or polyp prolapse . in this study , we present an 8-month - old male infant of juvenile polyposis syndrome initially presenting with chronic anemia . to the best of our knowledge ,
we report a rare case of an 8-month - old male infant who presented with chronic anemia and gastrointestinal bleeding initially .
panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception .
technetium-99m - labeled red blood cell ( rbc ) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum .
histopathological examination on biopsy samples showed peutz - jeghers syndrome was excluded , whereas the diagnosis of juvenile polyposis syndrome was established .
however , polyps recurred and occupied the majority of the gastrointestinal tract in 6 months .
juvenile polyposis syndrome is an inherited disease , so it is not possible to prevent it .
concerning of its poor outcome and high mortality rate , it is important that we should increase awareness and education of the parents at its earliest stages .
it has been shown that affected children are susceptible to cancers and fatal medical conditions .
the common presentations include anemia , recurrent gastrointestinal bleeding , diarrhea , rectal prolapse , intussusception , protein - losing enteropathy , starvation , and malnutrition .
an 8-month - old male infant presented melena and iron deficiency anemia with hematocrit of 10.6% and hemoglobin of 2.9  g / dl .
panendoscopy revealed several polypoid lesions with ulceration over the body and the prepyloric area , which were bleeding to touch ( fig .
computed tomography depicted numerous nodules throughout the entire alimentary tract , indicating intestinal polyposis ( fig .
panendoscopy : at least 6 polypoid lesions over gastric body and prepyloric area with ulceration and touch bleeding .
abdominal computed tomography showed multiple nodules within the stomach , small intestine ( including duodenum , jejunum , and ileum ) , and descending colon leading to intussusception . owing to uncorrectable anemia as well as sonography constantly demonstrating intussusceptions ( figs . 3 and 4 ) , laparoscopy - assisted enteroscopic polypectomy and reduction of intussusceptions were performed ( fig .
the pathology report described hamartomatous polyps with elongation , tortuosity , and dilatation of the gastric foveae and intestinal mucosal glands .
the underlying stroma is characterized by broadband smooth muscle fibers , intermingling with the glands ( fig .
technetium-99m - labeled rbc bleeding scan : the possibility of gastrointestinal tract bleeding in the jejunum .
-1 polypectomy and reduction of intussusceptions : ( a ) 2 intussusceptions were found , 1 at 20  cm distal to treitz ligament and another 1 at jejunoileal junction .
( b , d ) numerous polyps were found in whole small bowel , especially in jejunum .
microscopically , hamartomatous polyps composed of elongation , tortuosity , and dilatation of the gastric foveolae and intestinal mucosal glands .
the underlying stroma is characterized by broadband smooth muscle fibers , intermingling with the glands .
thereafter , the patient suffered from multiple episodes of anemia , gastrointestinal hemorrhage , rectal prolapsed polyps , symptomatic colic - colic intussusceptions requiring radiologic reductions , protein - losing enteropathy , and immunodeficiency .
it was our impression that the immunodeficiency was secondary to the remarkable protein - losing enteropathy and malnutrition .
human immunodeficiency virus ( hiv ) infection was excluded due to negative maternal hiv testing during prenatal checkups .
it is not a routine in our institution to conduct another hiv examination before 24 months of age in infants with prior negative virologic tests .
the serology study showed notably hypoglobulinemia with igg of 115  mg / dl and igm of 33 mg / dl .
complement levels were also significantly below the normal limits with c3 of 51 mg / dl and c4 of 7 mg / dl .
intravenous immunoglobulin was administered . in 6 months , polyps recurred and occupied the majority of the gastrointestinal tract .
juvenile polyps are mostly solitary , influencing approximately 1% of preschool and school - aged children .
juvenile polyposis syndrome may extensively affect a large portion of alimentary tract , and be usually related to malignant potential .
it has been known with 3 subtypes : diffuse juvenile polyposis of infancy ( < 6 months of age ) , diffuse juvenile polyposis ( 6 months5 years of age ) , and juvenile polyposis coli ( 515 years of age ) .
histologically , the polyps in juvenile polyposis syndrome are composed of mucous filled , dilated glands that are often associated with inflammatory cell infiltration . unlike those in peutz - jeghers syndrome , smooth muscle proliferation is rarely seen .
nevertheless , the polyps consisted of smooth muscle bands in stroma in this case . peutz - jeghers syndrome was initially suspected . however , the patient had neither relevant family history nor oral pigmented lesions that were highly associated with peutz - jeghers syndrome .
peutz - jeghers syndrome was excluded , whereas the diagnosis of juvenile polyposis syndrome was established .
it is featured with widespread hamartomatous polyps in the entire gastrointestinal tract in infants < 6 months of age .
the initial manifestations of anemia and gastrointestinal bleeding were present at 8 months of age .
we presumed that this patient should be categorized to juvenile polyposis of infancy . with regard to treatment , surgery is the mainstay to remove polyps .
however , repeated operations are usually required because recurrence is not uncommon . in our case ,
redo enteroscopic polypectomy was technically difficult as well as might bear much higher risks , so it was abandoned . as nearly the entire small bowel is involved , resection of affected bowels was less considered because it would lead to prominent intestinal failure .
the decision was made to perform supportive treatment . to the best of our knowledge ,
 abstractbackground : juvenile polyposis syndrome , a rare disorder in children , is characterized with multiple hamartomatous polyps in alimentary tract . 
 a variety of manifestations include bleeding , intussusception , or polyp prolapse . in this study , we present an 8-month - old male infant of juvenile polyposis syndrome initially presenting with chronic anemia . to the best of our knowledge , 
 this is the youngest case reported in the literature.methods:we report a rare case of an 8-month - old male infant who presented with chronic anemia and gastrointestinal bleeding initially . 
 panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception . 
 technetium-99m - labeled red blood cell ( rbc ) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum . 
 histopathological examination on biopsy samples showed peutz - jeghers syndrome was excluded , whereas the diagnosis of juvenile polyposis syndrome was established.results:enteroscopic polypectomy is the mainstay of the treatment . 
 however , polyps recurred and occupied the majority of the gastrointestinal tract in 6 months . 
 supportive management was given . 
 the patient expired for severe sepsis at the age of 18 months.conclusion:juvenile polyposis syndrome is an inherited disease , so it is not possible to prevent it . 
 concerning of its poor outcome and high mortality rate , it is important that we should increase awareness and education of the parents at its earliest stages . 