Juvenile Polyposis Syndrome in a Young Girl from Northern Tanzania

Introduction. Juvenile polyposis syndrome is a rare autosomal dominant disorder in children characterized by multiple polyps in the gastrointestinal tract. A variety of clinical features manifest, including prolapse of a polyp or entire rectum, gastrointestinal bleeding, anaemia, and intussusception. This condition if left unmanaged promptly leads to fatal complications including the development of cancer of the bowel. Case Presentation. A 13-year-old girl with a history of mass protrusion per anus associated with bloody diarrhea. Colonoscopy showed multiple polyps in her large bowel. She underwent total colectomy with ileorectal anastomosis and did clinically well post surgery with no complications. Conclusion. Juvenile polyposis syndrome is an inherited condition with significant morbidity and a high risk of colon malignancy. It is important for early screening and diagnosis and hence management in its early stages as there are no specific standard guidelines for children.

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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

BMJ Case Reports ◽

10.1136/bcr-2020-236855 ◽

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.

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Case presentation: phenotypic expression of BMPR1A mutation in juvenile polyposis syndrome

The American Journal of Gastroenterology ◽

10.1016/s0002-9270(03)01296-6 ◽

2003 ◽

Vol 98 (9) ◽

pp. S177

Author(s):

J KURLAND

Keyword(s):

Phenotypic Expression ◽

Juvenile Polyposis ◽

Juvenile Polyposis Syndrome ◽

Polyposis Syndrome ◽

Case Presentation

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Gastric cancer and paraneoplastic dermatomyositis as complications of an unrecognized juvenile polyposis syndrome

Zeitschrift für Gastroenterologie ◽

10.1055/a-0855-4404 ◽

2019 ◽

Vol 57 (04) ◽

pp. 497-500

Author(s):

Moritz Schiemer ◽

Annette Schmitt-Graeff ◽

Volker Brass ◽

Peter Hasselblatt

Keyword(s):

Gastric Cancer ◽

Histopathological Examination ◽

Juvenile Polyposis ◽

Deficiency Anemia ◽

Fundic Gland ◽

Juvenile Polyposis Syndrome ◽

Autosomal Dominant Disorder ◽

Polyposis Syndrome ◽

Hamartomatous Polyps ◽

Increased Risk

AbstractJuvenile polyposis syndrome is a rare autosomal-dominant disorder characterized by multiple hamartomatous polyps in the gastrointestinal tract. It is associated with an increased risk of gastrointestinal cancer. We report the case of a 49-year-old woman presenting with proximal muscle weakness, weight loss, severe anemia, and melena. One year before, the diagnosis of a “fundic gland polyposis” was presumed after endoscopic evaluation for iron deficiency anemia had shown numerous polyps limited to the gastric mucosa. On admission, the diagnosis of dermatomyositis was made based on laboratory results with a marked elevated creatine kinase as well as the presence of characteristic clinical findings and muscle histology. Upper endoscopy revealed multiple pedunculated, edematous polyps in the stomach without apparent cancerous lesions intraluminally. Infiltration of the muscular layer was not detectable on endoscopic ultrasound. Histopathological examination of the polyps showed smooth outer surfaces and multiple dilated cystic glands, consistent with hamartomatous juvenile-type polyps. Magnetic resonance imaging revealed a peritoneal mass close to the greater curvature of the stomach, which was identified as a poorly differentiated adenocarcinoma by laparoscopic sampling. Immunohistochemical analysis of resected polyps was remarkable for a loss of SMAD4 expression, a finding that is very commonly observed in patients with gastric juvenile polyposis syndrome. Despite initial treatment response to glucocorticoids and chemotherapy, the patient died 5 months later due to progressive illness. Patients with gastric juvenile polyposis and SMAD4 mutations are at a high risk of developing gastric cancer; hence, early gastrectomy should be considered.

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CASE PRESENTATION: PHENOTYPIC EXPRESSION OF BMPR1A MUTATION IN JUVENILE POLYPOSIS SYNDROME

The American Journal of Gastroenterology ◽

10.1111/j.1572-0241.2003.08263.x ◽

2003 ◽

Vol 98 ◽

pp. S177

Author(s):

Jayde E. Kurland ◽

Oscar S. Brann ◽

Walter J. Coyle

Keyword(s):

Phenotypic Expression ◽

Juvenile Polyposis ◽

Juvenile Polyposis Syndrome ◽

Polyposis Syndrome ◽

Case Presentation

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Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report

BMC Medical Genetics ◽

10.1186/s12881-020-01135-6 ◽

2020 ◽

Vol 21 (1) ◽

Author(s):

Qing Liu ◽

Mengling Liu ◽

Tianshu Liu ◽

Yiyi Yu

Keyword(s):

De Novo ◽

Missense Variant ◽

Juvenile Polyposis ◽

Juvenile Polyposis Syndrome ◽

Population Database ◽

Polyposis Syndrome ◽

Case Presentation ◽

Increased Risk ◽

Genetics And Genomics ◽

Cancer Germline

Abstract Background Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of colorectal cancer. Germline mutations in two genes, SMAD4 and BMPR1A, have been identified to cause JPS. Case presentation Here, we report a germline heterozygous missense variant (c.299G > A) in exon 3 BMPR1A gene in a family with juvenile polyposis. This variant was absent from the population database, and concluded as de novo compared with the parental sequencing. Further sequencing of the proband’s children confirmed the segregation of this variant with the disease, while the variant was also predicted to have damaging effect based on online prediction tools. Therefore, this variant was classified as likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Conclusions Germline genetic testing revealed a de novo germline missense variant in BMPR1A gene in a family with juvenile polyposis. Identification of the pathogenic variant facilitates the cancer risk management of at-risk family members, and endoscopic surveillance is recommended for mutation carriers.

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