PROMOTING ACCESS TO AFRICAN RESEARCH

Nigerian Journal of Family Practice

Log in or Register to get access to full text downloads.

Remember me or Register



DOWNLOAD FULL TEXT Open Access  DOWNLOAD FULL TEXT Subscription or Fee Access

Juvenile Polyposis coli in a 9 year old boy

Edwin Oseni-Momodu, Chima A.A. George, Pius Ameh, Adam Lee, Paul Ushie, Lengmang Sunday, Judy Ho

Abstract


Juvenile Polyposis syndrome (JPS) is a rare disease condition characterised by development of multiple polyps commoner in the colo – rectum. An autosomal dominant condition usually associated with mutations in 2 genes – BMPRIA (bone morphogenic protein receptor, type 1A) and SMAD4 (mothers against decapentaplegic, drosophilia, homolog of 4).

The authors present the case of a nine year old male from a poor family in Kano, North West Nigeria but residing in Jos, whose parents were terrified by his frequent passage of bloody stool and on one occasion passed a strange object in the stool that turned out to be Juvenile polyposis coli.

Through collaborative effort of the authors and their partner in Hong Kong, screened the entire family and sent samples to Hong Kong for further gene analysis. The gene analysis is expected to reveal a genetic background of an autosomal dominant genetic disorder that will justify the screening of the entire family for Juvenile Polyposis Syndrome. Such information is necessary to start Familial Polyposis Coli register.

No case of JPS has been reported in North Central, Nigeria where the authors practice, this being the very first from ECWA Evangel Hospital now Bingham University Teaching Hospital; since its inception in 1959.

Keywords: Juvenile polyposis syndrome, Juvenile polyposis coli, colo-rectum, Polyps, auto-amputation




AJOL African Journals Online