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 I A) and SMAD4(mothers against dccapcntaplegic.drosophilia.homologof4).
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
Ju ven i Ic polyposis coli.
Through col laborati vc 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.
