Abstract
Juvenile polyposis of infancy is the most severe and life-threatening form of juvenile
polyposis. This disease typically presents in the first two years of life with gastrointestinal
bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning
this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing
the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis
of juvenile polyposis of infancy at 6 years of age. A 3.34 Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and
BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition,
refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. A
sub-total colectomy, combined with intraoperative endoscopic removal of ileal and
rectal stump polyps, was required for palliative disease control.
Key words
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References
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Article info
Publication history
Accepted:
September 26,
2012
Received in revised form:
September 24,
2012
Received:
July 9,
2012
Identification
Copyright
© 2013 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
