- Email: [email protected]
Ulcerative colitis in a child with partial trisomy 16
Journal of Crohn's and Colitis (2013) 7, e403 Available online at www.sciencedirect.com
ScienceDirect
LETTER TO THE EDITOR Ulcerative colitis in a child with partial trisomy 16
Dear Sir,
Full trisomy 16 is incompatible with life and will always result in spontaneous abortion. In fact, it is one of the most common causes of miscarriage. 1 Patients with partial, or mosaic trisomy 16, however, can survive and live for many years. The reported cases of partial trisomy 16 in the literature have been associated with a variety of abnormalities including intrauterine growth retardation, hypotonia, facial abnormalities, failure to thrive, psychomotor delay, cardiac defects, ambiguous genitalia, and anomalies of the gut and ano-rectum. 2,3 To our knowledge, there are no reported cases of inflammatory bowel disease in a patient with partial trisomy 16. We present a 10 year old female with partial trisomy 16 and developmental delay with a 5 week history of acute onset diarrhea. Initial exam was unremarkable except for dysmorphic facial features and underweight relative to height. Lab results were significant for mild anemia, thrombocytosis, and significantly elevated perinuclear anti-nuclear cytoplasmic antibody (pANCA) level of 120.2 EU/ml. Markers for Crohn's disease were negative. An upper endoscopy and colonoscopy revealed moderately erythematous mucosa and exudate throughout the colon. Esophagus, stomach, duodenum and terminal ileum appeared normal. Biopsies confirmed pancolitis. The patient was given a diagnosis of ulcerative colitis and treated initially with sulfasalazine, and subsequently 6-mercaptopurine. The genetic basis of inflammatory bowel disease is a growing area of research. Over 100 susceptibility loci for inflammatory bowel disease have been discovered, the most well-known being NOD2 (also known as CARD15 or IBD1) which lies on chromosome 16. 4 Many of these loci have been associated with both Crohn's disease and ulcerative colitis. 4 NOD2 has been strongly associated with Crohn's disease, but also with ulcerative colitis. 5 Although it is reasonable to assume that trisomy 16 could result in overexpression of the NOD2 gene and contribute to
the development of IBD, there are no reported cases of trisomy 16-associated IBD in the literature. As more children with potentially fatal genetic conditions are living longer and IBD is becoming more prevalent, we can expect to see more cases of IBD in this group of patients. Whether this is due to a true association remains to be seen.
Conflict of interest statement None of the authors of this study (Rebecca Abell, DO, Janet Difalco, NP, and Jeffrey Morganstern, MD) have any conflicts of interest to disclose.
References 1. Current diagnosis & treatments: obstetrics & gynecology. 10th ed. New York: McGraw-Hill; 2007. 2. Benn P. Trisomy 16 and trisomy 16 mosaicism: a review. Am J Med Genet Sep 1 1998;79(2):121–33. 3. Langlois S, Yong PJ, Yong SL, Barrett I, Kalousek DK, Miny P, et al. Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism. Prenat Diagn Jun 2006;26(6):548–58. 4. Cho JH, Brant SR. Recent insights into the genetics of inflammatory bowel disease. Gastroenterology May 2011;140(6):1704–12. 5. Mirza MM, Lee J, Teare D, Hugot JP, Laurent-Puig P, Colombel JF, et al. Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis. J Med Genet Mar 1998;35(3):218–21 [PubMed PMID: 9541106; PubMed Central PMCID: PMC1051245].
Rebecca Abell⁎ Janet Difalco Jeffrey Morganstern Stony Brook Long Island Children's Hospital, Stony Brook, NY, USA ⁎Corresponding author. Tel.: + 1 631 444 8115. E-mail address: [email protected]. 3 April 2013
1873-9946/$ - see front matter © 2013 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved. http://dx.doi.org/10.1016/j.crohns.2013.04.004
ScienceDirect
LETTER TO THE EDITOR Ulcerative colitis in a child with partial trisomy 16
Dear Sir,
Full trisomy 16 is incompatible with life and will always result in spontaneous abortion. In fact, it is one of the most common causes of miscarriage. 1 Patients with partial, or mosaic trisomy 16, however, can survive and live for many years. The reported cases of partial trisomy 16 in the literature have been associated with a variety of abnormalities including intrauterine growth retardation, hypotonia, facial abnormalities, failure to thrive, psychomotor delay, cardiac defects, ambiguous genitalia, and anomalies of the gut and ano-rectum. 2,3 To our knowledge, there are no reported cases of inflammatory bowel disease in a patient with partial trisomy 16. We present a 10 year old female with partial trisomy 16 and developmental delay with a 5 week history of acute onset diarrhea. Initial exam was unremarkable except for dysmorphic facial features and underweight relative to height. Lab results were significant for mild anemia, thrombocytosis, and significantly elevated perinuclear anti-nuclear cytoplasmic antibody (pANCA) level of 120.2 EU/ml. Markers for Crohn's disease were negative. An upper endoscopy and colonoscopy revealed moderately erythematous mucosa and exudate throughout the colon. Esophagus, stomach, duodenum and terminal ileum appeared normal. Biopsies confirmed pancolitis. The patient was given a diagnosis of ulcerative colitis and treated initially with sulfasalazine, and subsequently 6-mercaptopurine. The genetic basis of inflammatory bowel disease is a growing area of research. Over 100 susceptibility loci for inflammatory bowel disease have been discovered, the most well-known being NOD2 (also known as CARD15 or IBD1) which lies on chromosome 16. 4 Many of these loci have been associated with both Crohn's disease and ulcerative colitis. 4 NOD2 has been strongly associated with Crohn's disease, but also with ulcerative colitis. 5 Although it is reasonable to assume that trisomy 16 could result in overexpression of the NOD2 gene and contribute to
the development of IBD, there are no reported cases of trisomy 16-associated IBD in the literature. As more children with potentially fatal genetic conditions are living longer and IBD is becoming more prevalent, we can expect to see more cases of IBD in this group of patients. Whether this is due to a true association remains to be seen.
Conflict of interest statement None of the authors of this study (Rebecca Abell, DO, Janet Difalco, NP, and Jeffrey Morganstern, MD) have any conflicts of interest to disclose.
References 1. Current diagnosis & treatments: obstetrics & gynecology. 10th ed. New York: McGraw-Hill; 2007. 2. Benn P. Trisomy 16 and trisomy 16 mosaicism: a review. Am J Med Genet Sep 1 1998;79(2):121–33. 3. Langlois S, Yong PJ, Yong SL, Barrett I, Kalousek DK, Miny P, et al. Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism. Prenat Diagn Jun 2006;26(6):548–58. 4. Cho JH, Brant SR. Recent insights into the genetics of inflammatory bowel disease. Gastroenterology May 2011;140(6):1704–12. 5. Mirza MM, Lee J, Teare D, Hugot JP, Laurent-Puig P, Colombel JF, et al. Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis. J Med Genet Mar 1998;35(3):218–21 [PubMed PMID: 9541106; PubMed Central PMCID: PMC1051245].
Rebecca Abell⁎ Janet Difalco Jeffrey Morganstern Stony Brook Long Island Children's Hospital, Stony Brook, NY, USA ⁎Corresponding author. Tel.: + 1 631 444 8115. E-mail address: [email protected]. 3 April 2013
1873-9946/$ - see front matter © 2013 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved. http://dx.doi.org/10.1016/j.crohns.2013.04.004