Apple-peel intestinal atresia
Last revised by Kyriacos S. Evangelou on 29 Jul 2021
Citation, DOI, disclosures and article data
Citation:
Gaillard F, Evangelou K, Rahman F, et al. Apple-peel intestinal atresia. Reference article, Radiopaedia.org (Accessed on 06 Oct 2024) https://doi.org/10.53347/rID-923
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rID:
923
Article created:
Disclosures:
At the time the article was created Frank Gaillard had no recorded disclosures.
View Frank Gaillard's current disclosures
Last revised:
29 Jul 2021,
Kyriacos S. Evangelou
Disclosures:
At the time the article was last revised Kyriacos S. Evangelou had no recorded disclosures.
View Kyriacos S. Evangelou's current disclosures
Revisions:
5 times, by
5 contributors -
see full revision history and disclosures
Systems:
Sections:
Synonyms:
- Christmas tree intestinal atresia
- Apple-peel atresia
Apple-peel intestinal atresia, also known as type IIIb or Christmas tree intestinal atresia, is a rare form of small bowel atresia in which the duodenum or proximal jejunum ends in a blind pouch and the distal small bowel wraps around its vascular supply in a spiral resembling an apple peel. Often a vast segment of small bowel is absent.
While apple-peel intestinal atresia is usually reported as an isolated malformation, it has been associated with malrotation. Additionally, syndromic association has been reported with microcephaly and ocular anomalies.
There is evidence that NOTCH1-gene mutations may contribute to the disease's prevalance, unveiling the possibility of a partially hereditary pattern of pathology 7.
See also
References
- 1. Applegate KE, Anderson JM, Klatte EC. Intestinal malrotation in children: a problem-solving approach to the upper gastrointestinal series. Radiographics. 26 (5): 1485-500. doi:10.1148/rg.265055167 - Pubmed citation
- 2. Bellini C, Mazzella M, Arioni C et-al. "Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study. Am. J. Med. Genet. 2002;110 (2): 176-8. doi:10.1002/ajmg.10392 - Pubmed citation
- 3. Dalla vecchia LK, Grosfeld JL, West KW et-al. Intestinal atresia and stenosis: a 25-year experience with 277 cases. Arch Surg. 1998;133 (5): 490-6. Arch Surg (link) - Pubmed citation
- 4. Slee J, Goldblatt J. Further evidence for a syndrome of "apple peel" intestinal atresia, ocular anomalies and microcephaly. Clin. Genet. 1996;50 (4): 260-2. - Pubmed citation
- 5. Strømme P, Dahl E, Flage T et-al. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. Clin. Genet. 1993;44 (4): 208-10. - Pubmed citation
- 6. Strømme P, Andersen W. Developmental aspects in apple peel intestinal atresia-ocular anomalies-microcephaly syndrome. Clin. Genet. 1997;52 (2): 133. - Pubmed citation
- 7. M. Cristina Digilio, Monia Magliozzi, Alessandra Di Pede, Laura Valfrè, Maria Lisa Dentici, Cinzia Auriti, Bruno Marino, Antonio Novelli, Bruno Dallapiccola. Familial aggregation of “apple peel” intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations. (2019) American Journal of Medical Genetics Part A. 179 (8): 1570. doi:10.1002/ajmg.a.61195
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