Apple peel syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q41.1 Congenital absence, atresia and stenosis of the jejunum - hereditary jejunal atresia [apple peel syndrome]
ICD-10 online (WHO version 2019)

The apple peel syndrome is a very rare congenital malformation with a lack ( agenesis ) of the root of the small intestine ( mesentery ), mostly in the jejunum, with a typical spiral structure of the underdeveloped ( hypoplastic ) intestinal sections.

Synonyms are: hereditary jejunal atresia; Apple peel syndrome; Type IIIb intestinal atresia; English Christmas tree deformity; Christmas tree intestinal atresia

The first description comes from 1961 by the US surgeons Thomas V. Santulli and WA Blanc.

distribution

The frequency is given as 1 - 5 newborns, there is a familial cluster.

There is an association with malrotation and syndromes with microcephaly and ocular malformations such as Strømme's syndrome (Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome) and other malformations.

root cause

In this syndrome there is an intrauterine obliteration (occlusion) of the superior mesenteric artery , so that large parts of the artery and mesentery are missing. Vascular occlusions caused by volvulus or malrotation are possible causes .

Clinical manifestations

Clinical criteria are:

It can be a manifestation of cystic fibrosis .

diagnosis

The intestinal loops lying in front of the first obstacle are inflated, the affected intestinal sections are wound around a mesenteric vessel like a corkscrew with multiple ischemias and atresia . The length of the small intestine is (significantly) shortened. The colon has collapsed.

Even before the birth, the diagnosis can be presumed using fine ultrasound , and the birth and subsequent procedures can be planned. The prenatal sonographic detection determines an optimal peripartum management.

In the X-ray (abdomen overview), the dilated intestinal sections, in the colonic contrast enema, the microcolon and the spiral-shaped windings of the distal small intestine can be seen.

If the length of the small intestine is preserved, the duodeno-jejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery syndrome should be delineated.

therapy

The treatment is performed surgically . The main problem is the short bowel syndrome , which is already present due to the malformation itself and is exacerbated by the necessary resections. The conservative treatment of the same is explained under Short Bowel Syndrome # Treatment (Therapy) .

Special surgical procedures from the surgical treatment of short bowel syndrome can be used directly in specialized centers:

  • longitudinal intestinal lengthening and tailoring (LILT) according to Bianchi.
  • Transversal intestine extension by serial transverse enterostomy Procedure (STEP) according to Kim.

Healing prospects

If the prognosis was poor a few decades ago, with death often already in infancy due to sepsis or short bowel syndrome, the outlook has continuously improved.

literature

  • LM Wessel, J. Fuchs, U. Rolle: Correction-congenital-malformations-in-pediatric surgery. In: Deutsches Aerzteblatt Online. 2015, doi: 10.3238 / arztebl.2015.0357 .
  • A. Huster, M. Bahr: Apple peel syndrome as a cause of a fetal ileus. In: Neuropediatrics. 210, 2006, doi: 10.1055 / s-2006-946501 .
  • JJ Weitzmann, RS Vanderhoof: Jejunal atresia with agenesis of the dorsal mesentery. In: Am J Surg 111, 1966, pp. 443-449
  • Marcel Bettex (ed.), Max Grob (introductory), D. Berger (editing), N. Genton, M. Stockmann: Pediatric Surgery. Diagnostics, indication, therapy, prognosis. 2nd, revised edition, Thieme, Stuttgart / New York 1982, p. 748, ISBN 3-13-338102-4

Individual evidence

  1. a b c d e Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. a b c d Atresia of the small intestine. In: Orphanet (Rare Disease Database).
  3. a b A. KP Skandhan and F. Gaillard: Apple peel intestinal atresia. In: Radiopaedia
  4. TV Santulli, WA Blanc: Congenital atresia of the intestine: pathogenesis and treatment. In: Annals of surgery. Volume 154, December 1961, pp. 939-948, PMID 14497096 , PMC 1465932 (free full text).
  5. a b c S. B. Appel: Intestinal atresia - an overview work. Diploma thesis to obtain the academic degree of Doctor of Medicine (Dr. med.univ.) At the Medical University of Graz, 2017
  6. MC Digilio, M. Magliozzi, A. Di Pede, L. Valfrè, ML Dentici, C. Auriti, B. Marino, A. Novelli, B. Dallapiccola: Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations. In: American journal of medical genetics. Part A. Volume 179, number 8, August 2019, pp. 1570–1574, doi: 10.1002 / ajmg.a.61195 , PMID 31111652 .
  7. C. Ozlu, MA Ozen, T. Gursoy, P. Oguzkurt: Apple Peel Atresia with Isolated Fetal Ascites and Digit Anomalies. In: Indian journal of pediatrics. Volume 86, Number 8, August 2019, p. 751, doi: 10.1007 / s12098-019-02921-8 , PMID 30838531 .
  8. ^ PK Tripathy, K. Pattnaik, PK Jena, HK Mohanty: Apple-Peel Intestinal Atresia Along with Isolated Jejunal Duplication Cyst in a Newborn - An Extremely Rare Case Report and Brief Review. In: Journal of clinical and diagnostic research: JCDR. Volume 11, number 6, June 2017, pp. SD01 – SD02, doi: 10.7860 / JCDR / 2017 / 26900.10123 , PMID 28764258 , PMC 5535448 (free full text).
  9. T. Ernst, P. Kiene, D. Reitz, B. Wittekindt, U. Rolle, F. Louwen, S. Grüßner: The Apple-Peel Syndrome - Peripartales Management in Hereditary Small Intestinal Atresia . In: Ultrasound in Medicine - European Journal of Ultrasound. 35, 2014, doi: 10.1055 / s-0034-1389451 .
  10. ^ JH Seashore, FS Collins, RI Markowitz, MR Seashore: Familial apple peel jejunal atresia: surgical, genetic, and radiographic aspects. In: Pediatrics. Volume 80, Number 4, October 1987, pp. 540-544, PMID 3309863 (review).
  11. Michael B. Krawinkel, Dietmar Scholz u. a .: Chronic Intestinal Failure in Children. In: Deutsches Aerzteblatt Online. 2012, doi: 10.3238 / arztebl.2012.0409 .
  12. G. Frongia, M. Kessler, S. Weih et al .: Comparison of LILT and STEP procedures in children with short bowel syndrome - A systematic review of the literature. In: Journal of Pediatric Surgery. 48, 2013, p. 1794, doi: 10.1016 / j.jpedsurg.2013.05.018 .
  13. LS Onofre, RF Maranhão, EC Martins, CG Fachin, JL Martins: Apple-peel intestinal atresia: enteroplasty for intestinal lengthening and primary anastomosis. In: Journal of pediatric surgery. Volume 48, number 6, June 2013, pp. E5-E7, doi: 10.1016 / j.jpedsurg.2013.04.024 , PMID 23845656 .
  14. ^ A. Bianchi: Intestinal loop lengthening - a technique for increasing small intestinal length. In: Journal of pediatric surgery. Volume 15, Number 2, April 1980, pp. 145-151, doi: 10.1016 / s0022-3468 (80) 80005-4 , PMID 7373489 .
  15. HB Kim, D. Fauza, J. Garza, JT Oh, S. Nurko, T. Jaksic: Serial transverse enteroplasty (STEP): a novel bowel lengthening procedure. In: Journal of pediatric surgery. Volume 38, Number 3, March 2003, pp. 425-429, doi: 10.1053 / jpsu.2003.50073 , PMID 12632361 .
  16. ^ JH Waldhausen, RS Sawin: Improved long-term outcome for patients with jejunoileal apple peel atresia. In: Journal of pediatric surgery. Volume 32, Number 9, September 1997, pp. 1307-1309, doi: 10.1016 / s0022-3468 (97) 90308-0 , PMID 9314249 .
  17. S. Festen, JC Brevoord, GA Goldhoorn, C. Festen, FW Hazebroek, LW van Heurn, ZJ de Langen, DC van Der Zee, DC Aronson: Excellent long-term outcome for survivors of apple peel atresia. In: Journal of pediatric surgery. Volume 37, Number 1, January 2002, pp. 61-65, doi: 10.1053 / jpsu.2002.29428 , PMID 11781988 .

Web links