Apple peel syndrome
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:
- Hydramnios
- mostly premature birth with low birth weight
- postpartum (bilious) vomiting
- increasing distension of the abdomen
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
- ↑ 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 .
- ↑ a b c d Atresia of the small intestine. In: Orphanet (Rare Disease Database).
- ↑ a b A. KP Skandhan and F. Gaillard: Apple peel intestinal atresia. In: Radiopaedia
- ↑ 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).
- ↑ 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
- ↑ 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 .
- ↑ 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 .
- ^ 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).
- ↑ 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 .
- ^ 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).
- ↑ Michael B. Krawinkel, Dietmar Scholz u. a .: Chronic Intestinal Failure in Children. In: Deutsches Aerzteblatt Online. 2012, doi: 10.3238 / arztebl.2012.0409 .
- ↑ 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 .
- ↑ 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 .
- ^ 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 .
- ↑ 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 .
- ^ 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 .
- ↑ 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
- Jejunal atresia. In: Online Mendelian Inheritance in Man . (English)