French national reference center for rare anorectal and pelvic malformations (MAREP)
The rare diseases reference center for rare anorectal and pelvic malformations (MAREP) intervenes throughout the multidisciplinary care of children and adults with anomalies of the caudal pole and in particular anorectal malformations, Hirschsprung’s disease or rare pelvic disorders (anomalies of the genital system are excluded): from the announcement of the diagnosis to regular clinical and surgical follow-up, referral to specialized consultations and support from pediatric services to adult services.
The MAREP center at Necker-Enfants malades hospital is the coordinator of the national network, which comprises a constituent center (Marseille) and 28 centers of competence.
This reference center is affiliated with the NeuroSphinx rare diseases healthcare network and the EUROGEN European reference network (ERN) for rare and complex urogenital diseases and conditions.
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The Poop & Pee application is a digital calendar for monitoring stool and urine emissions and any possible leaks, intended to facilitate the exchange of data between the patient and his doctor, to adapt the treatment to improve cleanliness, to help diagnosis, and to encourage the patient to become an actor in his health.
Contact us
Pr Sabine Sarnacki
+33 (0) 1 44 49 41 94
> Send an email
Dr Célia Crétolle
+33 (0) 1 44 49 41 56
> Send an email
In case of emergency
- Isolated and syndromic ano-rectal malformations (including Currarino’s syndrome and VACTERL association)
- Hirschsprung’s disease
- Other malformations of the caudal pole
- Dr Célia Crétolle, infantile visceral surgeon – coordinator of the reference center
- Pr Sabine Sarnacki, infantile visceral surgeon
- Dr Ilona Aloya, pediatrician specialized in functional urinary disorders
- Nathalie Un, perineo-spherical rehabilitator
- Aline Cazenave-Givelet, dietitian
- Giulia Disnan, clinical psychologist
- Caroline Granjon, stoma nurse
- Isabelle Shakia, pediatric nurse and stoma therapist
- Pascale Slamani, nurse coordinator
- Laetitia Benichou, secretary to the Dr Crétolle
- Valérie Dupil, secretary to the Pr Sarnacki
- Acquisition of socially acceptable cleanliness for children with rare anorectal and pelvic malformations and their parents
> Learn more - Therapeutic education of children with digestive and / or urinary continence disorders with digestive and / or urinary stoma and their parents
- Therapeutic education for children with anorectal malformations or Hirschsprung’s disease who have retained stools. In the form of an illustrated tale entitled « Paul in the Digetract kingdom », this immersive adventure at the heart of the digestive tract allows the discovery of the physiological processes at play within the body, from the ingestion of food… digestion, to the elimination of the stool.
> Watch the video of « Paul in the Digetract kingdom »
> Read the booklet of « Paul in the Digetract kingdom »
- Isolated anorectal malformations – Diagnosis and management from birth to age 6 (2021)
- Multidisciplinary care of isolated anorectal malformations: from 6 years to adolescence and the transition to adults (in progress)
- MARQol study = quality of life of patients with anorectal malformations from 8 years to adulthood (national PHRC, study completed in 06/2015)
- Exome sequencing and Currarino Syndrome (Imagine collaboration, in progress)
- Intestinal microbiota and enterocolitis associated with Hirschsprung’s disease (collaboration with Faculty of Pharmacy, Paris 5, in progress)
- Computational anatomy in surgery for tumors and malformations in children (collaboration lab. IMAG2, Imagine, in progress)
- Tumor and development (national PHRC, in progress)
2021
– Pediatric surgery is academic by essence: The French perspective.
Sabine Sarnacki
Semin Pediatr Surg, 2021 Feb, PMID: 33648706 DOI: 10.1016/j.sempedsurg.2021.151022
– Feasibility and safety of magnetic-end double-J ureteral stent insertion and removal in children.
Marc Chalhoub, Jules Kohaut, Nicolas Vinit, Nathalie Botto, Yves Aigrain, Yves Héloury, Henri Lottmann, Thomas Blanc
World J Urol, 2021 May, PMID: 32623499 DOI: 10.1007/s00345-020-03339-0
– Comparison of antegrade and retrograde endoscopic injection techniques for neurogenic sphincteric incontinence in children with neurogenic bladder.
Mohamed Lahlou, Maria Hukkinen, Ilona Alova, Natalie Botto, Alaa Cheikhelard, Thomas Blanc, Henri B Lottmann
J Pediatr Urol, 2021 Aug, PMID: 34119422 DOI: 10.1016/j.jpurol.2021.05.019
– Ultrasound and Fetal MRI Complementary Contributions to Appropriate Counseling in Small Bowel Obstruction.
Hortense Didier-Mathon, David Grévent, Naziha Khen-Dunlop, Pascale Sonigo, Véronique Rousseau, Yves Ville, Nathalie Boddaert, Elsa Kermorvant, Houman Mahallati, Laurent J Salomon, Anne-Élodie Millischer
Fetal Diagn Ther, 2021, PMID: 34461616 DOI: 10.1159/000517728
2020
– Learning curve for robotic surgery in children: a systematic review of outcomes and fellowship programs.
Luca Pio, Layla Musleh, Irene Paraboschi, Angela Pistorio, Guglielmo Mantica, Pauline Clermidi, Lorenzo Leonelli, Girolamo Mattioli, Sabine Sarnacki & Thomas Blanc
J Robot Surg, 2020 Aug, PMID: 31531753 DOI: 10.1007/s11701-019-01026-w
– Multicentric evaluation of the adherence to Peristeen® transanal irrigation system in children.
P Lallemant-Dudek, C Cretolle, F Hameury, J L Lemelle, A Ranke, C Louis-Borrione, V Forin
Ann Phys Rehabil Med, 2020 Jan, PMID: 31051275 DOI: 10.1016/j.rehab.2019.04.003
– Spinal dysraphism as a new entity in V.A.C.TE.R.L syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.
Aymeric Amelot, Célia Cretolle, Timothée de Saint Denis, Sabine Sarnacki, Martin Catala, Michel Zerah
Eur J Pediatr, 2020 Jul, PMID: 32055959 DOI: 10.1007/s00431-020-03609-4
– Biometric and morphological features on magnetic resonance imaging of fetal bladder in lower urinary tract obstruction: new perspectives for fetal cystoscopy.
N. Vinit,D. Grevent,A.-E. Millischer-Bellaiche,V. M. Pandya,P. Sonigo,A. Delmonte,S. Sarnacki,Y. Aigrain,N. Boddaert,B. Bessières,G. Benchimol,L. J. Salomon,J. J. Stirnemann,T. Blanc,Y. Ville
Ultrasound Obstet Gynecol, 2020 Jul, PMID: 31006924 DOI: 10.1002/uog.20297
– Comprehensive Review of 3D Segmentation Software Tools for MRI Usable for Pelvic Surgery Planning.
Alessio Virzì, Cécile Olivia Muller, Jean-Baptiste Marret, Eva Mille, Laureline Berteloot, David Grévent, Nathalie Boddaert, Pietro Gori, Sabine Sarnacki & Isabelle Bloch
J Digit Imaging, 2020 Feb, PMID: 31236743 PMCID: PMC7064712 DOI: 10.1007/s10278-019-00239-7
– Fetal Cystoscopy and Vesicoamniotic Shunting in Lower Urinary Tract Obstruction: Long-Term Outcome and Current Technical Limitations.
Nicolas Vinit, Alexandra Gueneuc, Bettina Bessières, Sophie Dreux, Laurence Heidet, Rémi Salomon, Alexandre Lapillonne, Gaston De Bernardis, Laurent J Salomon, Julien J Stirnemann, Thomas Blanc, Yves Ville
Fetal Diagn Ther, 2020, PMID: 31401627 DOI: 10.1159/000500569
– The use of fetal MRI for renal and urogenital tract anomalies.
Gihad E. Chalouhi,Anne-Élodie Millischer,Houman Mahallati,Nathalie Siauve,Andrew Melbourne,David Grevent,Nicolas Vinit,Laurence Heidet,Yves Aigrain,Yves Ville,Thomas Blanc,Laurent J. Salomon
Prenat Diagn, 2020 Jan, PMID: 31736096 DOI: 10.1002/pd.5610
– Surgical site infection after gastrointestinal surgery in children: an international, multicentre, prospective cohort study.
GlobalSurg Collaborative
BMJ Glob Health, 2020 Dec, PMID: 33272940 PMCID: PMC7716674 DOI: 10.1136/bmjgh-2020-003429
– Variations in the Detection of Anorectal Anomalies at Birth among European Cities.
Bashar Aldeiri , Joseph R. Davidson, Simon Eaton, Riccardo Coletta, Andre Cardoso Almeida, Anna-May Long, Marian Knight, Kate M. Cross, Taieb Chouikh, Barbara Daniela Iacobelli, Sabine Sarnacki, Pietro Bagolan, Celia Cretolle, Sotirios Siminas, Joe I. Curry, Antonino Morabito, Paolo De Coppi
Eur J Pediatr Surg, 2020 Jun, PMID: 31039595 DOI: 10.1055/s-0039-1687868
– Malignancy after Augmentation Enterocystoplasty: A Nationwide Study of Natural History, Prognosis and Oncogene Panel Analysis.
S. Garnier, J. Vendrell, B. Boillot, G. Karsenty, A. Faure, T. Blanc, L. Soustelle, V. Phe, A. Even, E. Chartier-Kastler, P. Ravasse, G. Poinas, B. Leizour, P. Costa, L. Galmiche, F. Iborra, O. Bouali, X. Game, J. Solassol, and N. Kalfa
J Urol, 2020 Jul, PMID: 31957550 DOI: 10.1097/JU.0000000000000752
– ERNICA guidelines for the management of rectosigmoid Hirschsprung »s disease.
Kristiina Kyrklund, Cornelius E. J. Sloots, Ivo de Blaauw, Kristin Bjørnland, Udo Rolle, Duccio Cavalieri, Paola Francalanci, Fabio Fusaro, Annette Lemli, Nicole Schwarzer, Francesco Fascetti-Leon, Nikhil Thapar, Lars Søndergaard Johansen, Dominique Berrebi, Jean-Pierre Hugot, Célia Crétolle, Alice S. Brooks, Robert M. Hofstra, Tomas Wester & Mikko P. Pakarinen
Orphanet J Rare Dis, 2020 Jun 25, PMID: 32586397 PMCID: PMC7318734 DOI: 10.1186/s13023-020-01362-3
– Analysis of enteric nervous system and intestinal epithelial barrier to predict complications in Hirschsprung »s disease.
Anne Dariel, Lucie Grynberg, Marie Auger, Chloé Lefèvre, Tony Durand, Philippe Aubert, Catherine Le Berre-Scoul, Aurélien Venara, Etienne Suply, Marc-David Leclair, Philine de Vries, Guillaume Levard, Benoit Parmentier, Guillaume Podevin, Françoise Schmitt, Véronique Couvrat, Sabine Irtan, Erik Hervieux, Thierry Villemagne, Hubert Lardy, Carmen Capito, Cécile Muller, Sabine Sarnacki, Jean-François Mosnier, Louise Galmiche, Pascal Derkinderen, Hélène Boudin, Charlène Brochard & Michel Neunlist
Sci Rep, 2020 Dec 10, PMID: 33303794 PMCID: PMC7729910 DOI: 10.1038/s41598-020-78340-z
2018
– How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications.
Mottet N, Chaussy Y, Auber F, Guimiot F, Arbez-Gindre F, Riethmuller D,Cretolle C, Benachi A.
J Ultrasound Med. 2018 ; PMID: 29377253 DOI: 10.1002/jum.14522
2017
– Consensus Review of Best Practice of Transanal Irrigation in Children.
Mosiello G, Marshall D, Rolle U, Crétolle C, Santacruz BG, Frischer J, Benninga MA.
J Pediatr Gastroenterol Nutr. 2017; PMID: 27977546 DOI: 10.1097/MPG.0000000000001483
– Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.
Dworschak GC, Crétolle C, Hilger A, Engels H, Korsch E, Reutter H, Ludwig M.
Clin Genet. 2017; PMID: 27549440 DOI: 10.1111/cge.12848
2013
– Anorectal malformations.
CretolleC, Rousseau V, Lottmann H, Irtan S, Lortat-Jacob S, Alova I, Michel JL, Aigrain Y, Podevin G, Lehur PA, Sarnacki S.
Arch Pediatr. 2013 ; PMID: 23992833 DOI: 10.1016/S0929-693X(13)71405-2
2008
– Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.
Crétolle C, Pelet A, Sanlaville D, Zérah M, Amiel J, Jaubert F, Révillon Y, Baala L, Munnich A, Nihoul-Fékété C, Lyonnet S.
Hum Mutat. 2008; PMID: 18449898 DOI: 10.1002/humu.20718
Warning ! Certain images can offend the sensibilities of the youngest as well as the uninformed people.
Hirschsprung’s disease: when the gut malfunctions – Le Magazine de la santé
Operating on rectal and anus malformations – Le Magazine de la santé
Poop&Pee – tutorial for using the doctors’ platform
Poop&Pee – the essential app for chronic incontinence
Poop&Pee – patient tutorial – stool
Poop&Pee – patient tutorial – urine
Paul in the Digetract kingdom : An illustrated story of therapeutic education for children with anorectal malformations or Hirschsprung’s disease with stool retention
7th National Day of the NeuroSphinx Network
Session of the MAREP rare disease centers
Rare disease Days 2021
Conference on the theme of inner language, disability and pain (children with rare anorectal malformations and their families).
Rare disease Days 2024
Web show « Who wants to be a millionaire? » organized by the NeuroSphinx network on the theme of rare diseases.
« Franchir » is the podcast that talks about the medical and social transition from teenager to adult in a different way.
Saliou is 20, diabetic and has just completed his transition. Accompanied by Lola, a journalist, he takes us to meet young patients with rare chronic diseases, their parents, paediatricians and adult doctors. By daring to ask all the questions, the podcast sets out the issues involved in the transition from adulthood to adulthood and outlines concrete ways in which it can be better managed.
« Franchir » is a podcast produced by the NeuroSphinx rare diseases healthcare network and the AdVenir transition platform.
In this first episode, Saliou and Lola meet Dr Paul Jacquin, adolescent doctor and medical director of Ad’venir, and Dr Célia Crétolle, paediatric visceral surgeon.
Together, they defined the boundaries of transition and asked themselves the following questions: what is the difference between a transfer and a transition? How long can a transition last? Who initiates the transition: the patient or the paediatrician? And finally, what is the transition like when you have a rare disease?
Franchir : episode 1
In this third episode, we meet up with Saliou, who has not had an easy transition. Along with Rime and Cornélia, two young women with rare and chronic diseases, Saliou and Lola reflect on the obstacles that can arise during this delicate transition. They meet endocrinologist Professor Philippe Touraine and return to paediatric surgeon Célia Crétolle to ask them about the challenges of a successful transition and the importance of the relationship with the new practitioner.
Franchir : episode 3
Imagine Institute launches its « Living with » podcast! The first episode is devoted to « Inner language in children with anorectal and pelvic malformations and the adults around them ».
How do children affected by a rare genetic disease experience it internally? To answer this question, the Imagine Institute is supporting Stéphanie Smadja’s project, which aims to study the inner language of children suffering from incontinence due to digestive and/or urinary tract dysfunction, and the people around them – what they say to themselves, mentally or aloud.
With the participation of Dr Célia Crétolle, coordinator of the MAREP reference center, Stéphanie Smadja, linguist and stylist at Université Paris Cité (UPC) and Giulia Disnan, clinical psychologist at the MAREP reference center.
The inner language of children with rare genetic diseases
Contact information
Necker-Enfants malades university hospital
> Pediatric visceral surgery department
149 rue de Sèvres
75743 PARIS Cedex 15
In Necker, the MAREP reference center in brief …
* data valid for 2022