Email this article 
Achalasia of the cardia in Allgrove syndrome in an 8-year-old child
- Authors: Razumovsky A.Y.1,2, Mitupov Z.B.1,2, Alkhasov A.B.1, Chubko D.M.1
-
Affiliations:
- N.I. Pirogov Russian National Research Medical University
- N.F. Filatov City Children’s Hospital
- Issue: Vol 25, No 2 (2021)
- Pages: 121-126
- Section: CASE REPORT
- URL: https://jps-nmp.ru/jour/article/view/283
- DOI: https://doi.org/10.18821/1560-9510-2021-25-2-121-126
- ID: 283
Cite item
Open Access
Access granted
Subscription or Fee Access
Abstract
Introduction. The authors present a clinical case of an 8-year-old patient with an extremely rare Allgrove’s syndrome and cardia achalasia. By various authors, in case of this syndrome, achalasia of the cardia is diagnosed in 75% of cases, along with other symptoms. Currently, there are a number of modalities for treating achalasia of the cardia. However, the most popular one is cardiomyotomy by Heller in combination with fundoplication by Dor which recently has been successfully performed with minimally invasive laparoscopic techniques.
Clinical case. In present case, the patient had all possible minimally invasive surgical interventions. However, all attempts to apply organ-preserving techniques for treating achalasia of the cardia had failed .
Results. Finally, the child had esophageal plastic surgery – coloesophagoplasty with good clinical outcomes.
About the authors
A. Yu. Razumovsky
N.I. Pirogov Russian National Research Medical University; N.F. Filatov City Children’s Hospital
Author for correspondence.
Email: fake@neicon.ru
ORCID iD: 0000-0003-3511-0456
Moscow, 117997
Moscow, 103001
Russian FederationZ. B. Mitupov
N.I. Pirogov Russian National Research Medical University; N.F. Filatov City Children’s Hospital
Email: dr.mitupow@yandex.ru
ORCID iD: 0000-0002-0016-6444
Zorikto В. Mitupov, MD, Dr.Sc.(med)
Moscow, 117997
Moscow, 103001
Russian FederationA. B. Alkhasov
N.I. Pirogov Russian National Research Medical University
Email: fake@neicon.ru
ORCID iD: 0000-0002-0644-2198
Moscow, 117997
Russian FederationD. M. Chubko
N.I. Pirogov Russian National Research Medical University
Email: fake@neicon.ru
Moscow, 117997
Russian FederationReferences
- Allgrove J., Clayden G., Grant D. et al. Familial glucocorticoid deficiency with achalasia of the cardias and deficient tear production. Lancet. 1978 17 Jun; 1(8077): 1284-6.
- Тозлиян Е.В., Сухоруков В.С., Захарова Е.Ю., Харабадзе М.Н. Клинический полиморфизм синдрома Оллгрова (синдром «трёх А») удетей, возможности ранней диагностики и подходы к терапии. Российский вестник перинатологии и педиатрии. 2016; 1: 56-63.
- Тозлиян Е.В. Редкий генетический синдром в практике педиатра-эндокринолога. Практика педиатра. 2014; 2: 38-44.
- Mayberry J., Mayell M. Epidemiological study of achalasia in children. Gut. 1988; 29 (1): 90-3.
- Goneidy A., Cory-Wright J., Zhu L., Malakounides G. Surgical management of esophageal achalasia in pediatrics: a systematic review. Eur J of Pediatr Surg. 2020 Feb; 30(1): 13-20. doi: 10.1055/s-0039-1697958.
- Zaninotto G., Bennett C., Boeckxstaens G., Costantini M., Ferguson M. K., Pandolfino J. E. et al. The 2018 ISDE achalasia guidelines. Dis Esophagus. 2018; (31): 1-29. doi: 10.1093/dote/doy071.
- Weber A., Wienker T., Jung M. et al. Linkage of the gene for the triple A syndrome to chromocome 12q13 near the type II keratin gene cluster. Hum Mol Genet. 1996 Dec; 5 (12): 2061-6. doi: 10.1093/ hmg/5.12.2061.
- Tullio-Pelet A., Salomon R., Hadj-Rabia S. et al. Mutant WD-repeat protein in triple-A syndrome. Nat Genet. 2000 Nov; 26 (3): 332-5. doi: 10.1038/81642.
- Huebner A.,Yoon S.J.,Ozkinay F., et al. Triple A syndrome-clinical aspects and molecular genetics. Endocr Res. 2000 Nov; 26 (4): 751–9. doi: 10.3109/07435800009048596.
- Houlden H., Smith S., De Carvalho M., et al.Clinical and genetic characterization offamilies with triple A (Allgrove) syndrome. Brain. 2002 Dec; 125 (Pt 12): 2681–90. doi: 10.1093/brain/awf270.
- Разумовский А.Ю., Митупов З.Б., Алхасов А.Б., Рачков В.Е., Феоктистова Е.В., Геодакян О.С. Современные подходы в лечении детей с ахалазией кардии. Российский вестник детской хирургии, анестезиологии и реаниматологии. 2011; 1: 71-6.
- Черноусов А.Ф., Царенко И.А. Лечение дисфагии кардиодилатацией после предшествующей операции на кардии по поводу кардиоспазма. Анналы хирургии. 1998; 2: 37-41.
- Saliakellis E., Thapar N. et al. Long-term outcomes of Heller’s myotomy and balloon dilatation in childhood achalasia. Eur J Pediatr. 2017 Jul; 176 (7): 899-907. doi: 10.1007/s00431-017-2924-x.
- Lee Y., Brar K., Doumouras A. G., Hong D. Peroral endoscopic myotomy (POEM) for treatment of pediatric achalasia: a systematic review and meta-analysis. Surg Endosc. 2019 Jun; 33 (6): 1710-20. doi: 10.1007/ s00464-019-06701-5.
- Smith C.D., Stival A., Howell D.L. Endoscopic therapy for achalasia before Heller myotomy results in worse outcome than Heller myotomy alone. Ann. Surg. 2006 May; 243 (5): 579-84. doi: 10.1097/01. sla.0000217524.75529.2d.
- Хатьков И.Е., Израилов Р.Е., Домрачев С.А., Кононец П.В., Васнев О.С., Кошкин М.А. Тораколапароскопические одномоментные операции на пищеводе: результаты лечения 14 больных. Хирургия. Журнал им. Н.И. Пирогова. 2014 (10):45-51.
- Soccorso G., Parikh D.H. Esophageal replacement in children: challenges and long-term outcomes. J Indian Assoc Pediatr Surg. Jul-Sep 2016; 21 (3): 98-10.
- Аллахвердян А.С., Мазурин B.C. Неполная косая заднебоковая фундопликация при эзофагокардиомиотомии по поводу ахалазии кардии. Грудная и сердечно-сосудистая хирургия. 2007; 6: 32-6.
Supplementary files
