Familial Achalasia in Children

Overview

Journal Pediatr Surg Int

Specialties General Surgery
Pediatrics

Date 2012 Oct 19

PMID 23076455

Citations 6

Authors

Fawaz Chikh Torab

Moustafa Hamchou

Gabriel Ionescu

Ahmed H Al-Salem

Affiliations

Soon will be listed here.

Abstract

Achalasia is rare in the pediatric age group and in most cases it is idiopathic with no family history. Familial achalasia is very rare. This report describes two families with achalasia: in one, six children were affected while in the other a brother and a sister had Allgrove's syndrome (triple-A syndrome consisting of achalasia, adrenal insufficiency, and alacrima). Familial achalasia suggests that it is hereditary and may be transmitted as an autosomal recessive trait. The management of achalasia in children is still controversial. With the recent advances in minimal invasive surgery, laparoscopic Heller's myotomy is the procedure of choice in the management of achalasia in children.

Citing Articles

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Diagnosis and surgical management of children with oesophageal achalasia: A 10-year single-centre experience in Morocco.

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References

Hamza A, Awad H, Hussein O . Cardiac achalasia in children. Dilatation or surgery?. Eur J Pediatr Surg. 1999; 9(5):299-302. DOI: 10.1055/s-2008-1072268. View

Allgrove J, Clayden G, Grant D, MACAULAY J . Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 1978; 1(8077):1284-6. DOI: 10.1016/s0140-6736(78)91268-0. View

Verne G, Hahn A, Pineau B, HOFFMAN B, Wojciechowski B, Wu W . Association of HLA-DR and -DQ alleles with idiopathic achalasia. Gastroenterology. 1999; 117(1):26-31. DOI: 10.1016/s0016-5085(99)70546-9. View

Wong R, Maydonovitch C, Metz S, Baker Jr J . Significant DQw1 association in achalasia. Dig Dis Sci. 1989; 34(3):349-52. DOI: 10.1007/BF01536254. View

Kaar T, Waldron R, Ashraf M, Watson J, ONeill M, Kirwan W . Familial infantile oesophageal achalasia. Arch Dis Child. 1991; 66(11):1353-4. PMC: 1793307. DOI: 10.1136/adc.66.11.1353. View

Annese V, Napolitano G, Minervini M, Perri F, Ciavarella G, Di Giorgio G . Family occurrence of achalasia. J Clin Gastroenterol. 1995; 20(4):329-30. DOI: 10.1097/00004836-199506000-00016. View

Okawada M, Okazaki T, Yamataka A, Lane G, Miyano T . Down's syndrome and esophageal achalasia: a rare but important clinical entity. Pediatr Surg Int. 2005; 21(12):997-1000. DOI: 10.1007/s00383-005-1528-0. View

Gazarian M, Cowell C, BONNEY M, GRIGOR W . The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr. 1995; 154(1):18-23. DOI: 10.1007/BF01972967. View

Stein D, Knauer C . Achalasia in monozygotic twins. Dig Dis Sci. 1982; 27(7):636-40. DOI: 10.1007/BF01297220. View

10.

Moore P, Couch R, Perry Y, Shuckett E, Winter J . Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima. Clin Endocrinol (Oxf). 1991; 34(2):107-14. DOI: 10.1111/j.1365-2265.1991.tb00279.x. View

11.

Hurwitz M, Bahar R, Ament M, Tolia V, Molleston J, Reinstein L . Evaluation of the use of botulinum toxin in children with achalasia. J Pediatr Gastroenterol Nutr. 2000; 30(5):509-14. DOI: 10.1097/00005176-200005000-00009. View

12.

SIMILA S, Kokkonen J, Kaski M . Achalasia sicca--juvenile Sjögren's syndrome with achalasia and gastric hyposecretion. Eur J Pediatr. 1978; 129(3):175-81. DOI: 10.1007/BF00442161. View

13.

Patti M, Albanese C, Holcomb 3rd G, Molena D, Fisichella P, Perretta S . Laparoscopic Heller myotomy and Dor fundoplication for esophageal achalasia in children. J Pediatr Surg. 2001; 36(8):1248-51. DOI: 10.1053/jpsu.2001.25786. View

14.

Esposito C, Cucchiara S, Borrelli O, Desruelle P, Montupet P . Laparoscopic esophagomyotomy for the treatment of achalasia in children. A preliminary report of eight cases. Surg Endosc. 2000; 14(2):110-3. DOI: 10.1007/s004640000077. View

15.

Nihoul-Fekete C, Bawab F, Lortat-Jacob S, Arhan P . Achalasia of the esophagus in childhood. Surgical treatment in 35 cases, with special reference to familial cases and glucocorticoid deficiency association. Hepatogastroenterology. 1991; 38(6):510-3. View

16.

Verne G, Sallustio J, Eaker E . Anti-myenteric neuronal antibodies in patients with achalasia. A prospective study. Dig Dis Sci. 1997; 42(2):307-13. DOI: 10.1023/a:1018857617115. View

17.

Jeansonne L, White B, Pilger K, Shane M, Zagorski S, Davis S . Ten-year follow-up of laparoscopic Heller myotomy for achalasia shows durability. Surg Endosc. 2007; 21(9):1498-502. DOI: 10.1007/s00464-007-9500-9. View

18.

ZIMMERMAN F, Rosensweig N . Achalasia in a father and son. Am J Gastroenterol. 1984; 79(7):506-8. View

19.

Tryhus M, Davis M, Griffith J, Ablin D, Gogel H . Familial achalasia in two siblings: significance of possible hereditary role. J Pediatr Surg. 1989; 24(3):292-5. DOI: 10.1016/s0022-3468(89)80016-8. View

20.

Myers N, Jolley S, Taylor R . Achalasia of the cardia in children: a worldwide survey. J Pediatr Surg. 1994; 29(10):1375-9. DOI: 10.1016/0022-3468(94)90119-8. View