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multiple intestinal atresias syndrome

MIM.243150 ORPHA2300 ICD-10:Q43.8

Sunday 5 August 2007

Digital slide

- Case 42 : Multiple intestinal atresia syndrome

Definition: Intestinal atresias are a common cause of newborn bowel obstruction.

Hereditary multiple intestinal atresias, first reported by Guttman et al in 1973, is the rarest form of multiple atresias.

It has been proposed to be autosomal recessive, to involve atresias in a variable combination of sites from stomach to rectum, and to be universally fatal.

Patients have significant intestinal dysfunction and unrelenting sepsis stemming from a poorly defined, severe immunologic defect.

Synopsis

- pyloric atresia
- multiple small bowel and colonic atresias
- severe immune dysfunction
- multiple bouts of sepsis

The immune defect may not be primary, but in fact be secondary to intestinal dysfunction.

Associations

- imperforate anus (2202215)
- intraluminal calcifications(1250662)
- cystic dilatation of bile ducts (1250662)
- biliary abnormalities (1891262)
- severe combined immunodeficiency syndrome (2240032)

Etiology: Unknown

References

- Hereditary multiple intestinal atresias: 2 new cases and review of the literature. Conrad C, Freitas A, Clifton MS, Durham MM. J Pediatr Surg. 2010 Apr;45(4):E21-4. PMID: 20385266

- Multiple atresia of the small intestine: a 20-year review. Baglaj M, Carachi R, Lawther S. Eur J Pediatr Surg. 2008 Feb;18(1):13-8. PMID: 18302063

- Distal foregut atresias in consecutive siblings and twins in the same family. Gahukamble DB, Adnan AR, Al Gadi M. Pediatr Surg Int. 2003 Jun;19(4):288-92. PMID: 12739034

- In utero sonographic findings in a fetus with a hereditary multiple intestinal atresia. Chou MM, Tseng JJ, Ho ES, Peng HC. Zhonghua Yi Xue Za Zhi (Taipei). 2002 Mar;65(3):131-4. PMID: 12051458

- Immune deficiency in familial duodenal atresia. Moore SW, de Jongh G, Bouic P, Brown RA, Kirsten G. J Pediatr Surg. 1996 Dec;31(12):1733-5. PMID: 8987005

- Gungor, N.; Balci, S.; Tanyel, F. C.; Gogus, S. : Familial intestinal polyatresia syndrome. Clin. Genet. 47: 245-247, 1995. PubMed ID : 7554349

- A syndrome involving immunodeficiency and multiple intestinal atresias. Rothenberg ME, White FV, Chilmonczyk B, Chatila T. Immunodeficiency. 1995;5(3):171-8. PMID: 7749436

- Moreno, L. A.; Gottrand, F.; Turck, D.; Manouvrier-Hanu, S.; Mazingue, F.; Morisot, C.; Le Deist, F.; Ricour, C.; Nihoul-Fekete, C.; Debeugny, P.; Griscelli, C.; Farriaux, J.-P. : Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. Am. J. Med. Genet. 37: 143-146, 1990. PubMed ID : 2240032

- McHugh, K.; Daneman, A. : Multiple gastrointestinal atresias: sonography of associated biliary abnormalities. Pediat. Radiol. 21: 355-357, 1991. PubMed ID : 1891262

- Shen-Schwarz, S.; Fitko, R. : Multiple gastrointestinal atresias with imperforate anus: pathology and pathogenesis. Am. J. Med. Genet. 36: 451-455, 1990. PubMed ID : 2202215

- Familial multiple jejunal atresia with malrotation. Gibson MF. J Pediatr Surg. 1987 Nov;22(11):1013-4. PMID: 3430299

- Skoll, M. A.; Marquette, G. P.; Hamilton, E. F. : Prenatal ultrasonic diagnosis of multiple bowel atresias. Am. J. Obstet. Gynec. 156: 472-473, 1987. PubMed ID : 3548375

- Puri, P.; Guiney, E. J.; Carroll, R. : Multiple gastrointestinal atresias in three consecutive siblings: observations on pathogenesis. J. Pediat. Surg. 20: 22-24, 1985. PubMed ID : 3973807

- Kao, K. J.; Fleischer, R.; Bradford, W. D.; Woodard, B. H. : Multiple congenital septal atresias of the intestine: histomorphologic and pathogenetic implications. Pediat. Path. 1: 443-448, 1983.

- Arnal-Monreal, F.; Pombo, F.; Capdevila-Puerta, A. : Multiple hereditary gastrointestinal atresias: study of a family. Acta Paediat. Scand. 72: 773-777, 1983. PubMed ID : 6637476

- Morin, P. R.; Potier, M.; Dallaire, L.; Melancon, S. B.; Milunsky, A. : Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses. Clin. Genet. 18: 217-222, 1980. PubMed ID : 7438502

- Daneman, A.; Martin, D. J. : A syndrome of multiple gastrointestinal atresias with intraluminal calcification: a report of a case and a review of the literature. Pediat. Radiol. 8: 227-231, 1979. PubMed ID : 514679

- Martin, C. E.; Leonidas, J. C.; Amoury, R. A. : Multiple gastrointestinal atresias, with intraluminal calcifications and cystic dilatation of bile ducts: a newly recognized entity resembling ’a string of pearls.’. Pediatrics 57: 268-271, 1976. PubMed ID : 1250662

- Dallaire, L.; Perreault, G. : Hereditary multiple intestinal atresia. Birth Defects Orig. Art. Ser. X(4): 259-264, 1974.

- Guttman, F. M.; Braun, P.; Garance, P. H.; Blanchard, H.; Collin, P. P.; Dallaire, L.; Desjardins, J. G.; Perreault, G. : Multiple atresias and a new syndrome of hereditary multiple atresias involving the gastrointestinal tract from stomach to rectum. J. Pediat. Surg. 8: 633-640, 1973. PubMed ID : 4752999

- Mishalany, H. G.; Der Kaloustian, V. M. : Familial multiple-level intestinal atresia: report of two siblings. J. Pediat. 79: 124 only, 1971. PubMed ID : 5091250

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