Multiple gastrointestinal atresias with imperforate anus: Pathology and pathogenesis

Abstract

The syndrome of hereditary multiple gastrointestinal atresias is characterized by multiple and widespread atresias from pylorus to rectum, intraluminal calcifications on plain abdominal roentgenogram, and an invariably fatal course with an autosomal recessive mode of inheritance. We review 18 cases reported in the literature and one additional case in an infant with imperforate anus. The anatomical and histological characteristics of the atresias suggest a failure of recanalization of the embryonic intestinal lumen. The association between multiple atresias and imperforate anus supports the hypothesis that this disorder is a malformation syndrome caused by a defect in the development of the gastrointestinal tract.

Molecular etiology of gut malformations and diseases

“…AA phenotypes (imperforate anus, anal stenosis, anal agenesis) are sporadic or syndromic anomalies [Quan and Smith, 1973;Andrassy and Mahour, 1979;Shen-Schwarz and Fitko, 1990;Martinez-Frias et al, 2000]. AAs are thought to be due to posterior GI maldevelopment, although some researchers have postulated that ischemic events in utero may be responsible [Shen-Schwarz and Fitko, 1990].…”

“…AAs are thought to be due to posterior GI maldevelopment, although some researchers have postulated that ischemic events in utero may be responsible [Shen-Schwarz and Fitko, 1990]. The development of the anus stems from the original CIP at the very start of gut development.…”

Hereditary multiple intestinal atresia: thirty years later

“…The mean survival time was 50 days. On the pathology report, the sievelike luminae appearance, previously described in the literature 3,7,[9][10][11]13,15,17,[19][20][21][22][24][25][26]29,30 was present in 10 of 15 patients (Fig 1). The other frequent abnormal findings were mucous membrane ulceration and granulation tissue, each found in 3 cases.…”

“…We were able to identify 43 other cases in the literature with this report being the largest series. 1,4,[7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] The pathogenesis of this disease remains speculative. Many hypotheses have been proposed.…”

“…Many hypotheses have been proposed. 3,[8][9][10][11][26][27][28][29][30] Vascular injury occurring after the embryonic stage can explain jejunoileal and colonic atresia but is less plausible for HMIA because of the extent of the disease. Moreover, a vascular insult is more likely to cause atresia with mesenteric defects, which are absent in HMIA.…”