Second family with “apple peel” syndrome affecting four siblings: Autosomal recessive inheritance confirmed
✍ Scribed by Farag, Talaat I. ;Al-Awadi, Sadika A. ;El-Badramany, Magda H. ;Usha, R. ;El-Ghanem, Mohammed
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 252 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
To the Editor:
There is evidence that some familial congenital small bowel atresia cases may be associated with autosomal recessive mode of inheritance. A proposed classification, based on clinical and morphological characteristics of 59 infants with jejunal and ileal atresia, was published by Martin et al. [19761. This includes 4 subtypes: type I, membrane (13 cases = 22%); type 11, bowel discontinuity (32 cases = 54.2%); type 111, multisystem (7 cases = 11.9%); and type IV, apple peel syndrome (7 cases = 11.9%). In 1979, Grosfeld et al. reported their experience with 62 cases with different intestinal atresias (23 duodenal, 15 jejunal, 18 ileal, and 6 colonic). They classified 33 cases with jejunoileal atresias to five distinguished morpholocial patterns: type I, septa1 atresia (2 cases = 6.1%); type 11, fibrous cord joining atretic ends (7 cases = 21.2%); type IIIA, atretic ends separated and associated with V-shaped mesenteric defect (14 cases = 42.4%); type IIIB, apple peel atresia (4 cases = 12.1%); and type IV, multiple atresias (6 cases = 13.2%).
In 1961, Santulli and Blanc first used the term "apple peel" jejunal atresia when they described 3 patients in their review of 76 neonates, with small bowel atresia. Other eponyms for the condition include "Christmas tree," "maypole," and "pagoda" bowel [Weitzman and Vanderhoof, 1966; Dickson, 1970; Nixon and Towes, 19711. This well defined variant of high jejunal atresia is characterised by helical ileum and prenatal occlusion of the superior mesenteric artery with retrograde blood supply to the surviving distal small bowel from the right colic vessels [Seashore et al., 19871. Mishalany and Najjar 119683 reported 3 affected Lebanese sibs with characteristic morphological configuration. The 4th died at home with congenital high intestinal obstruction out of 18 offspring of first cousin parents. They suggested the possibility of an autosomal recessive mode of inheritance. In 1969, Blyth and Dickson reported 8 cases of apple peel syndrome (APS) including 2 cases in 2 fami-