Short Small Intestine Associated with Malrotation: A Newly Described Congenital Cause of Intestinal Malabsorption

Hamilton, J. R.; Reilly, Bernard J.; Morecki, Rachel

doi:10.1016/s0016-5085(69)80074-0

Cited by 49 publications

(41 citation statements)

References 19 publications

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“…Loss of the small bowel most likely occurred prior to birth because it is extremely unlikely that such a devastating injury Several reports of congenital short bowel exist, a situation that was first described by Hamilton et al in 1969 [1]. Babies with this condition often present with functional intestinal obstruction [2,3].However, this uncommon finding is typically associated with a congenitally short jejunoileum [1], intestinal malrotation [1,2], malabsorption, and no other intestinal anomalies [4]. It is an almost universally fatal condition [5,6].…”

Section: Discussionmentioning

confidence: 99%

Total absence of the small bowel in a premature neonate

et al. 2005

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We report here an interesting unique case of total loss of small bowel in the absence of associated malrotation or gastroschisis. Total loss of small bowel, acquired in utero in the absence of associated anomalies such as malrotation or gastroschisis, has not been previously reported. Several reports of congenital short bowel exist. However, this uncommon finding is typically associated with malrotation. Babies with this condition often present with functional intestinal obstruction. Several cases in which infarction of gastroschisis and autolysis of the bowel, followed by in utero resolution of the abdominal wall defect, have been reported as a cause of congenital absence of the small bowel. We present here the first report, to our knowledge, of an infant with total absence of the small bowel without gastroschisis or malrotation.

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Section: Discussionmentioning

confidence: 99%

Total absence of the small bowel in a premature neonate

et al. 2005

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“…Hamilton et al reported a French-Canadian couple who were not related and who had five daughters, two of them diagnosed with CSBS. One of the affected girls died at the age of 1 month and 1 week, and prior to death a laparotomy showed a small intestine of 30 cm in length [1]. More case reports followed and a familial occurrence was described in approximately 60% of the cases published in the literature.…”

Section: Geneticsmentioning

confidence: 99%

“…Malrotation of the bowel is always present, and although this can point to an independent developmental defect, it can also be just a consequence of the shortened small intestine. The cecum is often positioned in the left upper quadrant of the abdomen close to the splenic flexure [1,[6][7][8][9][10], but it can also be located in the lower left quadrant of the abdomen when nonrotation of the bowel is observed [11]. In three reported patients the appendix was absent [4,7,12], and volvulus was found in four patients [13,14].…”

Section: Clinical Presentationmentioning

confidence: 99%

“…In another CSBS patient heterotopic gastric mucosa was found [23]. Conversely, in other cases, no abnormalities of the nerves plexus were seen on routine acetylcholinesterase staining [1,6,12,18,[24][25][26]. Nezelof et al described three cases with several congenital malformations, which included a shortened small intestine and heterotopia.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…In some cases, total parenteral nutrition has to be continued for the first two years of life [6,9], and oral feeding is introduced gradually. With time, the function of the remnant small intestine in CSBS patients improves, both in length and absorption capacity, leading to better absorption of fat and vitamin B12 [1,6,14]. The weight and height of CSBS patients are frequently below the 50th percentile [1,6,18,20,29], but no nutritional deficiencies are observed [6,9,30].…”

Section: Treatment Management and Outcomementioning

confidence: 99%

See 2 more Smart Citations

Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation

Werf

Halim

Verheij

et al. 2015

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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Congenital Short Bowel Syndrome (CSBS) is a rare gastrointestinal disorder in which the mean length of the small intestine is substantially reduced when compared to its normal counterpart. Families with several affected members have been described and CSBS has been suggested to have a genetic basis. Recently, our group found mutations in CLMP as the cause of the recessive form of CSBS, and mutations in FLNA as the cause of the X-linked form of the disease. These findings have improved the quality of genetic counselling for CSBS patients and made prenatal diagnostics possible. Moreover, they provided a reliable starting point to further investigate the pathogenesis of CSBS, and to better understand the development of the small intestine. In this review, we present our current knowledge on CSBS and discuss hypotheses on how the recent genetic findings can help understand the cause of CSBS.

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