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Review of genetic factors in intestinal malrotation.

ABSTRACT: Intestinal malrotation is well covered in the surgical literature from the point of view of operative management, but few reviews to date have attempted to provide a comprehensive examination of the topic from the point of view of aetiology, in particular genetic aetiology. Following a brief overview of molecular embryology of midgut rotation, we present in this article instances of and case reports and case series of intestinal malrotation in which a genetic aetiology is likely. Autosomal dominant, autosomal recessive, X-linked and chromosomal forms of the disorder are represented. Most occur in syndromic form, that is to say, in association with other malformations. In many instances, recognition of a specific syndrome is possible, one of several examples discussed being the recently described association of intestinal malrotation with alveolar capillary dysplasia, due to mutations in the forkhead box transcription factor FOXF1. New advances in sequencing technology mean that the identification of the genes mutated in these disorders is more accessible than ever, and paediatric surgeons are encouraged to refer to their colleagues in clinical genetics where a genetic aetiology seems likely.

SUBMITTER: Martin V

PROVIDER: S-EPMC2908440 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature

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Review of genetic factors in intestinal malrotation.

Martin Vicki V Shaw-Smith Charles C

Pediatric surgery international 20100613 8

Intestinal malrotation is well covered in the surgical literature from the point of view of operative management, but few reviews to date have attempted to provide a comprehensive examination of the topic from the point of view of aetiology, in particular genetic aetiology. Following a brief overview of molecular embryology of midgut rotation, we present in this article instances of and case reports and case series of intestinal malrotation in which a genetic aetiology is likely. Autosomal domin ...[more]

PMID: 20549505

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Project description:Introductionand importance: Caecal volvulus represents 30% of colonic volvulus. It happens due to torsion or hyperflexion of a hypermobile caecum. Usually it is secondary to an axial rotation of the caecum and the ileum around the mesentery. On the other hand Intestinal malrotation occurs due to incomplete or faulty rotation and fixation of the gut during fetal life. The occurrence of these two anomalies together is scarse which makes this case report interesting.Case presentationA 75 year old man with medical history of terminal kidney failure, presented to the emergency room with an intestinal obstruction syndrome. On examination the patient had a distended abdomen with tenderness in the left upper quadrant. Biology found an important biological inflammatory syndrome with hyperleukocytosis and elevated CRP. Plain X-ray of the abdomen in erect posture showed an air fluid colonic level in the left hypochondrium. CT scan showed signs of caecal volvulus with intestinal malrotation. A brief reanimation and nasogastric aspiration couldn't solve the problem therefore emergency laparotomy was needed ileocaecal resection was performed associated with LADD's procedure in order to treat both anomalies and prevent further gut volvulus.Clinical discussionDespite it's rareness, caecul volvulus represents the second cause of large bowel volvulus just behind sigmoid volvulus. Intestinal malrotation in adults subjects is estimated to occur in 0.2-0.5%.The uniqueness of our case is that these two anomalies were associated in such a way that it made both the diagnosis and the therapy even more difficult. Abdominal CT has become mandatory for pre-operative diagnosis of intestinal volvulus. Surgery is the gold standard treatment for caecal volvulus. The usual options are manual detorsion, carcopexy, caecostomy and colectomy.ConclusionThis case reports a rare association of a caecum volvulus with intestinal malrotation that emphasis the place of modern technologies such as CT scan in order to achieve correct preoperative diagnosis. We also describe our approach to this uncommon surgical emergency in order to provide an efficient treatement.

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Review of genetic factors in intestinal malrotation.

Publications

Review of genetic factors in intestinal malrotation.

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