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Delayed presentation of familial intestinal malrotation with volvulus in two adult siblings

J Nath1, A P Corder

  • 1Wye Valley NHS Trust, UK. jaynath@yahoo.com

Annals of the Royal College of Surgeons of England
|September 5, 2012
PubMed

Insights

Familial intestinal malrotation, a rare condition, can cause severe abdominal pain and midgut volvulus. This case highlights its potential presentation in young adults and adolescents, emphasizing the need for clinical awareness.

Area of Science:

  • Gastroenterology
  • Pediatric Surgery
  • Medical Genetics

Background:

  • Intestinal malrotation is a congenital anomaly where the intestines fail to rotate properly during fetal development.
  • It typically presents in infancy with symptoms like abdominal pain, vomiting, and failure to thrive.
  • Familial occurrence of intestinal malrotation without other congenital anomalies is exceptionally rare.

Observation:

  • A 22-year-old female presented with a history of undiagnosed chronic abdominal pain.
  • Her 16-year-old brother, previously asymptomatic, developed acute midgut volvulus.
  • Both siblings were diagnosed with intestinal malrotation within an 18-month period.

Findings:

  • The siblings' presentation of intestinal malrotation and subsequent midgut volvulus, particularly in an older adolescent and young adult, is highly unusual.
  • This case suggests a potential genetic component in familial intestinal malrotation, even in the absence of other congenital defects.
  • The delayed diagnosis in the older sibling underscores the challenge of recognizing malrotation in non-infantile populations.

Implications:

  • Clinicians must consider intestinal malrotation in the differential diagnosis of unexplained abdominal pain, even in older individuals.
  • Awareness of rare familial patterns of malrotation is crucial for timely diagnosis and intervention.
  • Further research into the genetic basis of familial intestinal malrotation may be warranted to improve diagnostic strategies.

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