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Intestinal malrotation in a patient with Pfeiffer syndrome type 2

Yuri A Zarate1, Philip E Putnam, Howard M Saal

  • 1Greenwood Genetic Center, Columbia, South Carolina, USA.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|June 1, 2010
PubMed

Insights

Pfeiffer syndrome, a genetic disorder, can rarely cause intestinal malrotation. Early recognition of this complication is crucial for managing feeding issues in affected children.

Area of Science:

  • Genetics
  • Pediatrics
  • Gastroenterology

Background:

  • Pfeiffer syndrome is a rare genetic disorder affecting bone development, characterized by craniosynostosis and limb abnormalities.
  • Gastrointestinal complications are not widely recognized as a feature of Pfeiffer syndrome.

Observation:

  • A 16-month-old boy with Pfeiffer syndrome type 2 experienced delayed diagnosis of intestinal malrotation.
  • The patient presented with feeding intolerance and persistent vomiting, indicative of a gastrointestinal issue.

Findings:

  • Intestinal malrotation is a rare but significant complication in severe Pfeiffer syndrome.
  • This case highlights a previously underreported association between Pfeiffer syndrome and gastrointestinal malrotation.

Implications:

  • Recognizing gastrointestinal malrotation is vital for timely diagnosis and management in Pfeiffer syndrome patients.
  • This underscores the need for comprehensive evaluation of gastrointestinal symptoms in children with Pfeiffer syndrome.

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