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Pediatric and Developmental Pathology

, Volume 6, Issue 1, pp 88–93 | Cite as

Cystic Fibrosis and Chiari Type I Malformation: Autopsy Study of Two Infants with a Rare Association

  • Dinesh Rakheja
  • Yin Xu
  • Dennis K. Burns
  • Daniel L. Veltkamp
  • Linda R. Margraf

Cystic fibrosis (CF), an epithelial cell transport disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is not generally associated with malformations of the central nervous system (CNS). This report describes two African-American children who died at less than 2 years of age with known Chiari I malformations and were found, unexpectedly at autopsy, to have the classic pancreatic and respiratory changes of CF. Both patients had suffered from failure to thrive that had been attributed to their CNS malformations. One child also had recurrent pneumonia and died with Pseudomonas sepsis. Mutational analysis for > 70 common CFTR mutations identified a single delta F508 mutation in one patient and a single 3120+1G to A mutation in the other. Their second CFTR mutations were not identified. The association of CF with Chiari I malformation is not likely to be purely coincidental, as the probability of such an occurrence in African-Americans is greater than one in 7,500,000 patients. It is possible that the CFTR gene may play a previously unrecognized role in CNS development. Alternatively, this CNS abnormality may be acquired due to the metabolic and electrolyte imbalances that characteristically occur in CF.

Keywords

Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Electrolyte Imbalance Central Nervous System Development Respiratory Change 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Society for Pediatric Pathology 2003

Authors and Affiliations

  • Dinesh Rakheja
    • 1
  • Yin Xu
    • 1
  • Dennis K. Burns
    • 1
  • Daniel L. Veltkamp
    • 2
  • Linda R. Margraf
    • 1
  1. 1.Department of Pathology, University of Texas Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, TX 75390-9073, USAUS
  2. 2.Department of Radiology, University of Texas Southwestern Medical School and Children's Medical Center of Dallas, 1935 Motor Street, Dallas, TX 75235, USAUS

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