Doll-like face: Is it an underestimated clinical presentation of cystic fibrosis?


KÖSE M. , pekcan s., kiper n., Aslan A. T. , çobanoğlu n., yalçın e., ...More

PEDIATRIC PULMONOLOGY, vol.43, no.7, pp.634-637, 2008 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 7
  • Publication Date: 2008
  • Doi Number: 10.1002/ppul.20819
  • Title of Journal : PEDIATRIC PULMONOLOGY
  • Page Numbers: pp.634-637
  • Keywords: cystic fibrosis, doll-like face, SYMPTOM COMPLEX, KWASHIORKOR, INFANTS, EDEMA, HYPOPROTEINEMIA, PATHOGENESIS, MALNUTRITION, ANEMIA

Abstract

Cystic fibrosis (CF) is the most prevalent inheritable chronic disease in Caucasian children. The clinical syndrome of kwashiorkor is a well-recognized complication of CIF The edema of the face can be seen in kwashiorkor. As doll-like face is very rare and underestimated clinical presentation of CF patients complicated with hypoproteinemia we evaluated demographic features and laboratory characteristics of 5 patients diagnosed as CF with doll-like face. Methods: Between June 2005 and January 2008, 115 children were diagnosed as having CIF enrolled in our center Five infants that were diagnosed as CF with doll-like face before the age of 6 months participitated in study. Results: The incidence of doll-like face younger than 6 months of age were 9.4% in our center Forty-eight infants diagnosed as CIF without doll-like face before the age of 6 months participitated in the study as controls (group 2). Physical examination revealed doll-like face and pitting edema of lower extremities in group 1. Their weight and length were under the third centile. Laboratory findings of group 1 include: mean hemoglobin 7.6g/dl; mean total protein 4.4 g/dl; albumin 2.3 g/dl. When compared control group in order to; 11.4 g/dl (range 7.6-17.9); 6.2 g/dl (range 4.0-8.8); 4.7 g/dl (range 2.1-5.8), mean hemoglobin, total protein and albumin values were lower in group 1. Conclusion: In a subgroup of patients, doll-like face may be the presenting manifestation of CIF Especially in developing countries clinicians should be aware of in patients with malnutrition and doll-like face and CF should be considered in differential diagnosis.