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

UNLABELLED: Cystic fibrosis (CF) is the most prevalant inheritable chronic disease in caucasian children. The clinical syndrome of kwashiorkor is well-recognized complication of CF. 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 CF enrolled in our center. Five infants 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 the 6 months of age were 9.4% in our center. 48 infants diagnosed as CF without doll-like face before the age of 6 months participitated in the study as controls (group2). 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 CF. 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.