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


CONCLUSIONS
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.
Kose
Mehmet
M
Department of Pediatrics, Division of Pediatric Pulmonology Unit, Hacettepe University, Faculty of Medicine, Ankara, Turkey. mhmtkose@yahoo.com
Pekcan
Sevgi
S
Kiper
Nural
N
Aslan
Ayse Tana
AT
Cobanoglu
Nazan
N
Yalcin
Ebru
E
Dogru
Deniz
D
Ozcelik
Ugur
U
D000418:Albumins / Q000032:analysis; D016022:Case-Control Studies; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis*; D019066:Facies; D005260:Female; D006801:Humans; D007010:Hyponatremia / Q000150:complications*; D007223:Infant; D007732:Kwashiorkor / Q000209:etiology*; D008297:Male
D000418:Albumins