TY - JOUR
T1 - Early diagnosis of primary ciliary dyskinesia in a newborn without situs inversus
AU - Bromiker, R.
AU - Neeman, Z.
AU - Bar-Oz, B.
AU - Avital, A.
AU - Bar-Ziv, J.
AU - Springer, C.
PY - 2002/9
Y1 - 2002/9
N2 - Primary ciliary dyskinesia has been reported as a rare cause of respiratory distress during the neonatal period. This diagnosis is readily suspected in cases presenting with accompanying situs inversus. The aim of this study was to report on a pair of siblings with primary ciliary dyskinesia. The first case was an infant diagnosed with primary ciliary dyskinesia at the age of 14 d despite lack of situs inversus. The infant had presented with respiratory distress and atelectasis almost immediately after birth. The sibling, born one year later, presented with situs inversus, therefore allowing diagnosis of primary ciliary dyskinesia to be made immediately after birth. Conclusions: Diagnosis of primary ciliary dyskinesia should be considered in newborns presenting with respiratory distress of atelectasis. Early institution of an adequate treatment programme and follow-up may reduce of prevent further complications of the disease.
AB - Primary ciliary dyskinesia has been reported as a rare cause of respiratory distress during the neonatal period. This diagnosis is readily suspected in cases presenting with accompanying situs inversus. The aim of this study was to report on a pair of siblings with primary ciliary dyskinesia. The first case was an infant diagnosed with primary ciliary dyskinesia at the age of 14 d despite lack of situs inversus. The infant had presented with respiratory distress and atelectasis almost immediately after birth. The sibling, born one year later, presented with situs inversus, therefore allowing diagnosis of primary ciliary dyskinesia to be made immediately after birth. Conclusions: Diagnosis of primary ciliary dyskinesia should be considered in newborns presenting with respiratory distress of atelectasis. Early institution of an adequate treatment programme and follow-up may reduce of prevent further complications of the disease.
KW - Immotile cilia syndrome
KW - Kartagener's syndrome
KW - Primary ciliary dyskinesia
KW - Respiratory distress syndrome
UR - http://www.scopus.com/inward/record.url?scp=0036394749&partnerID=8YFLogxK
U2 - 10.1080/080352502760272731
DO - 10.1080/080352502760272731
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C2 - 12412880
AN - SCOPUS:0036394749
SN - 0803-5253
VL - 91
SP - 1002
EP - 1005
JO - Acta Paediatrica, International Journal of Paediatrics
JF - Acta Paediatrica, International Journal of Paediatrics
IS - 9
ER -