[Primary ciliary dyskinesia causing neonatal respiratory distress].
BACKGROUND
Primary ciliary dyskinesia (PCD) is a hereditary disorder of structure and function of the cilia of respiratory epithelium of the upper and lower airways. Prevalence is estimated with 1:15 000 to 1:30 000 births. We present a newborn infant with respiratory distress caused by PCD.


METHODS
On the first day of life, the male newborn developed dyspnoe and cyanosis, so that CPAP and short term ventilation was necessary. Varying atelectasis impressed on the chest radiographs and the diagnosis of PCD was made by nasal brush biopsies. Causative is a lack of the inner dynein arms of the cilia. The clinical features of newborns with the diagnoses of PCD are listed and compared with the own case.


CONCLUSIONS
PCD is a rare cause of neonatal respiratory distress and should be considered in term infants with unknown and prolonged course even if Situs inversus is lacking.
Hünseler
C
C
Bereich Neonatologie, Kinderklinik der Universität zu Köln. christoph.huenseler@uni-koeln.de
Lange
L
L
Kribs
A
A
Vierzig
A
A
Roth
B
B
D000280:Administration, Inhalation; D000420:Albuterol / Q000008:administration & dosage; D056444:Axonemal Dyneins / Q000172:deficiency / Q000235:genetics; D001706:Biopsy; D001999:Bronchoscopy; D003131:Combined Modality Therapy; D045422:Continuous Positive Airway Pressure; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008297:Male; D010102:Oxygen Inhalation Therapy; D026741:Physical Therapy Modalities; D011175:Positive-Pressure Respiration; D001261:Pulmonary Atelectasis / Q000209:etiology; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy
D056444:Axonemal Dyneins; D000420:Albuterol