Neorratal Diagnosis of the lmmotile Cilia Syndrome

2017 
auscultation was reported as particularly clear in the right hemithorax. The chest x-ray film revealed dextrocerdia, while the pulmonary fields were clear. Repetitive chest x-ray films remained unchanged; no radiologic signs of neod pulmonary diseases appeared. Bacteriologic investigations, including cultures of blood. urine, nasal secretion, and throat swabs, were negative. The results ofthe sweat test were nod. The ledthin/sphingomyelin ratio on gastric aspirate was nod.'The IgE level was 1.0 Idlounitsn. The level of a,-antitrypin was 223 m@OO ml (normal range). The localization of liver, spleen, and colon studied by ultrasound and opad6cation cohed that the child had situs inversus tdalis. Bronchoscopy cohed the reversal of visceral status and the presence of very thick secretions. On the third day the infant still had persistent symptoms while being treated with antibiotics and physiotherapy. A nasal biopsy using a microcwette was perbrmed. During hospitakation the mother was taught how to aspirate mucus and to do postural drainage. The child, now 37 months old, was followed in the outwent clinic. He was not placed in a nursery, and contact with sick persons wes avoided. During the 37 months of observation, the child had no pulmonary or ear, nose, and thnt infectbns. Physiotherapy was performed two times daily, with obvious benefit. At 36 months a control biopsy was performed. Samples ofnasal epithelium were also obtained from two newborns with hyaline membrane disease, two with meconium aspiration, and h& with bacteriologically proven pulmonary infection. Following parental consent a biopsy was performed in a normal newborn baby who was born to a healthy woman following an uneventful pregnancy. Methods and Reaults Nasal biopsies were obtained from the newborns by brushing the lower surblce of the nasal turbinate. The technique was simple and minimally invasive. Biopsies were fixed in glutaraldehycle and posthed in osmium tetroxide in a cacodylate b&r. Thin sections were cut and studied by elecbon microscopy (DepPrtment of Anatomopathology, Professor W. Gepts). The first nasal biopsy in the
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