Neonatal Diagnosis of the Immotile Cilia Syndrome

Ramet, J. P.; Byloos, Jeannine; Delree, M; Sacré, Liliane; Clement, Péter

doi:10.1378/chest.90.1.138

Cited by 21 publications

(11 citation statements)

References 9 publications

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“…Further investigations showed absence of ciliary movements and ultrastructural anomalies of the cilia. We did not find any other reasons for respiratory distress and, in agreement with Ramet et al [22], we suppose that the primary ciliary defect was re, sponsible for the respiratory problems.…”

Section: Discussionsupporting

confidence: 92%

“…The patient was intubated and copious mucus was as-KS, an entity of the primary ciliary dyskinesia, has been recognized in seven neonates [9,11,17,20,22,26], but to our knowledge only one author has described the ultrastructural and functional defects of the cilia in this age group [22]. The same author showed that healthy newborus have a normal ultrastructure of the cilia [22]. On the other hand, anomalies of the ciliary structure in neonates without evidence for primary ciliary dyskinesia have also been described [7,16].…”

Section: Case Reportmentioning

confidence: 99%

“…During the first hours of life, these babies are healthy, but within 24-48 h they develop respiratory distress. A n abnormal mucoid nasal discharge appears to be typical [9,22,26]. Characteristically all investigations to elucidate the origin of the respiratory distress are negative.…”

Section: Case Reportmentioning

confidence: 99%

“…ICS has rarely been recognised in the neonatal period [9,11,17,20,22,26]. In spite of the fact that respiratory symptoms are relatively frequent in the perinatal period [4], the diagnosis is commonly made in childhood, adolescence or adulthood [4,6,8,13,17,19].…”

Section: Introductionmentioning

confidence: 99%

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Kartagener syndrome: An uncommon cause of neonatal respiratory distress?

et al. 1995

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We report a newborn with respiratory distress and situs inversus totalis. The diagnosis of primary ciliary dyskinesia was confirmed by both ultrastructural and functional investigations. The immotile cilia syndrome was suspected because of respiratory distress, situs inversus, abnormal nasal discharge and hyperinflated chest X-ray. We suggest that ultrastructural and functional investigations of the respiratory mucosa should be done in any newborn with respiratory distress without explanation for the respiratory problems. Establishment of the correct diagnosis at an early stage may allow to improve the prognosis provided prophylactic physiotherapy, vaccinations, and aggressive antibiotic treatment of intercurrent respiratory infections are instituted. CONCLUSION Despite its rarity, primary ciliary dyskinesia should be considered in unexplained cases of neonatal distress.

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Section: Discussionsupporting

confidence: 92%

Section: Case Reportmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Kartagener syndrome: An uncommon cause of neonatal respiratory distress?

et al. 1995

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“…The clinical presentation and pulmonary function abnormalities of PCD have been well described in crosssectional studies [7,13,14,17,26] and the syndrome has been extensively reviewed elsewhere [18,22]. Yet little is known about the longitudinal evolution of pulmonary function.…”

Section: Introductionmentioning

confidence: 99%

Primary ciliary dyskinesia: Evolution of pulmonary function

Hellinckx

Demedts²,

Boeck

1998

Eur J Pediatr

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Utilization of digital image processing to study dynein arms (ATPase) in normal and immotile cilia

Kennedy

Dunlap

Bunn

et al. 1988

J. Elec. Microsc. Tech.

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Tracheal ciliary cross sections were examined with scanning transmission electron microscopy and the resultant images were digitized for image enhancement. A gray-scale histogram of each ciliary image was produced and manipulated to enhance the image for dynein arms. Tracheal epithelial tissue from the pig, rabbit, and dog, including dogs with immotile cilia syndrome, was examined by using this technique. Tissue from each animal was fixed with each of three different fixatives and sections were evaluated for preservation of dynein arms. The same fixative did not consistently provide optimal fixation for ciliary dynein arms in all three species examined. Each species, therefore, must be evaluated to determine the optimal fixative for preservation of normal ciliary ultrastructure. Digital image processing provides a mechanism for enhancing dynein arms in situ without the need for addition of special stains or the use of techniques such as image summation. With this technique it has been shown that about two-thirds of outer dynein arms are partially or completely missing on cilia from dogs with immotile cilia syndrome.

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Neonatal Diagnosis of the Immotile Cilia Syndrome

Cited by 21 publications

References 9 publications

Kartagener syndrome: An uncommon cause of neonatal respiratory distress?

Kartagener syndrome: An uncommon cause of neonatal respiratory distress?

Primary ciliary dyskinesia: Evolution of pulmonary function

Utilization of digital image processing to study dynein arms (ATPase) in normal and immotile cilia

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