Febbraio 2008 - Volume XXVII - numero 2
Pagine elettroniche ; Caso Contributivo
Reparto di Pediatria e Patologia Neonatale, Ospedale di Sondrio
Indirizzo per corrispondenza: emipalu2003@yahoo.it
Key words: Primary ciliary dyskinesia, Neonatal diagnosis, Case report
Primary ciliary dyskinesia is a rare, autosomal recessive genetic disease resulting from an abnormal ultra structural morphology of cilia. Such disease is rarely recognized in neonatal period. Recently, unexplained neonatal respiratory distress has been found to be a common clinical presentation of patients with primary ciliary dyskinesia, indicating that this is an important complex symptom in early life for this condition. The diagnosis requires a high index of suspicion, but this disease must be considered in any term neonate who develops unexplained respiratory distress, particularly when situs viscerum inversus is present. We report the case of a newborn affected by situs viscerus inversus who showed unexplained respiratory distress after 48 hours of life. Diagnosis was confirmed by the ultra structural study of cilia.
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