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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Pagine elettroniche ; Caso Contributivo
Dipartimento di Pediatria, Ospedale Meyer, Università di Firenze
Indirizzo per corrispondenza: paolo.lionetti@unifi.it
Key words: Lobular panniculitis, Crohn’s disease, Thalidomide
The Authors present a case of a 17 year-old patient with a 7-year history of Crohn’s disease which had been controlled with azathioprine. The patient was admitted to our Clinic because he presented painful nodules on the leg. At the time of admission abdominal pain was occasionally present. On examination he presented tender, indurate, erytematous nodules on the extensor aspects of the left leg. Skin biopsy of a representative nodule revealed lobular panniculitis. Colonoscopy showed active mucosal lesions and ileal substenosis. The patient was included in a randomized controlled double-blind multicentric study with thalidomide. The patient received thalidomide from the beginning and in six weeks the skin nodules responded well to the treatment.
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