Febbraio 2008 - Volume XXVII - numero 2

Medico e Bambino


Pagine elettroniche ; Caso Contributivo

Diagnosi neonatale di discinesia ciliare

E. Palumbo, G. Nasca, C. Malorgio, M. Branchi, G. Pellegrini

Reparto di Pediatria e Patologia Neonatale, Ospedale di Sondrio

Indirizzo per corrispondenza: emipalu2003@yahoo.it

NEONATAL DIAGNOSIS OF PRIMARY CILIARY DYSKINESIA: A CASE REPORT

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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E. Palumbo, G. Nasca, C. Malorgio, M. Branchi, G. Pellegrini Diagnosi neonatale di discinesia ciliare. Medico e Bambino 2008;27(2):123 https://www.medicoebambino.com/?id=0802_123.pdf

Pagine elettroniche ; Caso Contributivo

Panniculite lobulare in malattie di Crohn

M. Lorusso, E. Pozzi, F. Mangiantini, S. Bevilacqua, P. Lionetti

Dipartimento di Pediatria, Ospedale Meyer, Università di Firenze

Indirizzo per corrispondenza: paolo.lionetti@unifi.it

LOBULAR PANNICULITIS IN CROHN’S DISEASE

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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M. Lorusso, E. Pozzi, F. Mangiantini, S. Bevilacqua, P. Lionetti Panniculite lobulare in malattie di Crohn. Medico e Bambino 2008;27(2):123 https://www.medicoebambino.com/?id=0802_123.pdf


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