Febbraio 2010 - Volume XXIX - numero 2
Pagine elettroniche ; Caso Contributivo
Dipartimento di Pediatria, Ospedale Meyer, Università di Firenze
Indirizzo per corrispondenza: paolo.lionetti@unifi.it
Key words: Recurrent abdominal pain, Peutz-Jeghers syndrome, Small-bowel intussusceptions, Intestinal polyposis
Peutz-Jeghers syndrome (PJS) is a rare, though well-described, hereditary disorder characterized by mucocutaneous pigmentation and hamartomatous polyps that typically present in the second decade of life. The Authors describe a case of a 13 year-old girl who presented with a 4- month story of abdominal pain, located in the periumbilical region, initially without associated symptoms and then followed by nausea and vomiting. Utrasound scan and exploratory laparotomy revealed small-bowel intussusceptions due to the presence of two jejunal polyps: resections and anastomosis of the involved segment were performed. Histopathology revealed the presence of hamartomas and hyperpigmentation on her lips was discovered: the young patient was diagnosed with Peutz-Jeghers syndrome. The diagnosis was confirmed by the presence of a mutation of STK11 (LKB1) gene.
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Pagine elettroniche ; Il punto su
1Scuola di Specializzazione, Chirurgia Pediatrica, IRCCS “G. Gaslini”, Università di Genova
2Dipartimento di Chirurgia Pediatrica, IRCCS “Burlo Garofolo”, Trieste
Indirizzo per corrispondenza: francescagobbo@hotmail.com
Key words: Congenital pulmonary airway malformations (CPAM), Prenatal diagnosis, Lung surgery, Infants
Congenital pulmonary airway malformations (CPAM) include a wide spectrum of developmental anomalies. Almost 50% of the cases are diagnosed in utero. These appear as hyperechoic, cystic or mixed lesions. Prenatal clinical course varies from serious complications in utero to polyhydramnios with premature labor. Hydrops and fetal demise is reported in as many as 25-30% of cases. Postnatal presentation ranges from severe respiratory distress to symptoms related to pulmonary hypoplasia, left to right shunting in sequestration or overinflation and pneumothorax. When no prenatal diagnosis is made, children may remain asymptomatic or may present, later in their lives, with complications of recurrent pneumonias or spontaneous pneumothorax. Surgical resection represents the standard for symptomatic cases at birth and later in children with respiratory symptoms. Even though the management for asymptomatic cases remains controversial, early surgical excision to avoid recurrent infections, pneumothorax and malignancy is recommended. New instrumentation and advanced skills make thoracoscopic lobar lung resection the preferred approach.
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