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Browsing by Author "Oliveira, PH"

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  • Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach
    Publication . Oliveira, PH; Cunha, C; Almeida, S; Ferreira, R; Maia, S; Saraiva, JM; Lopes, MF
    Juvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6years of age. A 3.34Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition, refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. A sub-total colectomy, combined with intraoperative endoscopic removal of ileal and rectal stump polyps, was required for palliative disease control.
    2013Journal article Open access Show more
  • Outcomes of choledochal cysts with or without intrahepatic involvement in children after extrahepatic cyst excision and Roux-en-Y hepaticojejunostomy
    Publication . Congo, K; Lopes, MF; Oliveira, PH; Matos, H; Basso, S; Reis, A
    Background. Type I and type IV-A choledochal cysts (CC) in Todani's classification are the most frequent types of CC. Unlike type I cyst, in which the dilatation is confined to the extrahepatic bile duct, type IV-A affects both extra and intrahepatic ducts. Aim. To review our experience of complete cyst excision with Roux-en-Y hepaticojejunostomy for the treatment of type I and type IV-A CC in childhood, in order to better characterize these entities. Material and methods. Data was collected retrospectively from a cohort of children who underwent cyst resection for CC from 1989 to 2011 in our institution. Results. Twelve patients were submitted to surgical excision of extrahepatic cyst and hepaticojejunostomy for treatment of type I (n = 6) and type IV-A (n = 6) cysts, with a complication rate of 25% (n = 3) and no mortality. Long term follow-up was available in 92% of patients, with a median of 10 years (2-22 years). Morbidities consisted of bile leak (2 patients) and late-onset cholestasis (1 patient); two of these required anastomotic revision. The results did not reveal any significant differences between the groups regarding postoperative outcomes (P > 0.05). Preoperative intrahepatic dilatation was found to permanently vanish in 83% of patients diagnosed with type IV-A cyst after operative repair. Conclusions. Intrahepatic dilatation of type IV-A cyst in children did not adversely affect the postoperative outcome after conventional surgical repair. This operative approach was effective in the management of type I and type IV-A cysts.
    2012Journal article Open access Show more