Search results for "Peutz–Jeghers syndrome"

Gastric outlet obstruction in a neonate because of Peutz-Jeghers syndrome

2012

Neonatal detection of Peutz-Jeghers syndrome is unusual with only 2 cases previously reported in the literature. We describe a neonate presenting with gastric outlet obstruction owing to 2 large Peutz-Jeghers polyps. The child's father and grandmother were known to have Peutz-Jeghers syndrome. On the ninth day of life, the infant underwent colonoscopy, abdominal exploration, and complete surgical resection of 3 polyps. The postoperative course was uneventful, and the patient was discharged home at the age of 3 weeks on full oral feeds. This is the first case report of inherited Peutz-Jeghers syndrome causing gastric outlet obstruction in a neonate.

Ultralow Anterior Resection for Prolapsed Giant Solitary Rectal Polyp of Peutz-Jeghers Type

2011

Register and clinical follow-up of patients with Peutz-Jeghers syndrome in Valencia

2020

Introduction and aims: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disease caused by a germline mutation of the STK11/LKB1 gene, located on chromosome 19p13.3. It is characterized by mucocutaneous hyperpigmentation, hamartomatous polyposis, and predisposition to cancer. The aim of the present study was to identify and register patients with Peutz-Jeghers syndrome, describe the disease, and estimate its prevalence in Valencia (Spain). Materials and methods: A print-out of the clinical histories from 10 hospitals was obtained utilizing the ICD-9 code 759.6 from the Minimum Basic Data Set of Hospital Admissions of the Spanish Ministry of Health and Consumer Affairs. Results: …

Could growth hormone play a role in Peutz Jeghers syndrome?

2013

Convincing experimental data suggest that the growth hormone (GH)/insulin-like growth factor-1(IGF-1) axis plays an important role in cancer development and behaviour. Epidemiological studies have supported an association with cancer, but not with tumour induction per se, although this is a distinction that is important mechanistically but not clinically [1]. We report the case of a 17-year-old man with delayed growth of pituitary origin, treated with growth hormone, in whom a diagnosis of Peutz-Jeghers syndrome (PJS) was subsequently made, and in whom, during the endoscopic follow-up, the number of polyps reduced dramatically, thus suggesting a role for GH in eliciting this disease.