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All Journal Archives of Pediatric Gastroenterology, Hepatology, and Nutrition
Dwi Prasetyo
Department of Child Health, Faculty of Medicine Padjadjaran University, Dr. Hasan Sadikin General Hospital Bandung, Indonesia
Medicine & Pharmacology

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Clinical Manifestation of Peutz-Jeghers Syndrome in Children with Gastrointestinal Bleeding: A Case Report Yudith Setiati Ermaya; Dyah Rahmawanti; Ina Rosalina; Dwi Prasetyo
Archives of Pediatric Gastroenterology, Hepatology, and Nutrition Vol. 1 No. 1 (2022): APGHN Vol. 1 No. 1 May 2022
Publisher : The Indonesian Society of Pediatric Gastroenterology, Hepatology, and Nutrition

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (6225.367 KB) | DOI: 10.58427/apghn.1.1.2022.28-34

Abstract

The Peutz-Jeghers Syndrome (PJS) is a rare familial disorder with manifestation that varies from asymptomatic to a life-threatening emergency. The PJS is caused by mutations of the tumor suppressor gene STK11 in embryonic cells, which is traditionally characterized by the development of melanotic macules and intestinal polyps. This case is about a boy, five years old, admitted to the emergency unit with a chief complaint of dark-red blood stool, pale appearance, abdominal pain, and nausea. Upon physical examination, there were multiple black spots on the lips and buccal mucosa (melanotic macules). Laboratory findings showed hemoglobin levels of 5.9 g/dL and a hematocrit of 18.7%. Multiple polyps at the fundus, corpus, antral, ileocecal, terminal ileal, transverse colon, sigmoid colon, and rectum were identified from the endoscopy examination. There were signs of upper and lower gastrointestinal bleeding in the pylorus of the stomach and the middle part of the descendent colon from the scintigraphy, respectively.
Co-Authors Dyah Rahmawanti Ina Rosalina Yudith Setiati Ermaya