Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study

• Published in: Journal of medical genetics Vol. 33; no. 2; pp. 157 - 160
• Main Authors: Distante, S, Nasioulas, S, Somers, G R, Cameron, D J, Young, M A, Forrest, S M, Gardner, R J
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.02.1996; BMJ; BMJ Publishing Group LTD
• Subjects: Adenomatous Polyposis Coli - diagnosis; Adult; Age of Onset; Aged; Biological and medical sciences; Child; Child, Preschool; Codon - genetics; Colectomy; DNA Mutational Analysis; Female; Gastroenterology. Liver. Pancreas. Abdomen; Gastrointestinal Hemorrhage - diagnosis; Gastrointestinal Hemorrhage - etiology; Genes, APC; Humans; Male; Medical sciences; Middle Aged; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Tumors; Human; Case study; Deletion; Digestive diseases; Genetics; Intestinal disease; Tumor; Exploration; Diagnosis; Familial adenomatous polyposis coli; Child; Genetic disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.33.2.157

A girl aged 5 years 8 months presented with rectal bleeding; her father had had familial adenomatous polyposis (FAP) and a colectomy at the age of 23. Endoscopy showed extensive polyposis and she had a colectomy. The proband and her father had the common codon 1309 5 bp deletion APC mutation. This mutation predisposes to early onset of FAP, and consideration needs to be given to having molecular testing of at risk members of these families done in childhood.