American Journal of Medical Sciences and Medicine, 2015, Vol. 3, No. 2, 14-19 Available online at http://pubs.sciepub.com/ajmsm/3/2/2 © Science and Education Publishing DOI:10.12691/ajmsm-3-2-2 Puetz Jegher Syndrome in a Family in Ghana: A Case Series and Clinicopathologic Review Mary Y Afihene, Babatunde M Duduyemi * Department of Medicine, Kwame Nkrumah University of Science & Technology, Kumasi, Ghana and Komfo Anokye Teaching Hospital, Kumasi, Ghana *Corresponding author: babsdudu@yahoo.com Received April 10, 2015; Revised May 03, 2015; Accepted May 14, 2015 Abstract Background: Peutz Jegher syndrome (PJS) is a condition in which multiple hamartomatous polyps are present in the gastrointestinal tract in association with distinctive mucocutaneous pigmentations. Some patients are diagnosed as children, where others might not be diagnosed until they reach their teen or adult years. Methodology: We studied a family of 7 with 5 having symptoms and signs of Peutz-Jegher syndrome using the review of clinical notes, diagnostic and interventional endoscopy, surgical intervention and histopathological assessment over a period of 6 years. Result: Mother and 3 have polyps and muco-cutaneous pigmentation, one has polyps only, one has muco-cutaneous pigmentation only and one has neither muco-cutaneous pigmentation nor polyps. Conclusion: The report demonstrated that PJS is a hereditary disease with variable penetrance. A molecular and genetic assessment of this family is recommended. Keywords: PJS, buccal pigmentation, harmatomatous polyps, endoscopy Cite This Article: Mary Y Afihene, and Babatunde M Duduyemi, “Puetz Jegher Syndrome in a Family in Ghana: A Case Series and Clinicopathologic Review.” American Journal of Medical Sciences and Medicine, vol. 3, no. 2 (2015): 14-19. doi: 10.12691/ajmsm-3-2-2. 1. Introduction Peutz-Jeghers syndrome (PJS) is a condition in which multiple hamartomatous polyps are present in the gastrointestinal tract in association with distinctive mucocutaneous pigmentations [1,2,3]. Individuals with PJS have hamaratomas predominantly in the small intestine and varying number of polyps in the large intestine and stomach. Pigment spots are often found on the lips, face and body which disappear sometime in the teen years. The age at diagnosis depends on the severity of symptoms [4]. PJS manifests in varying ranges of severity and symptom development. Some patients are diagnosed as children, where others might not be diagnosed until they reach their teen or adult years. The onset of symptoms is the usual catalyst for finding a diagnosis of PJS [5]. Patients will typically develop tens to thousands of hamartomas in the stomach and intestines most of which are found in the small intestine. Gastrointestinal endoscopy and X-rays are used in detecting polyps but are defective in showing polyps in the small intestine [6]. Recent studies have shown that there is an increased risk of cancer over the general population and STK11 gene locus has been identified for the syndrome. Current genetic testing can identify a mutation in 30-80% of PJS patients [7]. A new method is in testing that promises to increase genetic identification [8]. We present report of a family with 5 out of 7 having symptoms suggestive of Puetz Jegher syndrome a rare disease with very limited reports in our environment. 2. Methodology We studied a family of 7 with mother and 4 children having symptoms and signs of Peutz-Jegher syndrome using the review of clinical notes, diagnostic and interventional endoscopy, surgical intervention and histopathological assessment. The family was followed up for 6 years for this preliminary study and they are still been followed at the medical outpatient department of the Komfo Anokye Teaching Hospital, Kumasi, Ghana. 3. Case Reports 3.1. Control KA is a 44 year old male and father of the family who has no pigmentation or polyp. He serves as control for the rest of the family. 3.2. Case 1 JOM is a 44 year old female and mother of the family who is the index case. She had been attending surgical outpatient clinic since May 2003 with abdominal pains which she had experienced for 8 years. Two years before, she developed pyelonephritis and was referred to medical outpatient where she was admitted