Peutz-Jeghers syndrome: A case report

Peutz-jeghers syndrome is a rare inherited autosomal dominant disease which is characterized by mucocutaneous pigmentation and multiple polyps in the gastrointestinal tract. We report a case of 10 years old female who was referred to us from surgical department for the evaluation of brownish pigmented macules over lips, face, palms and soles. Patient was presented with recurrent abdominal pain along with vomiting and blood mixed stool for a month. Ultrasound of abdomen revealed jejuno-jejunal intussusception for which laparotomy was done during which multiple polyps were visualized. Polypectomy was done and biopsy revealed it to be tubulovillous adenoma. Patient was diagnosed as Peutz-jeghers syndrome as there were multiple polyps in the jejunum along with the characteristics mucocutaneous involvement.

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Recurrent Abdominal Pain in Peutz-Jeghers Syndrome: A Case Report

Journal of Bangladesh College of Physicians and Surgeons ◽

10.3329/jbcps.v37i3.41739 ◽

2019 ◽

Vol 37 (3) ◽

pp. 160-164

Author(s):

Sayeeda Anwar ◽

Nusrat Kamal ◽

Rokeya Khanom ◽

Subrota Kumar Roy ◽

Farzana Kabir ◽

...

Keyword(s):

Abdominal Pain ◽

Autosomal Dominant ◽

Recurrent Abdominal Pain ◽

Hamartomatous Polyps ◽

Recurrent Vomiting ◽

Mucocutaneous Pigmentation ◽

Peutz Jeghers Syndrome ◽

Supportive Management ◽

Black Pigmentation

Peutz-Jeghars Syndrome (PJS), also known as peri-orificial lentiginosis, is a condition of autosomal dominant inheritance. Here, mutation localized at (19p13.3) LKB1/ STK11. It is characterized by presence of mucocutaneous pigmentation and gastrointestinal (GI) hamartomatous polyps. This case of PJS, is a 7 year old girl who came with recurrent vomiting and abdominal pain for 1 year and weight loss for 8 months. She had multiple black pigmentation over lips and buccal mucosa. Endoscopy revealed multiple polyps in stomach and duodenum. Besides supportive management, polyps were removed by surgical intervention. Biopsy of these polyps showed hamartomatous type. Post operative period was uneventful. She recovered well. So far there was no recurrence of pain. She is on regular follow up. J Bangladesh Coll Phys Surg 2019; 37(3): 160-164

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GASTROINTESTINAL POLYPOSIS WITH MUCOCUTANEOUS PIGMENTATION IN CHILDREN (PEUTZ-JEGHERS SYNDROME)

PEDIATRICS ◽

10.1542/peds.28.4.655 ◽

1961 ◽

Vol 28 (4) ◽

pp. 655-661

Author(s):

James E. Wenzl ◽

Lloyd G. Bartholomew ◽

George A. Hallenbeck ◽

Gunnar B. Stickler

Keyword(s):

Small Intestine ◽

Abdominal Pain ◽

Surgical Treatment ◽

Gastrointestinal Bleeding ◽

Recurrent Abdominal Pain ◽

Malignant Change ◽

Review Of The Literature ◽

Gastrointestinal Polyposis ◽

Mucocutaneous Pigmentation ◽

Peutz Jeghers Syndrome

A case is reported in which a child had gastrointestinal polyposis associated with mucocutaneous pigmentations (the Peutz-Jeghers syndrome). He experienced severe recurrent abdominal pain caused by intermittent intussusception. Removal of the grossly palpable polyps from the small intestine and stomach controlled his symptoms. On the basis of a review of the literature it has become apparent that this disease may first become manifest during childhood. The symptoms are primarily those of recurrent abdominal pain and gastrointestinal bleeding in the presence of mucocutaneous pigmentation. The prognosis associated with this disease is excellent, and the risk of malignant change, if it really exists, is minimal. For this reason, it is urged that surgical treatment be conservative rather than radical, to avoid unnecessary loss of intestine.

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Peutz-Jeghars’ syndrome, a rare genetic disorder: A case report

Journal of Medical Research and Health Sciences ◽

10.15520/jmrhs.v3i7.221 ◽

2020 ◽

Vol 3 (7) ◽

Author(s):

Fabia Hannan Mone ◽

Kuntal Roy ◽

Gazi Zahirul Hasan, ◽

Kaushik Roy ◽

Qazi Sazib Ahamed, ◽

...

Keyword(s):

Autosomal Dominant ◽

Genetic Disorder ◽

Hamartomatous Polyps ◽

Gastrointestinal Malignancy ◽

Increased Risk ◽

Hamartomatous Polyposis Syndromes ◽

Mucocutaneous Pigmentation ◽

Dominant Disease ◽

Polyposis Syndromes ◽

Peutz Jeghers Syndrome

Abstract: Hamartomatous polyposis syndromes or Peutz-Jeghers syndrome (PJS) is a hereditary autosomal dominant disease characterized by benign hamartomatous polyps and mucocutaneous pigmentation in the digestive tract. It occurs mostly in the small intestine during first decade of life but frequently in the colon and stomach. Only a few cases have been reported in the duodenum1. Polyposis syndromes are common cause of adult intussusceptions, with polyps acting as lead points. Adult intussusceptions are rare and is almost always associated with that lead point2. Although hamartomatous polyps are not pre-malignant, there is an increased risk of gastrointestinal and non-gastrointestinal malignancy, commonly involving the small bowel. Most patients of PJS presents with acute abdomen and diagnosed as intussusceptions, commonly entero-enteric type but colo-colic intussusceptions are rare in Peutz-Jeghers syndrome3. To the best of our knowledge, synchronous colo-colic intussusception association in Peutz-Jeghers syndrome has not been previously reported.

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Bladder hamartoma in Peutz-Jeghers syndrome: a rare case report

African Journal of Urology ◽

10.1186/s12301-021-00172-8 ◽

2021 ◽

Vol 27 (1) ◽

Author(s):

Jai Kumar ◽

Mohammad Irfaan Albeerdy ◽

Nadeem Ahmed Shaikh ◽

Abdul Hafeez Qureshi

Keyword(s):

Urinary Bladder ◽

Filling Defect ◽

Hamartomatous Polyps ◽

Case Presentation ◽

Rare Case Report ◽

Mucocutaneous Pigmentation ◽

Dominant Disease ◽

Peutz Jeghers Syndrome ◽

Comprehensive Compilation

Abstract Background Peutz-Jeghers syndrome is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract (GIT). There have also been cases of extra GIT polyps such as the renal pelvis, urinary bladder, lungs and nares. Bladder hamartoma is an extremely rare finding, with only 12 cases described in the literature up to now. The rarity of the condition necessitates a comprehensive compilation of managements up to now so as to provide a better tool for the treatment of such conditions in the future. Case presentation A twenty-year-old male, known to have Peutz-Jeghers syndrome, presented to us complaining of obstructive urinary symptoms. A urethrogram done showed a filling defect at the base of the urinary bladder. The mass was resected transurethrally, and histopathology revealed a hamartoma of the bladder. The patient has since remained tumor-free on follow-up. Conclusions Transurethral resection of the bladder mass proved to be an effective therapy in this patient with no recurrence on the patient’s follow-up till now. There is still, however, a dearth of knowledge regarding the management of bladder hamartomas owing to the extreme rarity of the case.

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Abdominal intussusception associated with coeliac disease: case report and literature review

International Journal of Research in Medical Sciences ◽

10.18203/2320-6012.ijrms20211904 ◽

2021 ◽

Author(s):

Rashid Hameed ◽

Noshine Irrum ◽

Subodhini P. Arachchige ◽

Edwin Tan ◽

Jacinta Tobin

Keyword(s):

Abdominal Pain ◽

Case Report ◽

Literature Review ◽

Coeliac Disease ◽

Recurrent Abdominal Pain ◽

Immune Infiltration ◽

Disease Case ◽

Classical Pattern ◽

History Of

In genetically susceptible individuals, gluten ingestion triggers and immune infiltration and bowel damage in the classical pattern of coeliac disease, with variable symptoms. Intussusception is a condition where one segment of intestine ‘telescopes’ inside of another portion of intestine, which may cause symptoms of abdominal pain due to obstruction. Intussusception has been associated with coeliac disease. We report a 4-year-old girl presented with recurrent abdominal pain of variable severity and found to have intussusception on two occasions, which on both occasions reduced spontaneously during ultrasound examinations. She was later diagnosed with coeliac disease. This case highlights the importance of considering coeliac screening in patients with a history of recurrent abdominal pain and intussusception.

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Ileoscopy in the Diagnosis of lleal Lymphosarcoma

PEDIATRICS ◽

10.1542/peds.56.1.127 ◽

1975 ◽

Vol 56 (1) ◽

pp. 127-129

Author(s):

Seymour Katz ◽

Irwin Katzka ◽

Keith Schneider ◽

Mervin Silverberg

Keyword(s):

Abdominal Pain ◽

Case Report ◽

Gastrointestinal Tract ◽

Inflammatory Process ◽

Lower Abdominal Pain ◽

Recurrent Abdominal Pain ◽

Neoplastic Disease ◽

Direct Visualization ◽

Appendiceal Abscess ◽

The Right

Recent advances in flexible fiberoptic endoscopy have permitted direct visualization of segments of the gastrointestinal tract hitherto considered inaccessible. Preoperative diagnoses of diseases of these areas are subject to the vagaries of roentgen interpretation. The following case report illustrates the value of the colonoscope in distinguishing intralumenal ileal neoplastic disease from an inflammatory process (e.g., ileitis, appendiceal abscess). CASE REPORT W. M., a 15-year-old white youth, was referred for eveluation of intermittent lower abdominal pain of six weeks' duration. Prior to his admission, he experienced cramping abdominal pain, fever, cough, emesis, and diarrhea. This gradually abated, leaving a residuum of recurrent abdominal pain which was relieved partially with fiexion of the right thigh.

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Recurrent abdominal pain as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in an Asian girl: A case report and review of the literature

Journal of Microbiology Immunology and Infection ◽

10.1016/j.jmii.2012.07.003 ◽

2014 ◽

Vol 47 (6) ◽

pp. 550-554 ◽

Cited By ~ 4

Author(s):

Yun-Ju Chen ◽

Hsin-Hui Yu ◽

Yao-Hsu Yang ◽

Yu-Lung Lau ◽

Wen-I Lee ◽

...

Keyword(s):

Abdominal Pain ◽

Case Report ◽

Tumor Necrosis Factor ◽

Tumor Necrosis ◽

Tumor Necrosis Factor Receptor ◽

Recurrent Abdominal Pain ◽

Periodic Syndrome ◽

Review Of The Literature ◽

Necrosis Factor

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Abdominal epilepsy, an uncommon cause of chronic and recurrent abdominal pain: a case report

Clinical Case Reports ◽

10.1002/ccr3.711 ◽

2016 ◽

Vol 4 (12) ◽

pp. 1117-1119 ◽

Cited By ~ 7

Author(s):

Bonaventura C. T. Mpondo ◽

Godfrey Mwasada ◽

Azan A. Nyundo

Keyword(s):

Abdominal Pain ◽

Case Report ◽

Recurrent Abdominal Pain

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Mosaic epidermolytic ichthyosis - case report

Anais Brasileiros de Dermatologia ◽

10.1590/abd1806-4841.20132203 ◽

2013 ◽

Vol 88 (6 suppl 1) ◽

pp. 116-119 ◽

Cited By ~ 4

Author(s):

Marcela Sena Teixeira Mendes ◽

Samara Silva Kouzak ◽

Thaissa Araújo Aquino ◽

Gustavo Henrique Soares Takano ◽

Antonio de Padua Lima

Keyword(s):

Case Report ◽

Female Patient ◽

Autosomal Dominant ◽

The Other ◽

Autosomal Dominant Disease ◽

Epidermolytic Ichthyosis ◽

Dominant Disease ◽

Mosaic Form ◽

Two Populations ◽

Rare Autosomal Dominant Disease

Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic form, due to post zygotic mutation of the gene involved, constituting an individual formed by two populations of genetically distinct cells - one carrier of the mutation and the other without it. We report a case of mosaic epidermolytic ichthyosis diagnosed in a female patient.

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