Abdomen agudo en un adolescente con poliposis juvenil. A propósito de un caso

Juvenile polyposis syndrome is an autosomal-dominant condition disease characterized by multiple juvenile polyps in the gastrointestinal tract. These polyps may be present in the entire digestive tract; generally in the colon. We present the case of a 16-year-old adolescent with a history of polyps, who had had bowel resections for acute abdomen on two occasions (at 5 and 11 years of age). Endoscopic procedures were carried out, finding polyps and performing a polypectomy. After 24 hours, the patient presented proctorrhagia associated with acute abdominal pain by an obstruction, for which he was surgically intervened with an exploratory laparotomy where an intussusception was found.

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SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history

BMJ Case Reports ◽

10.1136/bcr-2020-236855 ◽

2020 ◽

Vol 13 (12) ◽

pp. e236855

Author(s):

Wendy Chang ◽

Patricia Renaut ◽

Casper Pretorius

Keyword(s):

Family History ◽

Autosomal Dominant ◽

Signs And Symptoms ◽

Juvenile Polyposis ◽

Hereditary Haemorrhagic Telangiectasia ◽

Gi Tract ◽

Juvenile Polyposis Syndrome ◽

Polyposis Syndrome ◽

History Of ◽

Gastric Mass

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.

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Hamartomatous Polyps and Associated Syndromes

Clinics in Colon and Rectal Surgery ◽

10.1055/s-0036-1582441 ◽

2016 ◽

Vol 29 (04) ◽

pp. 330-335 ◽

Cited By ~ 1

Author(s):

Molly Cone

Keyword(s):

Colorectal Cancer ◽

Gastrointestinal Tract ◽

Autosomal Dominant ◽

Juvenile Polyposis Syndrome ◽

Inherited Disorders ◽

Polyposis Syndrome ◽

Hamartomatous Polyps ◽

Hereditary Syndromes ◽

Colon And Rectum ◽

Peutz Jeghers Syndrome

AbstractHamartomatous polyps of the gastrointestinal tract can occur sporadically, however, for several hereditary syndromes, their presence is one of the major clinical features. Peutz–Jeghers syndrome, juvenile polyposis syndrome, and the PTEN hamartoma syndromes are autosomal dominant inherited disorders that predispose to formation of such polyps, especially in the colon and rectum. These can lead to increased colorectal cancer risk and should be followed and managed appropriately. In this article, the three major hereditary hamartomatous syndromes are described, including presentation, colorectal surveillance, and management.

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Cowden’s disease: a rare cause of oral papillomatosis

The Journal of Laryngology & Otology ◽

10.1258/0022215021910393 ◽

2002 ◽

Vol 116 (3) ◽

pp. 221-223 ◽

Cited By ~ 14

Author(s):

Marissa Botma ◽

Derrick I. Russell ◽

Robin A. Kell

Keyword(s):

Gastrointestinal Tract ◽

Female Patient ◽

Autosomal Dominant ◽

Past History ◽

Breast Malignancy ◽

Autosomal Dominant Condition ◽

Increased Risk ◽

Cowden’S Disease ◽

History Of ◽

Dominant Condition

Cowden’s disease is a rare autosomal dominant condition with characteristic mucocutaneous papillomatous lesions. These lesions are mucocutaneous markers for increased risk of malignancies in the thyroid, breast and the gastrointestinal tract. We discuss the case of a 50-year-old female patient who presented with oral and cutaneous papillomoas and a past history of breast malignancy. Important management aspects of these patients are considered.

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Intestinal Obstruction in a Child with Massive Ascariasis

Case Reports in Pediatrics ◽

10.1155/2021/8857291 ◽

2021 ◽

Vol 2021 ◽

pp. 1-4

Author(s):

Munanura Turyasiima ◽

Paul Matovu ◽

Gloria Kiconco ◽

Walufu Ivan Egesa ◽

Phillip Sunday ◽

...

Keyword(s):

Abdominal Pain ◽

Intestinal Obstruction ◽

Clinical Presentation ◽

Acute Abdominal Pain ◽

Exploratory Laparotomy ◽

Postoperative Management ◽

Soft Mass ◽

History Of ◽

Abdominal Examination ◽

The Tropics

Soil-transmitted helminths are so prevalent in the tropics and low developing countries. Pediatric clinical presentation of ascariasis, the most common helminth, as the intestinal obstruction is not only rare but also less described. We present a case of a 4-year-old girl with massive ascariasis. She presented with a 3-day history of acute abdominal pain associated with vomiting and an episode of passing long white roundworms, about 5 cm in length, through the nose. The child had mild constipation and passed pellets of hard stool once in the last 72 hours. She was in fair general condition at the examination but had significant findings on abdominal examination. On palpation, there was a soft mass localized in the left paraumbilical area and no tenderness, with normal bowel sounds on auscultation. Exploratory laparotomy was sanctioned where roundworms (Ascaris lumbricoides), saucepan full, were delivered through a 2.5 cm enterotomy incision. Postoperative management was carried out, and the child discharged on the 7th day of treatment including a 3-day course of albendazole 400 mg daily.

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Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene

Case Reports in Pediatrics ◽

10.1155/2017/5321860 ◽

2017 ◽

Vol 2017 ◽

pp. 1-3 ◽

Cited By ~ 2

Author(s):

Amna Ahmed ◽

Badr Alsaleem

Keyword(s):

Colorectal Cancer ◽

Genetic Screening ◽

Autosomal Dominant ◽

Novel Mutation ◽

Juvenile Polyposis ◽

Entire Colon ◽

Juvenile Polyposis Syndrome ◽

Polyposis Syndrome ◽

Juvenile Polyps ◽

Increased Risk

Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps. Subsequent genetic screening revealed a novel mutation in SMAD4, exon 5 (p.Ser144Stop). To the best of our knowledge, this mutation has not been reported before. Offering genotypic diagnosis for patients with JPS is an important step for strategic plan of management.

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A 16-Year-Old Female with Peutz-Jeghers Syndrome

Journal of Enam Medical College ◽

10.3329/jemc.v4i3.20958 ◽

2014 ◽

Vol 4 (3) ◽

pp. 184-187

Author(s):

Mufti Munsurar Rahman ◽

Mamunur Rashid ◽

Rukhsana Parvin ◽

Arun Joyati Tarafder

Keyword(s):

Abdominal Pain ◽

Gastrointestinal Tract ◽

Intestinal Obstruction ◽

Buccal Mucosa ◽

Autosomal Dominant ◽

Previous History ◽

Autosomal Dominant Disorder ◽

Colicky Abdominal Pain ◽

History Of ◽

Peutz Jeghers Syndrome

Peutz-Jeghers syndrome is a rare autosomal dominant disorder of hamartomatous polyposis of the gastrointestinal tract, with pigmentation around lips and macules on the buccal mucosa that typically manifests itself as recurrent colicky abdominal pain and intestinal obstruction due to intussusception. Here we report a case of a 16-year-old girl who presented with abdominal pain, vomiting and previous history of laparotomy for intussusception. Multiple well demarcated black pigmented macules on lips, perioral region, buccal mucosa, digits, palms and soles were noted. She was diagnosed as a case of Peutz-Jeghers syndrome and managed conservatively. DOI: http://dx.doi.org/10.3329/jemc.v4i3.20958 J Enam Med Col 2014; 4(3): 184-187

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Antibiotic Therapy Did Not Prevent the Rupture of Mycotic Aneurysm of the Superior Mesenteric Artery

The Heart Surgery Forum ◽

10.1532/hsf.1322 ◽

2015 ◽

Vol 18 (3) ◽

pp. 088

Author(s):

Ye-tao Li ◽

Xiao-bin Liu ◽

Tao Wang

Keyword(s):

Abdominal Pain ◽

Infective Endocarditis ◽

Aortic Valve ◽

Superior Mesenteric Artery ◽

Mesenteric Artery ◽

Mycotic Aneurysm ◽

Acute Abdominal Pain ◽

Rare Complication ◽

Emergency Operation ◽

History Of

<p class="p1"><span class="s1">Mycotic aneurysm of the superior mesenteric artery (SMA) is a rare complication of infective endocarditis. We report a case with infective endocarditis involving the aortic valve complicated by multiple septic embolisms. The patient was treated with antibiotics for 6 weeks. During preparation for surgical treatment, the patient developed acute abdominal pain and was diagnosed with a ruptured SMA aneurysm, which was successfully treated with an emergency operation of aneurysm ligation. The aortic valve was replaced 17 days later and the patient recovered uneventfully. In conclusion, we present a rare case with infective endocarditis (IE) complicated by SMA aneurysm. Antibiotic treatment did not prevent the rupture of SMA aneurysm. Abdominal pain in a patient with a recent history of IE should be excluded with ruptured aneurysm.</span></p>

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Sigmoid Volvulus in 16-year-old Boy with an Associated Anomalous Congenital Band

The American Surgeon ◽

10.1177/000313481307901114 ◽

2013 ◽

Vol 79 (11) ◽

pp. 1140-1141 ◽

Cited By ~ 4

Author(s):

Ann A. Albert ◽

Tracy L. Nolan ◽

Bryan C. Weidner

Keyword(s):

Abdominal Pain ◽

African American Male ◽

Pediatric Patients ◽

Primary Anastomosis ◽

Exploratory Laparotomy ◽

Sigmoid Volvulus ◽

Sudden Onset ◽

Contrast Enema ◽

Pediatric Age Group ◽

History Of

Sigmoid volvulus, a condition generally seen in debilitated elderly patients, is extremely rare in the pediatric age group. Frequent predisposing conditions that accompany pediatric sigmoid volvulus include intestinal malrotation, omphalomesenteric abnormalities, Hirschsprung's disease, imperforate anus and chronic constipation. A 16-year-old previously healthy African American male presented with a 12 hour history of sudden onset abdominal pain and intractable vomiting. CTwas consistent with sigmoid volvulus. A contrast enema did not reduce the volvulus, but it was colonoscopically reduced. Patient condition initially improved after colonoscopy, but he again became distended with abdominal pain, so he was taken to the operating room. On exploratory laparotomy, a band was discovered where the mesenteries of the sigmoid and small bowel adhered and created a narrow fixation point around which the sigmoid twisted. A sigmoidectomy with primary anastomosis was performed. The diagnosis of sigmoid volvulus may be more difficult in children, with barium enema being the most consistently helpful. Seventy percent of cases do not involve an associated congenital problem, suggesting that some pediatric patients may have congenital redundancy of the sigmoid colon and elongation of its mesentery. The congenital band found in our patient was another potential anatomic factor that led to sigmoid volvulus. Pediatric surgeons, accustomed to unusual problems in children, may thus encounter a condition generally found in the debilitated elderly patient.

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Ceftriaxone-Induced Acute Pancreatitis

Annals of Pharmacotherapy ◽

10.1177/106002809302700108 ◽

1993 ◽

Vol 27 (1) ◽

pp. 36-37 ◽

Cited By ~ 18

Author(s):

Anthony E. Zimmermann ◽

Brian G. Katona ◽

Joginder S. Jodhka ◽

Richard B. Williams

Keyword(s):

Acute Pancreatitis ◽

Abdominal Pain ◽

Acute Abdominal Pain ◽

Signs And Symptoms ◽

Etiologic Agent ◽

Antibiotic Regimen ◽

Intravenous Injections ◽

Case Summary ◽

Catheter Sepsis ◽

History Of

OBJECTIVE: To report a case of probable ceftriaxone-induced acute pancreatitis. CASE SUMMARY: A patient with a history of short-bowel syndrome on home total parenteral nutrition developed fever, chills, and right flank pain. She was diagnosed with gram-negative catheter sepsis and prescribed antibiotic therapy to be administered for four weeks. After completion of the first week of therapy, the antibiotic regimen was changed to intravenous injections of ceftriaxone to be given daily at home. Prior to discharge the patient developed acute abdominal pain, leukocytosis, jaundice, and markedly elevated lipase and amylase concentrations consistent with acute pancreatitis. The patient's condition improved upon discontinuation of the ceftriaxone and the remainder of her stay was uneventful. DISCUSSION: There is only one other case report in the literature of probable ceftriaxone-induced pancreatitis. Multiple other medications have been implicated in causing acute pancreatitis. The exact mechanism of this uncommon adverse effect of ceftriaxone is unknown. CONCLUSIONS: There was a temporal relationship between the development of this patient's signs and symptoms and the administration of ceftriaxone. We could not identify any other factors that may have been responsible for the development of her acute pancreatitis. Ceftriaxone should be considered as a possible etiologic agent in patients who present with acute abdominal pain and elevated lipase and amylase concentrations.

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Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations

Genetics Research ◽

10.1017/s0016672316000021 ◽

2016 ◽

Vol 98 ◽

Cited By ~ 8

Author(s):

JAMES ZIAI ◽

ELLEN MATLOFF ◽

JAEHYUK CHOI ◽

NINANI KOMBO ◽

MIGUEL MATERIN ◽

...

Keyword(s):

Colon Cancer ◽

Autosomal Dominant ◽

Ashkenazi Jewish ◽

Cancer Genes ◽

Jewish Family ◽

Hereditary Colon Cancer ◽

Juvenile Polyps ◽

Cancer Phenotype ◽

Management Recommendations ◽

Dominant Condition

SummaryHereditary mixed polyposis is a genetically heterogeneous, autosomal dominant condition with adenomatous, hyperplastic and juvenile polyps. We conducted a comprehensive clinical evaluation of a large Ashkenazi Jewish family with this phenotype and performed extensive genetic testing. As seen in one previous report, a 40 kb duplication upstream of GREM1 segregated with the polyposis/colon cancer phenotype in this kindred. Our study confirms the association of GREM1 with mixed polyposis and further defines the phenotype seen with this mutation. This gene should be included in the test panel for all Jewish patients with mixed polyposis and may be considered in any Ashkenazi patient with unexplained hereditary colon cancer when mutations in other hereditary colon cancer genes have been ruled out.

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