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Case Reports in Pediatrics 2014Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as...
Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality.
PubMed: 25165593
DOI: 10.1155/2014/623926 -
Folia Morphologica 2022A unique partial anomalous pulmonary venous return in combination with other rare malformations such as annular pancreas and a persistent umbilical vein was discovered...
A unique partial anomalous pulmonary venous return in combination with other rare malformations such as annular pancreas and a persistent umbilical vein was discovered in a female Caucasian cadaver during an anatomical dissection at the Paracelsus Medical University in Nuremberg, Germany. The pulmonary anomaly comprised the aberrant left superior pulmonary vein connecting the superior lobe of the left lung with the left brachiocephalic vein resulting in a left to right shunt. An annular pancreas without any signs causing duodenal compression was additionally found. To complete the constellation of malformations, a persistent umbilical vein within the round ligament fissure of the liver was also observed, connecting to an inferior branch of the extrahepatic left ramus of the portal vein. This rare constellation of malformations has been illustrated and thoroughly discussed with the currently available literature to develop a hypothesis for the genetic and developmental background.
Topics: Cadaver; Female; Humans; Pancreas; Pancreatic Diseases; Pulmonary Veins; Scimitar Syndrome
PubMed: 33749806
DOI: 10.5603/FM.a2021.0026 -
Case Reports in Genetics 2015A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present,...
A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.
PubMed: 26770845
DOI: 10.1155/2015/937201 -
Journal of Minimal Access Surgery 2018Portal annular pancreas (PAP) is a pancreatic congenital anomaly consisting of pancreatic parenchyma encircling the portal vein and/or the superior mesenteric vein. It...
Portal annular pancreas (PAP) is a pancreatic congenital anomaly consisting of pancreatic parenchyma encircling the portal vein and/or the superior mesenteric vein. It has been reported that the risk of developing a post-operative pancreatic fistula is higher following pancreaticoduodenectomy in patients with PAP, probably because of the possibility of leaving undrained a portion of pancreatic parenchyma during the reconstructive phase. Few manuscripts have reported a surgical technique of pancreaticoduodenectomy in case of PAP, herein we report the first case of a patient with PAP undergoing laparoscopic pancreaticoduodenectomy.
PubMed: 29582803
DOI: 10.4103/jmas.JMAS_235_17 -
Oncology Letters May 2016Gastrinoma is a gastrin-secreting tumor that is associated with Zollinger-Ellison syndrome. The majority of cases occur in the pancreas, followed by the duodenum. Early...
Gastrinoma is a gastrin-secreting tumor that is associated with Zollinger-Ellison syndrome. The majority of cases occur in the pancreas, followed by the duodenum. Early diagnosis is difficult due to the relative rarity of the tumor and the lack of specific symptoms. In the current study, a 68-year-old female patient presented at the Second Affiliated Hospital, Zhejiang University (Hangzhou, China) due to intermittent abdominal pain and watery diarrhea. The patient was treated by surgical resection and was pathologically diagnosed with a well-differentiated pancreatic neuroendocrine tumor (gastrinoma; grade 1). No evidence of recurrence was observed during 1 year of follow-up. Furthermore, a review of the Chinese literature was performed, which analyzed an additional 17 published cases of gastrinoma. The tumor size ranged between 0.5×0.5 cm and 7.5×6.3×5.1 cm. The pancreas was the most common site of occurrence, accounting for 72% (13/18) of cases, followed by the duodenum (28%; 5/18). The most common initial symptom was abdominal pain (89%; 16/18), followed by diarrhea (56%; 10/18). In 18 cases, including the present case and 17 previous cases, the level of gastrin ranged between 137 and 1,550 pg/ml (normal range, 5-100 pg/ml). Of the 17 previous cases, 11 patients underwent surgery and 6 patients received conservative therapy due to metastasis or patient choice. Overall, gastrinoma remains a rare disease. Complete removal of the lesion is the standard curative treatment and conservative treatment is only recommended for patients unsuitable for surgery or for those with widespread metastasis.
PubMed: 27123130
DOI: 10.3892/ol.2016.4397 -
Journal of the Belgian Society of... 2024A complete annular pancreas, a rare congenital anomaly, can lead to duodenal obstruction, causing recurrent symptoms like vomiting and often requiring surgical...
A complete annular pancreas, a rare congenital anomaly, can lead to duodenal obstruction, causing recurrent symptoms like vomiting and often requiring surgical intervention for relief.
PubMed: 38312145
DOI: 10.5334/jbsr.3432 -
Gut and Liver Jul 2012
PubMed: 22844573
DOI: 10.5009/gnl.2012.6.3.403 -
European Journal of Medical Genetics May 2018Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It... (Review)
Review
Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis. The genomic imbalances investigation by Multiplex Ligation-dependent Probe Amplification (MLPA) and Chromosomal Microarray Analysis (CMA) revealed a distal deletion of 1,048 kb at 22q11.2 encompassing the region from Low Copy Repeats (LCRs) D to E. We did review of the literature and genotype-phenotype correlation. This is the sixth case of distal 22q11.2 deletion resembling CFM and the second encompassing the region between LCRs D to E. All cases share some phenotypic signs, such as preauricular tags, facial asymmetry, cleft lip and palate, and congenital heart diseases. Candidate genes in this region have been studied by having an important role in pharyngeal arches developmental and in congenital heart diseases, such as HIC2, YPEL1and MAPK1/ERK2. This case corroborates the phenotypic similarity between 22q11.2 distal deletion and CFM/OAVS. It also contributes to genotype-phenotype correlation and reinforces that candidate genes for CFM, in the 22q11.2 region, might be located between LCRs D and E.
Topics: 22q11 Deletion Syndrome; Child; Diagnosis, Differential; Female; Genetic Loci; Genotype; Goldenhar Syndrome; Humans; Phenotype
PubMed: 29288792
DOI: 10.1016/j.ejmg.2017.12.013 -
Journal of Clinical and Diagnostic... Nov 2015Intestinal atresia accounts for approximately one third of all cases of neonatal intestinal obstruction. There is controversy regarding pathogenesis of congenital...
INTRODUCTION
Intestinal atresia accounts for approximately one third of all cases of neonatal intestinal obstruction. There is controversy regarding pathogenesis of congenital atresia and stenosis of small bowel. Studies regarding clinical manifestations and specific histopathological features of neonatal intestinal atresia are scarce in Indian literature.
AIM
To understand the histomorphological features and thus suggest pathophysiology of cases with Intestinal Atresia.
MATERIALS AND METHODS
Out of 147 cases, of intestinal obstruction in newborn studied over a period of 5 years, 39 cases of intestinal atresia were found. Their histomorphological details with clinical manifestations were studied.
RESULTS
Type II was the commonest type of atresia. Associated anomalies noted were gastroschisis, volvulus, anal stenosis, microcolon, annular pancreas, meconium cyst and duplication cyst. Histological changes observed were ulceration, flattening, abnormal villous configuration, luminal obliteration, narrowing, haemangiomatous proliferation of blood vessels, fibrosis, haemorrhage, calcification, and mesenchymal condensation around the blood vessels. Gangrene and perforation has also noted in some cases.
CONCLUSION
An intrauterine intestinal ischemia due to vascular pathology followed by resorption of the bowel is the possible explanation for the development of intestinal atresia.
PubMed: 26674207
DOI: 10.7860/JCDR/2015/13320.6838 -
Surgical and Radiologic Anatomy : SRA May 2021Annular pancreas encountered in adults and jejunal arterial variations are rare. Anatomical variations can cause conflicts between oncology and surgical safety.
PURPOSE
Annular pancreas encountered in adults and jejunal arterial variations are rare. Anatomical variations can cause conflicts between oncology and surgical safety.
METHODS
Case report of a 68-year-old man suffering from vomiting because of an annular pancreas and a ductal adenocarcinoma of the pancreas head invading the second portion of the duodenum.
RESULTS
Contrast-enhanced computed tomography showed multiple arterial variations describing the absence of the coeliac trunk such that the left gastric artery (LGA), splenic artery and superior mesenteric artery (SMA) were arising separately from the aorta. The accessory left hepatic artery arose from the LGA; and both the common hepatic artery and combined trunk of the replaced right hepatic artery with the higher replaced first jejunal artery separately arose close to the root of the SMA. The patient underwent curative pancreaticoduodenectomy which achieved 3 years of recurrence-free survival.
CONCLUSION
This was an extraordinary case of annular pancreas with first jejunal arterial variation detailing an embryological interpretation as well as considerations for balancing short- and long-term outcomes.
Topics: Aged; Carcinoma, Pancreatic Ductal; Computed Tomography Angiography; Humans; Imaging, Three-Dimensional; Male; Mesenteric Artery, Superior; Pancreas; Pancreatic Diseases; Pancreatic Neoplasms; Pancreaticoduodenectomy; Treatment Outcome
PubMed: 33481131
DOI: 10.1007/s00276-020-02671-9