Hernia of Morgagni is congenital defects in the diaphragm. They are mostly asymptomatic and present with vague symptoms when they do so. A high index of suspicion is required for timely diagnose of this condition. Here we present the case of a 65-year-old male patient presented to our institute with constipation for the past six months. Chest radiology raised the suspicion of a hernia which was further confirmed by contrast studies. Laparotomy was done and the hernia sac identified, colon and greater omentum reduced and defect repaired. He was discharged in stable condition and was doing well on follow-up. Hernia of Morgagni (MH) is a congenital defect in the diaphragm. It is located posterolateral to the sternum and is also referred as a retrosternal, parasternal or subcostosternal diaphragmatic hernia. Giovanni Morgagni first described it in 1761 while performing a post-mortem examination and hence the name. It is the rarest of all congenital diaphragmatic hernias (CDH) accounting for only 2%-3% of all cases [These hernias are more common in the pediatric population than in the adult. The foramina of Morgagni is a retrosternal and anterior defect in the diaphragm and these hernias usually occur in the anterior mediastinum or on the right side. MH frequently contain the omental fat accompanied by the transverse colon. Horton, et al. reports 91% right-sided cases in his study with predisposing factors in 41% of them. Females constituted 62% of the cases with the average age of the sample being 53 years of age [A 65- year-old male with past medical history of hypertension presented to the hospital with a six-month history of severe constipation intermittently. He had a bowel movement every two to three days. He had tried multiple medications and herbal treatment and at presentation required enemas to relieve his constipation. He, however, was passing flatus and had no other associated symptoms. He denied any abdominal pain, weight loss, change in stool or any significant family history. He reported a balanced diet. The patient was a laborer by profession. On physical examination, at the time of presentation in the outpatient clinic, he did not show any signs of intestinal obstruction although reduced air entry was noticed bilaterally in the lower lung fields. His general physical examination and other systemic examinations were unremarkable.The patient has advised baselines labs along with chest radiology and barium study. His baseline labs that included complete blood count turned to be normal. Chest radiography raised the suspicion of bowel in the pleural cavity. His barium study, however, confirmed the diagnosis as stated below Figure . The patient was admitted for surgical closure of a hernia. An upper central abdominal incision was given and upon opening the peritoneal cavity, the defect in the diaphragm was clearly visualized Figure  along wiPostoperatively, the patient was mobilized, his diet progressed and was discharged once he was stable. He followed up in clinic after a few weeks and was doing well with regular bowel movements. Last follow-up after six months was unremarkable.Congenital Morgagni hernia is believed to be caused by a failure in the fusion of the septum transverse of the diaphragm and the costal arches, which later on exacerbated by increased intraperitoneal pressure gives rise to the hernia . PathophIt presents with non-specific symptoms in adults such as vague abdominal discomfort, flatulence, indigestion, constipation, loss of appetite or even respiratory compromise. However, cases with bowel obstruction and strangulation have also been reported. Some patients can even be asymptomatic and diagnosed only incidentally. Since these symptoms are so common, often they have attributed to other factors such as dyspepsia that is missed. A high index of suspicion is therefore required. Neonates present with acute abdomen or acute respiratory distress syndrome whereas children might present with repeated chest infections .X-ray radiographs are effective diagnostic tools for Morgagni hernia which appear as fatty mass, if the omental fat is herniating or as bowel loops if it’s along with the large intestine . PromineToday Morgagni hernias are no longer considered emergency cases, however, each patient is evaluated individually and surgical management is recommended to avoid any emergencies. If the defect is larger or the bowel is in the sac, the risk of herniation becomes high and surgery is indicated. With older patients, general anesthesia and surgical risks are also given special attention. Kuster, et al. reported the first laparoscopic repair in 1992 following which laparoscopy has become the mainstay . It has In conclusion, we presented a rare case of a hernia of Morgagni in an elderly male presenting as constipation. Even though they are no longer regarded as emergency cases, surgical correction must be recommended to avoid future emergencies where bowel can herniate into the sac. Benign presentations are rare and hence a high index of suspicion is required.


Intravenous leiomyomatosis is a special type of uterine leiomyoma and features formation and growth of benign leiomyoma tissue within vascular wall. Benign metastatic leiomyoma refers to benign leiomyoma metastasizing to extra-uterine sites, dominantly lung. Solitary or multiple small nodules in the lung can be seen in image scans.We report 2 cases of intravenous leiomyomatosis with inferior vena cava or intracardiac extension and concurrent multiple nodules in bilateral lungs.Case 1 was a 40-year-old woman with a large mass in pelvic cavity, masses in heart chambers, and disseminates pulmonary nodules detected at preoperative image scans. Masses in pelvic cavity and heart were resected in a 2-stage surgery. Histology examination confirmed the diagnosis of intravenous leiomyomatosis. Pulmonary nodules stayed stable during follow-up. Case 2 was a 37-year-old woman with 3 times of uterine-related surgeries. A pelvic mass appeared again and filling defect was observed in left ovarian vein, right renal vein, right common iliac vein, and inferior vena cava. Tumors in pelvic cavity and within vessels were removed in a 1-stage surgery. Histology examination confirmed the diagnosis of intravenous leiomyomatosis. Pulmonary nodules remained stable during follow-up.The incidence of benign metastatic leiomyoma in patients with intravenous leiomyomatosis might be relatively high. Metastasis of intravenous leiomyomatosis lesions was a possible source of benign metastatic leiomyoma in these cases. Benign metastatic leiomyoma (BML) refers to a benign leiomyoma metastasizing to extra-uterine sites, dominantly lung. About 60 cases have been reported in the literature. Nodules in 70% of all cases are disseminated in double lungs, with a mean number of approximately 6 and a mean diameter of 1.8 cm. Solitary or multiple small nodules in the lung can been seen in image scans. Both IVL with inferior vena cava or intracardiac extension and BML are uterine smooth muscle tumors with unusual growth patterns. Herein, we report 2 cases of IVL with inferior vena cava or intracardiac extension and concurrent multiple nodules in bilateral lungs.Intravenous leiomyomatosis (IVL) is a special type of uterine leiomyoma and features formation and growth of benign leiomyoma tissue within vascular wall. The tumor can grow along blood vessels, extending to iliac vein, inferior vena cava, and even heart.22.1The patient was 40 years old, gravid 2, and parity 1. Pelvic ultrasonography during routine physical examination in 2009 revealed a mass sized 2 cm within uterus. In June 2011, the patient presented frequent micturition, 8 to 12 times/d. Pelvic ultrasonography revealed the uterine mass enlarged obviously, with a diameter of 10 cm. The patient rejected surgery till 10 months later. Computed tomography (CT) of pelvic cavity in April 2014 showed a 7.0 × 4.7 cm sized, irregular shaped, unclear boundary, and soft tissue density mass within uterus. CT pulmonary angiography and CT venography suggested a strip of filling defect in right ventricle and right atrium, partially overlapping the tricuspid valve. Multiple round-shaped nodules of different sizes were randomly distributed in bilateral lung field , smooth muscle actin (SMA) (+), S-100 (−), estrogen receptor (ER) (+), and progesterone receptor (PR) (+). Anticoagulation treatment with warfarin and gonadotropin releasing hormone agonist (GnRHa) therapy were administered for 6 months. On December 24, 2014, the patient received a second-stage operation, laparoscopic hysterectomy, and bilateral oophorectomy. During the operation, the uterus was as large as 8 weeks’ pregnant uterus, and there were multiple cystic masses on the right side of uterus, sized about 6 × 3 cm, spreading into right iliac vessels. Complete resection of tumors was achieved. Histological and immunohistochemical features were same as masses removed from heart chambers. The final diagnosis was IVL with intracardiac extension. And pulmonary nodules were suspected as pulmonary BML, unnecessary for further treatment. The patient rejected postoperative hormonal treatment. No signs of recurrence were observed and pulmonary nodules stayed stable , SMA (+), CD117 (−), ER (+), and PR (+). Tumors in vessels and pelvic cavity were resected completely. Nodules in bilateral pulmonary were clinically suspected as pulmonary BML. Six days after the surgery, serum follicle stimulating hormone level was 29.18 IU/L, and serum estrogen 2 level was 37 pg/mL.On October 10, 2014, CT scans revealed multiple mixed density masses in pelvic cavity, and the largest locating on the left side of bladder sized 12 × 7.2 cm. Filling defect appeared again in right iliac vein, right common iliac vein, and lower part of inferior vena cava. Then GnRHa therapy was administered for 6 months. In April 2015, CT scans showed pelvic mass with a size of 12.9 × 6.0 cm, and intravascular filling defect remained stable. Multiple nodules in bilateral lungs changed little in the process (Fig. 2.3The report was ethically approved by the Institutional Board of Peking Union Medical College Hospital. Informed consent was obtained from both the patients.3Both IVL and BML were leiomyomas with benign histological characteristics, no abnormal mitosis and no atypia, but they had special growth patterns. The other is the Sitzenfry theory, which believed IVL occurred when uterine leiomyoma invading blood vessels. In addition, there were 3 hypotheses for the pathogenic mechanism of BML. One was that BML derived from uterine myometrium layer. The second theory suggested that BML might be secondary to implantation and proliferation of benign smooth muscle cells, by IVL or mechanical means. The third theory was that BML was a part of systemic leiomyoma, featuring multifocal and independent smooth muscle tissue proliferation.The pathological mechanism of the IVL was not clear, and currently 2 explanations were existing. One is the Knauer theory, which believed IVL originated from vascular wall. Total hysterectomy, bilateral oophorectomy, and resection of all visible tumors should be performed in the operation. According to the range of lesions and patients’ tolerance to surgery, 1-stage and 2-stage operations were in option. The postoperative recurrence rate was high, approximately 30%. Incomplete resection was a high-risk factor for postoperative recurrence. Immunohistochemical stain of IVL lesions showed ER, PR positive, and thus antiestrogen therapy was the primary postoperative therapy. However, currently there were no large-scale cohort reports illustrating the outcome of hormone therapy. Hormone treatment had different effect on patients receiving incomplete resection of tumor in previous literature.–17IVL with inferior vena cava or intracardiac extension could present symptoms relating to heart function insufficiency, including lower extremity edema, palpitation, chest tightness, and so on. Surgery was the principal treatment. Pathological tests helped to make the final diagnosis. BML should be differentiated from metastasis of various malignant tumors. Treatment methods were determined according to symptoms. Tumors without clinical symptoms and without obvious growth could be monitored at follow-up, requiring no immediate treatment, while tumors growing rapidly or suspected malignant needed treatment. In cases with a solitary nodule, curative surgical excision was indicated. But in cases with multiple nodules, most would be left with residual tumors, and postoperative follow-up was important to prevent major complications caused by residual tumor progression. Antiestrogen hormone therapy demonstrated disease control or regression in 79% patients in previous literature.BML was asymptomatic in most cases and was usually discovered by accident. BML showed benign pathological features, with little cell mitosis, and positive for ER and PR. described a case of pathological diagnosed pulmonary benign metastasizing leiomyoma associated with uterine IVL in a 46-year-old woman. Results of comparative genomic hybridization showed lesions in the 2 sites had significantly overlapping complex genomic changes, suggesting that the 2 lesions were closely related to each other. Arif et al reported a case of a 42-year-old patient presenting a left L4 nerve root lesion, a left para-vesical lesion, multiple pulmonary metastases, and an intracava lesion. All those lesions were confirmed histologically to be leiomyoma strongly positive for ER. Matsumoto et al and Koh et al reported another 2 similar cases. Besides, pulmonary nodules were found after IVL diagnosis in 2 patients. Bodner-Adler et al reported a case underwent abdominal hysterectomy because of IVL. Postoperatively, multiple nodules in lungs were detected in the lung scans, and biopsy confirmed the diagnosis of pulmonary BML. Sun et al reported a patient whose multiple pulmonary nodules were found during postoperative IVL follow-up of IVL. The author believed that the pulmonary lesions were BML, although without histological evidence.Multiple pulmonary nodules were found simultaneously with the detection of intravascular lesions in the 2 patients in this report. These nodules, considered as BML, stayed stable in the process. After careful literature review, there were 6 cases of IVL complicated with pulmonary BML in the literature. Among them, IVL lesions and pulmonary nodules were found simultaneously in 4 patients. Lee et al4When IVL patients presented bilateral multiple pulmonary nodules, the possibility of BML should be considered, and excessive treatment due to misdiagnosis as malignant tumor metastasis should be avoided. The incidence of BML in patients with IVL might be relatively high. Metastasis of IVL lesions was a possible source of BML in these cases.


Alpha-fetoprotein (AFP)-producing adenocarcinoma, histologically mimicking hepatocellular carcinoma (HCC), is a distinct entity known as hepatoid adenocarcinoma (HAC). Reported cases of HAC arising from the esophagus are extremely rare. Due to common liver metastasis and elevated AFP levels in patients with esophageal HAC, differentiation of HAC with liver metastasis from HCC could be challenging. We describe a case of esophageal HAC that presented with a liver mass showing hepatoid features and elevated serum AFP levels. Initial presentation was suspicious for HCC. Upon further diagnostic work-up, the patient was diagnosed with esophageal HAC with liver metastasis. The distinction between these two entities is particularly important because HAC is more aggressive, and its therapeutic options are very limited. Alpha-fetoprotein (AFP)-producing adenocarcinoma, mimicking hepatocellular carcinoma (HCC) histology, was first reported in 1970 . Due to An 83-year-old Middle Eastern male with a medical history of meningioma and emphysema was admitted to our institution for evaluation of a liver mass. The mass had been found on an abdominal computed tomography (CT) scan conducted in an outside facility following the incidental finding of abnormal liver tests. A repeat abdominal CT scan revealed a large liver mass with central necrosis and extensive porta hepatis, periceliac and peripancreatic lymphadenopathy (In order to evaluate for other possible sites of metastases, an 18[F]-fluorodeoxyglucose positron emission tomography/CT scan was performed that showed the area of increased metabolic activities in the liver and esophagus (junction B. Subseqjunction C,D. UnfoHAC is a subcategory of AFP-producing adenocarcinomas, which histologically mimic the architecture of HCC . In animA HAC arising from the esophagus is particularly rare. An extensive search of the literature produced only five reported cases in English-language journals and two cases in Japanese-language journals ,6–11. AlDue to the histologic resemblance of HAC and HCC when histology is not typical of HCC and HAC is suspected, a meticulous diagnostic work-up is warranted to locate the origin of this presumably metastatic disease . A pan-eet al., in a report on patients with HAC of different origins, showed that IHC staining of the epithelial markers cytokeratin 18, cytokeratin 19 and glypican-3 was positive in all tumors, and staining for AFP, cytokeratin AE1/AE3 and alfa-1 antitrypsin was positive in more than 90% of cases [IHC studies are also found to be diagnostic. Su of cases . So, in of cases . Expressof cases . The IHCIn conclusion, we have described a case of esophageal AFP-producing HAC that, although rare, stands as an important differential diagnosis of HCC. Where an AFP-producing neoplastic liver lesion with hepatoid features is identified—but without the typical characteristics of HCC on histology—lack of cirrhosis and other risk factors of HCC should raise the possibility of HAC. If metastatic disease is suspected, then extensive diagnostic work-up to identify the primary site is highly recommended. In cases with indeterminate histology, IHC studies might be quite helpful. Differentiation of HCC from HAC with liver metastasis is crucial due to the different clinicopathologic behaviors and therapeutic options for these entities.Amir Kashani: conception and design; data collection; drafting of the article.Jonathan C. Ellis: conception and design; data collection; critical revision of the article for important intellectual content.Melissa Kahn: conception and design; data collection; critical revision of the article for important intellectual content.Laith H. Jamil: conception and design; data collection, critical revision of the article for important intellectual content; final approval of the article.Conflict of interest statement: none declared.


Cecal bascule is a rare subtype of cecal volvulus where the cecum folds anterior to the ascending colon causing intestinal obstruction. It is a challenging diagnosis to make in the emergency department, as the mobile nature of the cecum leads to a great deal of variation in its clinical presentation. Our discussion of a 78-year-old female who presented with abdominal pain and was found to have a cecal bascule requiring right hemicolectomy, demonstrates how emergency physicians must expand their differential diagnosis for patients reporting signs of intestinal obstruction. Though cecal bascule does not present often, the need for early surgical intervention necessitates a high level of clinical suspicion to prevent life-threatening complications. Most cases of large bowel obstruction worldwide are caused by malignancy, with diverticular disease and volvulus causing the small remainder of obstructions.1A review of 561 patients with cecal volvulus demonstrated that this condition commonly presents with symptoms of bowel obstruction – abdominal pain, constipation, nausea and vomiting.1A 78-year-old female with recent placement of a percutaneous endoscopic gastrostomy (PEG) presented to the ED with a chief complaint of abdominal pain over the prior two days. The patient stated that the pain had begun at her PEG-tube site after putting pressure on the area when climbing out of a car the day before. The pain was intermittent and cramping in nature – lasting a few minutes before subsiding and becoming more severe over the previous 24 hours. At the time of presentation, the patient was complaining of some abdominal distension but denied any nausea, vomiting, constipation, or obstipation.On exam, her vital signs were mildly abnormal, but did not demonstrate a patient who was hemodynamically unstable. Her respiratory rate was slightly elevated at 20 breaths per minute, her heart rate was 97 beats per minute, she had a pulse oximeter reading of 94% on room air, and she was afebrile. The patient’s blood pressure was also within the normal range at 115/85 millimeters of mercury. On physical examination, the patient’s abdomen was soft but distended, and diffusely tender to palpation.9/L. Her chest radiography demonstrated elevation of the left hemi-diaphragm and left lower lobe consolidation  of her abdomen and pelvis led to the diagnosis of a cecal bascule, and general surgery was consulted  and 3. TCecal volvulus has been described as a cause of intestinal obstruction since first noted in 1837 by Rokitansky. 5Cecal bascule, caused by the cecum folding anterior to the ascending colon, leads to intestinal obstruction. 4What do we already know about this clinical entity?Cecal bascule is a rare type of bowel obstruction that requires early surgical intervention to prevent life-threatening complications.What makes this presentation of disease reportable?Our case demonstrates how a cecal bascule could potentially present in the ED and the necessary work-up required to make this important diagnosis.What is the major learning point?With its varied presentations and intermittent symptoms, a cecal bascule is a difficult diagnosis that requires a high level of clinical suspicion.How might this improve emergency medicine practice?By understanding the unique clinical presentation of a cecal bascule, emergency physicians will be more apt to make the diagnosis and intervene accordingly.Cecal volvulus most commonly occurs in young women during the postpartum period when the cecum is displaced upward by the uterus, or in elderly hospitalized patients secondary to reduced intestinal mobility. 6Even though there is no torsion of the mesentery in a cecal bascule, cecal distension can still cause venous and capillary constriction leading to ischemic changes that can progress to gangrene.10Cecal bascule is a difficult condition to diagnose; thus, a high index of clinical suspicion must be maintained. Clinical manifestations include nausea, vomiting and continuous abdominal pain with exacerbation of pain during peristaltic movement. 11Laboratory results are neither sensitive nor specific, but practitioners typically find a leukocytosis and potentially hyperkalemia, azotemia or anemia in more severe cases.Abdominal radiography may illustrate air-fluid levels with dilation of small-bowel loops and a predominate distension of the cecum that is displaced anteromedial to the transverse colon.6Diagnostic colonoscopy is not recommended as it may increase the risk of perforation.6The purpose of this case report is to remind emergency physicians to expand their differential diagnosis to include the less-common causes of abdominal pain, such as cecal bascule, especially in postpartum women and the elderly. Cecal bascule is a rare cause of intestinal obstruction and is a uniquely challenging diagnosis due to the intermittent nature of its presentation. The periodic cephalad folding of the cecum allows variation in clinical signs and imaging findings depending on the positioning of the cecum at that specific point in time. Therefore, this diagnosis must remain on the differential of any patient reporting signs of intestinal obstruction even if not clinically evident at that moment.Cecal bascule is a rare cause of bowel obstruction where there is anterior displacement of the cecum over the ascending colon. Making this diagnosis is especially difficult due to the relatively non-specific constellation of symptoms that may or may not include distension, abdominal pain, tenderness to palpation, nausea, vomiting, hyperperistalsis and absent bowel sounds. A high level of clinical suspicion and early surgical intervention are essential in preventing the devastating complications of bowel ischemia and gangrene.Documented patient informed consent and/or Institutional Review Board approval has been obtained and filed for publication of this case report.


We present two cases of esophageal papillomatosis, a very rare reported disease leading to dysphagia and did not improve after endoscopic treatment. Both patients refused surgery and they were followed-up for 3 years, but no significant clinical or endoscopic changes were seen. These tumors have singular presentation of wart-like exophytic appearance. Esophageal papillomatosis, on the other hand, has been rarely found, and few cases have been reported so far.,3,4 We present two cases in which both patients refused surgery, and they have been followed with periodical endoscopies.Esophageal papilloma is a benign esophageal tumor, with an estimated prevalence of up to 0.45%,A 74-year-old woman complained about recurrent dysphagia for solid foods, which relieved with liquids consumption, for the last 6 months. Her past medical history was positive for mild arterial blood hypertension, without any other relevant comorbidity. She admitted to be a social drinker and smoker. The patient had lost weight, about 3kg, within the first 4 months after symptoms onset, but since then her weight has been stable. A first upper endoscopy (in February 2014) revealed an extensive papillary lesion (approximately 7 to 8cm) occupying the medium third of the esophagus . IntroduA 73-year-old woman with history of dysphagia, and mild diabetes controlled with drugs and diet. The patient was also referred to endoscopy. She reported social drinking, and denied smoking. At the procedure a long papillary esophageal lesion, with about 10 to 11cm in length was noted in the middle portion of the esophagus, proximally involving part of the circumference, but progressing to involve the whole circumference . The dis,5 however, this association is so far considered controversial. Esophageal papillomas are easily recognized lesion, and endoscopically removed without difficulty using different accessories (biopsy forceps or snares) regardless of the size of the lesion. Recurrence may also occur. Malignant potential has been suspected.,6Esophageal papilloma is believed to be associated to human papillomaviruses or to chronic mucosal irritation, associated with adenocarcinoma. Papillomatosis etiology is not defined and multiple factors have been associated with the disease, such as human papillomaviruses, gastroesophageal reflux, endoscopic esophageal therapies . Except for the papillomaviruses that was not evaluated in our two patients, other factors were absent, except smoking that is also considered a contributing factor, which is little described in the literature.Esophageal papillomatosis was first described in 1995Although the main recommendation is the removal of all papilloma lesions, in our two cases, because of the extension of several centimeter involving the whole esophageal circumference, this option was considered impossible. Total esophagectomy was proposed to both patients, who were alerted to the risk of carcinoma development. Both patients chose to continue under strict endoscopic surveillance, so far about 3 years, but no changes have been seen in clinical, endoscopic and histological findings. In order to optimize neoplasia recognition, narrow-band imaging has been applied in every endoscopy to look for abnormal vascular patterns. Recently, both patients underwent a thoracic computed tomography and no signs were found of involvement outside the esophagus. Lymph nodes were absent.A discussion was carried out about performing endoscopic ultrasound, but because of the difficult for passing the regular gastroscope, including some mucosal laceration, we avoided to pass an echo endoscope.


Wormian bones are a relatively rare skeletal anomaly that present as accessory bone(s) within the sutures of the cranium and even more rarely within the fontanelles. It is believed that they arise from the formation of abnormal cranial ossification centers. Although not extensively reported in the literature, this anomaly is thought to be associated with other anatomical anomalies such as osteogenesis imperfecta, rickets, and other bone dysplasias. When located within the fontanelles, the most likely site of occurrence is the posterior fontanelle. This case report describes a rare incidence of wormian bone within the anterior fontanelle of an infant who had concurrent craniosynostosis. More research and reporting of this anomaly is necessary to verify any correlated syndromes, and determine the underlying etiology. Wormian bones occur as small, accessory bones within the cranial sutures and fontanelles. The skull itself is composed of several flat bones that fuse together after birth. These sites of fusion are the bony sutures in which wormians most commonly occur -2. HistoClinically, some pathological and diagnostic value has been attributed to wormian bones. One recent study suggested that their presence within the pediatric population could clarify the origins of unexplained bone fractures, helping to distinguish between conditions associated with wormian bones such as osteogenesis imperfecta and other causes such as physical abuse . Their pWormian bones are relatively rare within fontanelles, the incidence being greater in the posterior than the anterior fontanelle . The antA six-month-old male presented with small head circumference (<25th percentile) and hypotelorism. No other health related issues were identified in this child with a normal gestation and the second baby to this family who was non-consanguineous. On exam, the patient was noted to have the previously identified mild hypotelorism. In addition, ridges were palpated along the left and right coronal sutures. A metopic suture was also palpated on examination. The sagittal suture had not closed. Anteriorly, the anterior fontanelle was open and not tense. However, a bony island was palpated in the center of the anterior fontanelle. Imaging confirmed the bilateral coronal synostosis, metopic suture, open sagittal suture, and wormian bone of the anterior fontanelle Figure .The child’s further physical examination was within normal limits. Follow-up visits and examinations did not reveal any issues with development or fulfillment of appropriate milestones. The infant displayed no signs of cognitive delay or abnormalities of physical development. The child did not meet the requirement for any diagnosable or recognized developmental syndrome. At seven months old, the patient underwent operative release of the left and right coronal sutures. At operation, the floating bone (wormian bone) within the anterior fontanelle was noted and removed without consequences although it was firmly attached to the underlying dura mater and superior sagittal sinus. At one-year followup, the patient is doing well with no new complaints from the parents and is developmentally normal. As mentioned above, wormian bone deformities within the anterior fontanelle are relatively rare since wormian bones are more common within the cranial sutures. A recent review found that abnormal ossifications within the anterior fontanelle are more likely in association with concurrent craniosynostosis, sagittal synostosis being the most commonly implicated site . It has The relative rarity of wormian bones within the anterior fontanelle makes it difficult to establish any specific association between this occurrence and other syndromes. A recently published case report suggested a novel association between wormian bones involving the anterior fontanelle and severe facial dysmorphisms and midline abdominal defects . Reid anWormian bones of the anterior fontanelle are rare. As seen in our case, they can be associated with craniosynostosis. At operation, surgeons should be aware that such an anomalous bone can be firmly attached to the underlying superior sagittal suture via its dural connections. A review of the available literature shows that there is a scarcity of presently available case reports of this anomaly, and varying reports of their frequency and etiology. More reporting of the anomaly would clarify the uncertainty surrounding this anomaly. Even more rare are reports of wormian bones being found within fontanelles as opposed to within suture lines. It is possible that a varying etiology exists for these different locations, and they may also have distinct associations with other clinical syndromes and anatomical anomalies. It is recommended that a more comprehensive review of the subject contrast individual case reports to better decipher the etiology of this deformity.


Acute acalculous cholecystitis is an uncommon disease in children and is usually associated with trauma, burns, and infections. Whereas acute acalculous cholecystitis is only seen in 10% of cholecystitis in adults, it is uncommon in the paediatric population.A seven-year-old male presented to the emergency department of a regional hospital with a 36-hour history of right-upper-quadrant abdominal pain. He had associated symptoms of anorexia, nausea, and vomiting. He was septic with raised white cell count and inflammatory markers. Diffuse gallbladder wall thickening without intraluminal sludge or calculi was seen on abdominal ultrasound. He was found to have a concurrent right-upper lobe pneumonia on further investigation. The patient was treated with antibiotics and responded well to supportive and conservative management with close radiological monitoring.Acute acalculous cholecystitis is associated with a high mortality rate (30%) and significant complications such as gangrene, empyema, and perforation in 40% of adult cases. Acute surgical management has been traditionally advocated, however, surgery is not without risks; studies have suggested that non-operative intervention may be appropriate for selected critically ill children with an underlying cause.Herein, we discuss the safe and effective conservative treatment of acute acalculous cholecystitis in lieu of operative management and highlight the importance of recognising this disease in paediatric patients with acute abdominal pain and coexisting infection. Calculous cholecystitis is a rare disease in children, with 1.3 paediatric cases for every 1000 adult cases . This coA seven-year-old, Caucasian boy was bought into the Emergency Department with 36-hour history of right-sided abdominal pain associated with nausea, anorexia, and vomiting. He reported no coryzal symptoms or changes in bowel motions and medical history was unremarkable. He had no perinatal or developmental issues and all immunisations were up to date.On examination, the child looked well, was warm and well perfused. He was not tachypnoeic and was saturating at 98% on room air. He was febrile to 39 degrees on arrival, with a heart rate of 130. Chest sounds were equal and bilaterally vesicular and abdomen was soft but distended. He had generalised tenderness, worst in the right upper and lower quadrants. Bowel sounds were present and external genitalia were unremarkable.A urine microscopy was unremarkable. Initial blood showed a haemoglobin of 109 g/L, white cell count of 15.5 x 10^9/L, platelets of 203 x 10^9/L and C reactive protein of 301 mg/L. His albumin was 25 g/L (range 32-47), total bilirubin was 20 umol/L (range <20) and conjugated bilirubin was 6 umol/L (range <4). His electrolytes, other liver function tests (LFTs) and lipase were unremarkable. An abdominal ultrasound showed a mildly enlarged, heterogenous liver with no focal abnormality. Diffuse gallbladder wall thickening up to 4.6 mm with pericholecystic collection was identified - no intraluminal sludge or calculi seen  is associated with a high mortality 30%), with complications of gangrene, empyema, and perforation occurring in 40% of adult cases ,3. Hence0%, with Diagnosis is complicated by these other underlying diseases, and hence is often delayed. The exact cause remains unclear. Ultrasonography is the diagnostic imaging procedure of choice, as it is portable, noninvasive, relatively inexpensive, and bears no radiation risk to the paediatric patient .Therapeutic options advocated for AAC include cholecystectomy or cholecystostomy ; traditiOther studies showed management with appropriate antibiotics and supportive therapy to be adequate. Thambidorai et al. studied the outcomes of nonsurgical management of AAC in a series of 14 cases associated with enteric fever . All patIn conclusion, AAC needs to be considered as a differential in all children who present with acute abdominal pain, particularly in the setting of other infective illness, trauma or surgery. Conservative, supportive management and treatment of the underlying condition may be safe and effective in lieu of operative management.


Congenital prepubic sinus (CPS) is a rare anomaly characterized by a sinus tract extending from the prepubic area to the anterior bladder wall. Herein, we present a further case of CPS.A 20-month-old boy was admitted to our hospital with a 3-month history of recurrent mucopurulent discharge from a pinpoint opening located over the prepubic area . He had As the number of reported cases of CPS has steadily increased, its embryology is still unclear. The condition was first described as a variant of dorsal duplication of the urethra . The preCPS is usually asymptomatic in neonates, and a diagnosis is often made late after extrusion of pus from the sinus as in our patient. The diagnosis is confirmed by detection of the sinus tract extending from the sinus opening toward the anterior bladder wall by USG, fistulography or MRI. Retrograde urethrography and cystography are other diagnostic methods that are used to verify any communication between the sinus and urinary system. On the other hand, the present case and previously reported cases demonstrated that the sinus never communicates with the urinary system. In this respect, we can speculate that retrograde urethrography and cystography are non-essential diagnostic procedures for CPS.In conclusion, CPS is a rare anomaly with variable presentation. The presentation is often late with minor complications. Complete excision of the fistula is curative, and successful surgical management of CPS requires accurate preoperative assessment of the course of the fistula track.


Acute calcific tendinitis (ACT) of the longus colli muscle is a rare cause of debilitating neck pain. The ACT is presumed to be an aseptic inflammatory process of the superior oblique tendons of the longus colli muscle. It is often confused with other more concerning conditions including trauma, epidural abscess, disc herniation, and neoplasm. We present two cases of ACT and a brief literature review to stress the risk of misdiagnosis. A 38-year-old male presented with neck pain and stiffness accompanied by dysphagia. Computed tomography (CT) scan was done and the diagnosis was secured by demonstrating calcifications at the C1-C2 level as well as the retropharyngeal effusion. A 53-year-old female was also complaining of neck pain and dysphagia. The CT scan demonstrated similar findings and the diagnosis was again clinched. Awareness of this unusual entity is essential to prevent unnecessary interventions. Acute calcific tendinitis (ACT) is also otherwise known as retropharyngeal tendinitis or acute calcific prevertebral tendinitis. It is a self-limiting inflammatory condition presumably caused by calcium hydroxyapatite deposition in the longus colli tendon. The ACT was first described by Hartley, et al. in 1964 with calcium deposition just anterior to the cervical spine C1-C2) [ [2]. We Case one A 38-year-old male presenting with excruciating posterior left sided neck pain for four days, dysphagia and neck stiffness. The emergency department staff was initially concerned for abscess of the deep spaces of the neck. The CT scan of the neck with contrast was done and it revealed a prevertebral retropharyngeal low attenuation collection spanning from C1 to C5 Figure . There wCase twoA 53-year-old female presenting with neck pain and dysphagia for five days. The patient had normal lateral neck radiograph from 2007 Figure . The CT The acute calcific tendinitis (ACT) was first described by Hartley, et al.  in 1964.Our first patient was a 38-year-old male who presented with neck pain, dysphagia, and neck stiffness. The CT scan of the neck demonstrated the typical findings of non-enhancing retropharyngeal effusion and calcifications anterior to C1 and C2. The MRI of the neck was done as well and it demonstrated the non-enhancing retropharyngeal effusion. The patient’s symptoms resolved with NSAIDs, and he was discharged after a brief hospital admission. Our second patient was a 53-year-old female who presented with neck pain and dysphagia. The CT scan of the neck again demonstrated calcifications at C1 and C2 level and prevertebral effusion. The exact incidence of ACT is unknown, which is probably because the entity is commonly missed . The ACTThe ACT is a rare benign cause of severe neck pain. The ACT is an underreported condition in the literature, clinicians, as well as radiologists, should be more aware of its existence. There are characteristic imaging findings of this entity. The CT scan of the neck is the imaging modality of choice. Our two patients had typical imaging findings of the ACT. Awareness of this unusual entity is essential to avoid unnecessary medical and surgical interventions.


Urachal pathologies are rare and can mimic numerous abdominal and pelvic diseases. Differential diagnosis of urachal anomalies can be narrowed down by proper assessment of lesion location, morphology, imaging findings, patient demographics, and clinical history. We report a case of a 60-year-old male, with a history of unintentional weight loss without associated symptoms, who was diagnosed with locally invasive urachal adenocarcinoma. With this article, we pretend to emphasize urachal adenocarcinoma clinical features along with its key imaging findings with radiologic-pathologic correlation.  Urachal cancer (UrC) is an uncommon neoplasm, representing 0.5–2% of all bladder cancer. Although transitional epithelium usually lines the urachus, most urachal tumors are adenocarcinomas (90%) and represent 20%–40% of all primary bladder adenocarcinomas . Despite9  and CRP 9.1 .We describe the case of a 60-year-old male who presented with a four-month history of 15 kg unintentional weight loss, without associated gastrointestinal or urogenital symptoms. On physical examination a visible, nontender, and nonmobile infraumbilical mass was noted. The patient denied significant past medical or family history. Blood work showed mildly elevated white cell count 14.4 × 10An abdominal ultrasound was performed to determine the mass origin. It revealed a midline mass with a central gas-filled cavity contacting the superior bladder wall and extending to the anterior abdominal wall .Additional evaluation with contrast-enhanced abdominopelvic computed tomography (CT) confirmed the presence of a median infraumbilical large intra-abdominal mass, measuring 13 × 8 × 14 cm. Inferiorly it contacted the bladder dome, and anteriorly there was infiltration of the entire thickness of the anterior abdominal wall, invading the umbilicus .Posteriorly there was no fat interface between the tumor and the transverse colon. Two fistulous tracts were perceived, connecting the mass with this bowel segment. The remaining study was unremarkable, with no sign of distant metastasis.The morphology of the mass, as well as it aggressive behavior, with abdominal wall, colon, and bladder invasion, suggested a neoplastic lesion. Its location favored a urachal carcinoma as the main diagnosis. Differential diagnosis included a colon carcinoma with abdominal wall and bladder extension, a sarcoma, and an infected urachal remnant.A colonoscopic study was requested, but it was not completed due to fixation of a colonic loop at 30 cm. After the procedure, discharge of fecal material through skin fistula was noted.Urgent laparotomy was performed, with total resection of the tumor, with an en bloc resection of the anterior abdominal wall, transverse colon, and superior bladder wall. A temporary colostomy was performed.Specimen's pathology revealed a poorly differentiated adenocarcinoma with signet ring cell component and mucinous features. It infiltrated the skin, as well as the colonic and bladder walls, with mucosa ulceration .Immunohistochemical positivity for 34-beta-E12 and beta-catenin (membrane) was seen , along wThis morphological and immunohistochemical features favored the diagnosis of a urachal adenocarcinoma .The postoperative period was complicated with surgical wound infection, and the patient was discharged from hospital after 25 days, with wound care instructions and primary care physician referral.The urachus is an embryological remnant that originates from the involution of the allantois and cloaca, extending from the umbilicus to the bladder dome. During the gestational development, it involutes and becomes the median umbilical ligament, with obliteration of its lumen. Most of the urachus pathologies are found incidentally, and, with the increasing use of cross-sectional imaging, they have become more frequently diagnosed .UrC accounts for 0.01% of all cancers in adults , 5.Symptoms do not usually accompany early UrC, which causes patients to present at advanced stages, with local invasion or distant metastases. The most frequently reported symptom is hematuria, followed by abdominal pain, dysuria, and mucosuria . Less frCystoscopy remains one of the most valuable diagnostic tools for UrC management. It allows a direct visualization of the tumor and it can also determine if the lesion is covered with normal mucosa, as seen in early stages, or if it is a broad-based ulcerated mass .Imaging plays also an invaluable role at UrC workup. On Ultrasound (US), it is commonly recognized as a midline soft tissue mass or a fluid-filled cavity with mixed echogenicity and calcifications. CT scan is often used for local staging and evaluation of distant metastasis. It is usually depicted as a midline mass, superior to the bladder dome and adjacent to the abdominal wall. In the majority of cases, the tumor is mixed solid and cystic, the latter representing its mucin composition. Peripheral calcifications are often seen and are considered pathognomonic for urachal adenocarcinoma. On MRI, focal areas of high signal in T2 indicate the presence of mucinous component. CT and MRI are useful in demonstrating intra- or extravesical extension of the tumor.The diagnosis of a UrC in biopsy and transurethral resection specimens remains a challenge. The criteria for pathologic diagnosis include the following: (1) location of the tumor in the dome/anterior wall; (2) epicenter of carcinoma in the bladder wall; (3) absence of widespread atypical intestinal metaplasia and cystitis/glandularis beyond the dome/anterior wall; (4) absence of urothelial neoplasia in the bladder; (5) absence of a known primary tumor elsewhere , 7.The most frequent histologic subtype is adenocarcinoma with enteric features with or without mucin production. Some have a signet ring component, as seen in our case, and others have the morphology of colloid carcinomas .β-catenin and CK7 are the most important in establishing the distinction of urachal from colorectal adenocarcinoma. Diffuse nuclear b-catenin and CK7 help to differentiate urachal adenocarcinoma of enteric subtype , as seen in our case, from colonic adenocarcinoma  [Among the used immunomarkers, , CK7 −) .The main differential diagnosis includes benign urachal tumors, nonurachal carcinomas of the bladder, and metastasis from different organs . Infection of a urachal anomaly can also mimic a UrC, and the diagnosis is often challenging at imaging. In our case, the presence of a midline cavity, anterosuperior to the bladder dome, filled with low attenuation fluid, suggested adenocarcinoma of the urachus as the main diagnosis.Although several staging systems have been proposed for UrC (Sheldon et al. , Ashley Currently, surgery is the treatment of choice for UrC. The most significant predictor of prognosis is surgical margin status. Because UrC can present with metachronous or synchronous tumors along the urachal tract, the standard surgical approach includes excision of the urachus, umbilicus, and partial/radical cystectomy, combined with pelvic lymphadenectomy , 8, 11.The effective role of adjuvant or neoadjuvant chemotherapy for UrC is not yet established , 12. The


Epidermolysis bullosa is a rare inherited muco-cutaneous disorder that sometimes presents with genitourinary involvement. Herein we report the case of an 11-year-old girl with a history of junctional epidermolysis bullosa who was admitted with urological symptoms. On cystoscopy, suspected bullous bladder lesions were observed. Mesonephroid, intestinal and squamous metaplasia is reported here for the first time. Epidermolysis bullosa (EB) is a rare heterogeneous dermatological disorder. In spite of the increasing rates of recent publications of patients presenting with urological complications EB has rarely been reported in the literature .We were unable to find any reports of accompanying mesonephroid, intestinal or squamous metaplasia of the bladder in junctional EB in the English literature. Here we report the first case of an 11-year-old girl with the diagnosis of junctional EB with accompanying mesonephroid, intestinal and squamous metaplasia in the bladder.An 11-year-old female patient, who was first diagnosed with junctional EB at 18 months of age, was admitted to our institution with hematuria and irritative voiding symptoms. She was under the care of dermatology clinic. Her physical examination revealed that her skin lesions were in remission. Her skin biyopsy image is shown in Histopathological examination reported mesonephroid, intestinal and squamous metaplasia in the bladder, as shown in Epidermolysis Bullosa is a rare and severe disorder characterized by blistering lesions of the skin after trauma. There are four major type of inherited epidermolysis bullosa: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. The level of separation occurs within the epidermis in Epidermolysis bullosa simplex (EBS), in the lamina lucida in junctional EB (JEB) and under the lamina densa in dystrophic EB (DEB). The cleavage plane in Kindler Syndrome (KS) can occur within the basal keratinocytes, at the level of the lamina lucida or below the lamina densa . KindlerOur patient, who had JEB  was diagnosed based on the clinical and histopathological (with immunofluorescence) findings. After the first year of life, her non-inflammatory blistering skin lesions in areas of the body exposed to mechanical trauma went into remission for several years. However, many years later she was admitted to our clinic with dysuria and hematuria. After examination, distal urethral stenosis and a thickened bladder wall were detected by ultrasound. The clinical spectrum in the literature varies from meatal stenosis leading to upper urinary tract dilatation to serious stenosis due to bullous lesions and scarring at the ureterovesical junction requiring permanent urinary diversion . In our Mesonephroid metaplasia is an unusual lesion confined to the lamina propria of the lower urinary tract. It is defined by a characteristic histologic picture of tubular structures, formed by a single layer of cuboidal cells, surrounded by a thick basement membrane. In large published series of cases of mesonephroid metaplasia, the lesions were in most cases associated with chronic infection, stone disease or repeat surgical intervention in the genitourinary tract. Characteristically, the epithelial cells of nephrogenic adenomas show clear cell cytoplasm with vacuoles and uniform nuclei without mitoses in the benign form. The malignant form is characterized by mitotic figures and/or invasions into the muscle .Intestinal metaplasia usually occurs with long standing inflammation/irritation, such as from indwelling catheters, calculi, neurogenic bladder and bladder exstrophy and it may be focal or diffuse, but it is usually only seen microscopically. Intestinal metaplasia often co-exists with adenocarcinoma of the bladder, and some authors have proposed that intestinal metaplasia may be a precursor lesion .Squamous metaplasia is clinically significant and may be associated with the development of bladder cancer, bladder contracture or obstructive uropathy. According to different studies, the risk of developing squamous cell carcinoma in patients with keratinizing squamous metaplasia is estimated to be 21 to 42% .In our case there was a predisposing factor, namely chronic blistering. In our opinion mesonephroid, intestinal and squamous metaplasia were the result of inflammation in the lamina lucida in junctional EB. In addition to JEB, urological complications have also been reported such as recessive DEB, Kindler Syndrome and EBS with muscular dystrophy .Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct whenever possible the extracutaneous complications. Prognosis varies considerably and is based on both EB sub-type and the overall health of the patient . It is a


Ganglioneuromas (GNs) are benign tumors resulting from neural crest tissue. GNs contain mature ganglion cells and Schwann cells. GNs most commonly occur in the retroperitoneum and posterior mediastinum. GNs rarely occur in the adrenal gland. A 45-year-old asymptomatic patient presented with an incidental finding of left renal mass. A 10 cm mass lesion located in the upper pole of the left kidney and lymphadenopathy in renal hilus were detected. The patient underwent transperitoneal radical nephrectomy involving the removal of left adrenal gland. The immunohistochemical examination showed strong positive staining for S100, neuron-specific enolase, synaptophysin and chromogranin. The diagnosis of mature GN was established. GNs are among the rare diseases that should be considered in the evaluation of renal masses, particularly in the differential diagnosis of upper pole tumors of the kidneys. It can be confused with renal cell carcinomas. Adrenal GNs arise from the neuroblasts in the adrenal medulla. GNs account for 0-6% of the tumors occurring in the adrenal medulla [Ganglioneuromas (GNs) are rare benign tumors, which may mature from neuroblastomas or may arise  medulla . These t medulla , 3.3/µL and Hgb 13.7 g/dL. USG and CT showed a 100 × 71 × 66 mm heterogeneous solid mass located in the upper pole of the left kidney and lymphadenopathy in the renal hilus, and the patient subsequently underwent transabdominal radical nephrectomy including ipsilateral adrenal gland with the prediagnosis of renal cell cancer (RCC). The diagnosis of mature adrenal GN was established, and the tumor was hormonally inactive.A 45-year-old female patient presented with a left renal mass detected as an incidental finding. The patient was asymptomatic. The results of biochemical tests were as follows: glucose 95 mg/dL, creatinine 0.9 mg/dL, urea 28 mg/dL; AST, ALT, ALP and GGT were within normal ranges; WBC 5.41 × 10Macroscopic examination of the radical nephrectomy material measuring 18 × 7 × 5 cm showed a solid, gray-white colored tumor measuring 10 × 7 × 3 cm, located in the upper pole of the kidney but without any direct relation to the kidney. Focal adrenal tissue was observed in the cross-section of the tumor. The kidney and surgical margins were tumor-free. Three lymph nodes measuring 1 cm in diameter were detected in the renal hilus. The microscopic examination revealed mature ganglion cells in Schwannian stroma. The immunohistochemical examination showed strong positive staining for S100, neuron-specific enolase, synaptophysin and chromogranin. These three lymph nodes are considered to be reactive lymph nodes -3.The patient did not develop a secondary focus or local recurrence at 96 months after surgery involving left transperitoneal radical nephrectomy plus adrenalectomy.de novo” or they mature from a neuroblastoma. The tumor most commonly occurs in the retroperitoneal area (41.5%) and posterior mediastinum (37.5%), but may also occur in the adrenal tissue (21%) [GNs are benign tumors that derived from the neural crest, and they may arise “eal area 1.5% and ue (21%) . The incastinum 3.5%, but According to the international neuroblastoma pathology classification (the Shimada system), GNs are Schawannian stroma-dominant tumors. The tumor is divided into two subtypes: mature and immature. However, full maturation of the ganglion cells is a rare condition. Of all GNs, 7% is of the mature subtype . The preThirty-nine percent of the GNs secrete catecholamines . ElevateThe widespread use of imaging methods such as US, CT and MRI has increased the incidence of GN . AdrenalGNs have no specific signs or symptoms, and this complicates establishing a diagnosis before pathological examination can take place. CT and MRI are important methods that determine the size, location and composition of the mass and the surgical plan. Identification of the relation with the neighboring tissue helps the selection of an appropriate surgical method. CT may show calcification; however, only 60% of GNs show calcification. MRI is superior to CT in diagnosing GN. However, no single radiological finding has ultimate power to differentiate RCC from an adrenal mass . In the Adrenal GNs are benign tumors that may occur almost in all age groups. There is no specific CT or MRI finding leading to the diagnosis. The tumor can be hormonally active but can also be totally inactive. The diagnosis of GN should be considered in asymptomatic retroperitoneal masses reaching large sizes. The tumor can be confused with other mass lesions of the adrenal glands and also with renal masses. The treatment involves surgical excision. The diagnosis can only be established by immunohistopathological examination.


While the combination of a pelvic mass, very high serum level of CA-125, chest adenopathy, and ascites is concerning for advanced-stage ovarian cancer, the etiology of such a presentation can be due to disseminated pelvic tuberculosis. Mycobacterium tuberculosis. The patient was diagnosed with disseminated pelvic tuberculosis and multidrug therapy was initiated. A 67-year-old para 2 African-American woman presented with abdominal pain and shortness of breath. Subsequent CT and MR imaging demonstrated chest adenopathy, a pelvic mass, omental caking, and ascites. The patient underwent diagnostic laparoscopy with biopsy revealing noncaseating granulomas and subsequent tissue culture revealed Pelvic tuberculosis can mimic advanced-stage ovarian cancer; thus obtaining a tissue sample may be beneficial to more appropriately direct treatment and planning for neoadjuvant therapies given the ineffectiveness of extensive surgical procedures in treating pelvic tuberculosis commonly employed in the treatment of advanced-stage ovarian cancer. A 67-year-old para 2 African-American female presented to her primary provider complaining of abdominal pain and distention for 2 weeks, a 10 lb weight loss, and shortness of breath. Past medical history was significant for well-controlled hypertension. Past surgical history included an abdominal myomectomy and two cesarean deliveries. Outpatient abdominal sonogram showed a 1.3 × 1.8 × 2 cm pancreatic head mass with multiple hypoechoic lesions throughout the pancreas, the largest measuring 3.2 cm. Tumor markers were sent and resulted in CEA < 0.5 ng/mL, CA 19-9: 19 U/mL, CA-125: 434 U/mL. Further imaging was ordered including CT scan with contrast which revealed an 8 × 8 × 7 cm pelvic mass, ascites, peritoneal nodularity, and lymphadenopathy. The patient was referred to the emergency department (ED) for drainage of the ascites, additional imaging, and biopsy. In the ED, a CT of the chest showed left cervical, superior mediastinal, left paratracheal, epicardial, and perihepatic lymphadenopathy with a moderate right-sided pleural effusion. A MRI revealed a 12 × 7.5 × 7.8 cm uterus with 2.4 × 2.3 cm right ovarian mass, peritoneal nodules, dense omental carcinomatosis extending into the anterior pelvis, and para-aortic paracaval adenopathy extending from renal hilum to the aortic bifurcation with no visible pelvic adenopathy. This patient was referred to the institution's division of gynecologic oncology where an omental mass biopsy was ultimately performed demonstrating noncaseating granulomas with no tumor identified. The ascitic fluid was negative for malignancy. Mycobacterium tuberculosis with final confirmation six (6) months after. The patient was subsequently diagnosed with disseminated pelvic tuberculosis (TB) and referred to the division of infectious diseases for combination therapy.The patient was discharged and referred to our division of gynecologic oncology for a second opinion with a suspicion of advanced-stage ovarian cancer. After obtaining a detailed history, decision was made to perform a diagnostic laparoscopy and obtain tissue samples prior to planned surgical treatment. The patient underwent diagnostic laparoscopy and tissue sampling. Diffuse disease representing presumed carcinomatosis was encountered . SubsequPelvic tuberculosis is a rare and often difficult disease to diagnose which can present with features that are indistinguishable from ovarian malignancy such as abdominal pain, ascites, and pelvic mass. Due to the rare and deadly nature of ovarian cancer, most women with this presentation are frequently presumed to have advanced-stage ovarian cancer; therefore peritoneal and/or mass tissue acquisition for pathological study is pertinent for confirmation. M. tuberculosis and culture for acid fast bacilli have been used but are not very sensitive and specific in diagnosis [Difficulties arise when attempting to preoperatively differentiate between ovarian cancer and TB. The initial evaluation of a patient thought to have pelvic tuberculosis should include a detailed history, including family history of pulmonary tuberculosis, physical examination, Purified Protein Derivative (PPD), and chest X-ray (CXR) if the skin test is positive or if there is a history of Bacille Calmette Guerin (BCG) vaccination. Characteristics of pelvic tuberculosis commonly found on pelvic ultrasound include adnexal mass, tubal disease, ascites, peritoneal thickening, and omental and/or cul-de-sac nodularity . A Mantoiagnosis . CA-125,iagnosis , 4. Howeiagnosis , 4.The treatment of peritoneal TB and that of ovarian carcinoma differ markedly, necessitating an accurate diagnosis. Diagnostic laparoscopy is currently the principle modality of diagnosing genital tuberculosis because many of the common findings can be seen during the procedure. The most common macroscopic finding is pelvic adhesions, followed by tubal pathology or occlusion, peritoneal, fallopian tube, or ovarian tubercles, perihepatic adhesions, tubo-ovarian mass, ascites, and caseous or granulomatous nodules . SometimDue to technical difficulties of techniques to obtain ascitic fluid for preoperative analysis, diagnostic laparoscopy is the gold standard . LaparosLaparoscopy and hysteroscopy have been used to detect pelvic and abdominopelvic TB. Genital tuberculosis is often found in the fallopian tubes first and most frequently followed by the endometrium, ovaries, cervix, vagina, and vulva .During the reproductive period, caseation is rare in tuberculous endometritis . HoweverPelvic TB may rarely be directly transmitted sexually with the majority of cases resulting from reactivation of latent TB foci in the peritoneum or from lymphatic or hematogenous spread of primary pulmonic infection; however primary focus in the lungs usually heals completely without any clinic or radiologic evidence making it more difficult to discern between ovarian carcinoma and TB .Knowledge of the clinical and radiologic presentations is paramount for early detection and diagnosis. In the reported case, the patient's vague clinical signs and the combination of radiologic findings of adnexal mass, chest adenopathy, omental caking, and ascites led us to suspect metastatic ovarian carcinoma, but histological findings and culture allowed us to diagnose disseminated pelvic tuberculosis correctly.The possibility of pelvic TB should be considered in the differential diagnosis of ovarian carcinoma, especially in women who may have been exposed to tuberculosis. Cytologic examination and culture of ascitic fluid obtained by paracentesis may yield a diagnosis; however if ascitic fluid cannot be obtained, or the cytologic examination and culture result are inconclusive, diagnostic laparoscopic biopsy is needed for confirmation. If laparoscopy is impossible, exploratory laparotomy is performed with biopsies taken from intraoperative frozen section examination and samples are sent for culture and PCR testing. If no carcinoma is detected and the diagnosis of peritoneal TB is confirmed, extended surgery is avoided and anti-TB treatment is started. Thus it is imperative that gynecologists and gynecologic oncologists are adept at recognizing pelvic TB to initiate prompt and appropriate treatment.


Osteoid osteoma (OO) is a common benign bone tumour that is rarely found in the talus. Its nidus is difficult to detect on early imaging. The atypical symptoms of OO and the presence of concurrent trauma or sports injuries may lead to misdiagnosis and delayed treatment. We herein analyse a case of misdiagnosis of OO of the talus and discuss how to improve the early diagnosis of this rare lesion, thereby permitting rapid treatment.A 23-year-old man with a history of left ankle sprains and chronic pain was diagnosed with another ankle sprain and managed conservatively based on normal X-ray findings. After 1 year of recurring pain, he was diagnosed with ankle traumatic arthritis and underwent arthroscopic surgery. His preoperative ankle X-ray findings were still normal, and magnetic resonance imaging at that time demonstrated bone marrow oedema of the left talus. His symptoms reappeared shortly after surgery and progressively worsened. Magnetic resonance imaging performed 3 months after surgery demonstrated widespread bone marrow oedema of the talus. The patient presented to our hospital for pain assessment and was diagnosed with OO of the talus 3 years after his symptoms began. Preoperative computed tomography (CT) demonstrated a typical nidus of OO of the talus. After a second surgery, the patient’s symptoms completely resolved, and pathologic examination confirmed that the lesion was OO. The patient recovered 3 months later and was able to walk normally.OO of the ankle joint exhibits a progressive course and is difficult to diagnose at an early stage. Patients with OO of the talus often have atypical imaging findings, no signs of ankle instability, and no anterior talofibular ligament tenderness. CT is valuable for diagnosing OO, although multiple CT scans may be required to detect the nidus. Proper imaging helps doctors to achieve the correct diagnosis early in the disease course, significantly shortening the treatment cycle and improving the patient’s quality of life. Osteoid osteoma (OO) is a benign bone tumour first reported by Jaffe  in 1935.A 23-year-old man sprained his left ankle while playing football 3 years previously. He complained of left ankle swelling and chronic pain. His ankle X-rays were unremarkable. Following this initial presentation, his symptoms gradually improved, but he continued to note intermittent resting pain at night that was unrelated to activity. This night pain could become severe but was relieved by NSAIDs. One year after his injury, the patient presented for treatment because of recurring left ankle pain and swelling. X-rays showed sclerotic lesions in the neck of the talus Fig. . MagnetiTable In the present case, the OO was subarticular. This type of OO presents with ankle joint pain, swelling, and obvious joint effusion in a manner similar to arthrosynovitis. When patients present for treatment after trauma, OO of the talus is rarely considered in the setting of long-term ankle joint pain. Without a detailed history and physical examination, it is easy to miss OO or misdiagnose it as arthrosynovitis –19, anklThe patient in the present case received treatment at his local hospital at the time of the first sprain and at the time of the arthroscopic surgery 1 year later. Although we were unable to obtain the X-ray images because the local hospital could not save them, a large amount of useful information can be obtained by analysing this case.Obtaining the correct diagnosis at an early stage in the current case was very difficult because the early symptoms and imaging findings were both atypical . The oriTalar OO, although rarely detected, should be considered in patients with post-trauma chronic ankle pain that is atypical in nature, associated with episodes of resting pain at night, not correlated with activity, and relieved by NSAIDs  in the sIn summary, OO in the ankle joint exhibits a progressive course and is difficult to diagnose, particularly during its early stage when characteristic symptoms are present but no lesion is detected. A patient with a history of chronic pain after trauma should be evaluated for OO of the talus and be advised to undergo regular re-examination. Patients whose illness history and imaging findings are atypical, do not display signs of joint instability, and have no ATFL tenderness should undergo CT scans to detect early-stage lesions. Multiple CT scans may be required to detect the nidus, but this imaging modality helps physicians to make the proper diagnosis as early as possible, thereby significantly shortening the lesion’s treatment cycle and improving the patient’s quality of life.


Localized laryngeal lymphoma is a rare entity with an incidence of less than 1% of all laryngeal neoplasms. Diffuse large B-cell lymphoma (DLBCL) is the most common type of laryngeal neoplasms. Here, we describe a case of a young 28-year-old female with large B-cell lymphoma who remained undiagnosed for a long time owing to a myriad of nonspecific presentation including “wheezing.” Although primary laryngeal lymphomas constitute a diagnostic challenge since they are rare, one should have a high index of suspicion for lymphoma of the larynx in patients presenting with unresolved wheezing as it can present catastrophically with acute airway obstruction requiring immediate surgical intervention which was observed in this case. Treatment includes radiotherapy, chemotherapy, immunotherapy, or a combination of these. We hope that the discussions ensuing from case reports regarding uncommon presentations of laryngeal lymphoma may spur the formation of regional/international databases for the description of lymphomas with unusual presentations. This effort can lead to in-depth study of cases and prompt awareness of “rare and subtle presentations” of laryngeal lymphoma. Localized laryngeal lymphoma is rare with an incidence of less than 1% of all laryngeal neoplasms with diffuse large B-cell lymphoma (DLBCL) being the most common type [A 28-year-old female with no significant past medical history presented with gradual onset, progressive nonexertional dyspnea, dry cough, and wheezing for 4 months. Review of symptoms was positive for low-grade fever, chills, night sweats, lightheadedness, and dizziness. She denied chest pain, hemoptysis, weight loss, sick contacts, leg swelling, or recent travel. She was treated with multiple courses of systemic steroids without much relief under the diagnostic impression of bronchial asthma exacerbations. Home medications included as needed albuterol and prednisone. Her family and social history were noncontributory. On physical examination, temperature was 36.3°C, blood pressure 126/82 mmHg, pulse 118/min, and respirations 21/min. Lungs examination revealed bilateral expiratory and inspiratory wheezing with increased work of breathing.9/L) and normocytic anemia (hemoglobin 11.7 g/dL). The comprehensive metabolic panel was unremarkable. Chest X-ray was normal. Serum beta 2 microglobulin and LDH levels were 1.60 (mg/L) and 119 (U/L), respectively. The computed tomography angiography (CTA) done outside hospital demonstrated large mass involving the upper esophagus, larynx, or thyroid gland encasing the upper airway causing the mass effect and narrowing on the upper trachea. It was deviating the trachea anteriorly and to the right. There was no evidence of pulmonary emboli. MRI soft tissue neck done at our facility showed mass lesion of posterior hypopharyngeal wall and subglottic region that extends to the medial portion of thyroid gland bilaterally. Computed tomography (CT) abdomen/pelvis with contrast revealed ongoing bibasilar atelectasis with nonspecific bronchial wall thickening.Complete blood count was significant for leukocytosis  from vertex of skull to thighs and computed tomography (CT) of head, neck, chest, and abdomen/pelvis without contrast were only significant for a hypermetabolic retropharyngeal soft tissue mass measuring 3 cm × 1 cm anteroposteriorly.The patient was diagnosed with high-grade diffuse large B-cell lymphoma germinal center B-cell (GCB) subtype. The clinical stage was 1E per Ann Arbor staging system. The IPI score was 0. Oncology team was consulted. She was started on dexamethasone and discharged to outpatient oncology clinic for R-CHOP  chemotherapeutic regimen. Since discharge, she has received the three cycles of R-CHOP therapy without complications. Repeat PET/CT scan was done after completion of 3 cycles that showed complete resolution of hypermetabolic activity in neck and no other significant abnormalities were reported. She was referred to radiation oncologist for radiotherapy but patient did not follow up and refused further treatment. She was encouraged to receive the radiation therapy and continue to follow up in oncology clinic regularly.Primary non-Hodgkin lymphoma (NHL) of the larynx was first reported by MacKenty in 1934 . The meaNHL is commonly localized in the supraglottic area and subglottic areas where lymphoid tissue predominates. It can also involve surrounding structures including salivary glands, thyroid, nasopharynx, and tonsils. Dissemination may eventually occur to other sites in the respiratory tract, stomach, lung, orbit, or skin after a long disease-free interval . The difStaging of non-Hodgkin B-cell lymphoma is done using the Ann Arbor staging system and includes stages I–IV, presence or absence of systemic symptoms, and the involvement of extranodal sites. Our patient was staged as 1E as she only had a single isolated site of extranodal disease. A surgical excision biopsy remains the optimal method of diagnosis and allows assessment of nodal architecture and provides adequate material for phenotypic and molecular studies.Lugano classification confirms the use of fluorodeoxyglucose positron emission tomography (FDG-PET)/CT scan as the gold standard for staging diffuse large B-cell lymphoma (DLBCL) . PET/CT Treatment for NHL includes radiotherapy, chemotherapy, immunotherapy, or a combination of these. Coiffier and his colleagues demonstrated that immunotherapy in the form of rituximab along with CHOP regimen has a significant role in the treatment of this tumor leading to increased rates of complete response, decreased rates of treatment failure and relapse, and improved overall survival as opposed to CHOP alone . CoiffieHowever, approximately 40% of patients that have been treated with R-CHOP will have refractory disease or disease that will relapse after an initial response, and the majority of patients with relapsed DLBCL will succumb to the disease , 12. GenBased on current available data, indications for radiotherapy include bulky disease (>7.5 cm), skeletal involvement, and partial response to immunochemotherapy among patients with nonbulky disease . In a reDiffuse large B-cell Lymphoma is heterogenous clinically, morphologically, and molecularly and hence treatment is variable depending upon staging and extent of involvement. Based on the SWOG studies, it is recommended to use 3 cycles of R-CHOP with involved field radiation, for most patients with stage I and nonbulky stage II disease . Our patOverall five-year survival of patients with NHL is 43 percent for low-grade and 48 percent for high-grade lesions . For extThe primary laryngeal lymphomas may present as a diagnostic challenge since they are rare and can present with nonspecific respiratory symptoms. The information ensuing from this case and others can help in the formation of regional/international database regarding unusual presentations of laryngeal lymphomas. Meanwhile, it is imperative that physicians should be cognizant of such rare presentations and be vigilant to evoke the diagnosis systematically considering potentially fatal outcomes.


The purpose of this article is to report a case of hemoptysis occurring in combination with secondary spontaneous pneumothorax following chemical pleurodesis by talc. A Japanese male with cancer of renal pelvis was found with the left pneumothorax and multiple lung metastases. A computed-tomography scan revealed severe emphysema throughout the lungs. Talc pleurodesis was employed to arrest air leakage. The patient developed hemoptysis 45 minutes after talc injection into the thorax. This is the first report of hemoptysis following talc pleurodesis. The agent could induce severe inflammation in capillary vessels of the lung following visceral pleura infiltration. Spontaneous pneumothorax is a common condition divided into primary and secondary types on the basis of presence or absence of underlying lung diseases such as emphysema and interstitial pneumonia , 2. MoreA 72-year-old Japanese male with cancer of the renal pelvis and a smoking history of 120 pack-years had continued on two cycles of doublet chemotherapy consisting of cisplatin with gemcitabine for the past year. He was referred to our hospital because of acute dyspnea. A computed-tomography (CT) scan of his chest at diagnosis revealed left pneumothorax, multiple nodules, pleural effusion, and severe emphysema throughout the lungs. μm) did not induce either ARDS or pneumonitis [μm) than in particles of mixed size [Surgical intervention is generally applied for recurrent or complicated pneumothorax. However, chemical pleurodesis is useful in management of inoperable patients. In fact intrapleural adhesion has been described as a treatment for patients with secondary spontaneous pneumothorax according to the clinical guidelines published by the British Thoracic Society  and the umonitis , 20. In xed size . Moreovexed size . These fxed size . In the There is no relationship between the success rate of pleurodesis and talc dosage over the range >2–10 g . Low dos


Dear Editor,A 24-year-old female presented with palpable, painful nodules, which had appeared threeweeks prior, on both calves. Laboratory tests showed no abnormalities. Magneticresonance imaging (MRI) revealed oval lesions showing high signal intensity in short-tauinversion-recovery (STIR) sequences, with enhancement after gadolinium infusion, in theventral portion of the muscles, together with oval lesions in the bones that showed lowsignal intensity in T1-weighted sequences and high signal intensity in STIR sequences and 2. T, which causes inflammatory granulomas in organs andtissues, affecting morewomen than men. Musculoskeletalsarcoidosis is a rare condition, first reported by Licharew in 1908, that has two forms of clinicalpresentation,5: nodular and myopathic. The nodular form often involvesthe extremities, especially the legs, giving rise to solitary or multiple nodules. The most common sign is a painless or only slightlypainful mass,2. The myopathic form involves the muscles in a symmetric,diffuse manner and does not form masses, manifesting as slowly progressive myalgia, withweakness, and atrophy, as well asresulting in high levels of creatine phosphokinase.Sarcoidosis is a systemic disease of unknown cause. Symptomatic muscle involvement occurs in 1.4% of the known cases ofsarcoidosis,7, compared with 1.0-13.0%  forsymptomatic skeletal involvement.Although joint involvement is common in musculoskeletal sarcoidosis, the presence ofmuscle and bone lesions is not; it is believed that such lesions are indicative of achronic and prolonged disease course,8-11. On MRI, nodular sarcoidosis has a characteristicappearance that can facilitate its accurate diagnosis-it typically consists of centralareas of fibrosis that show low signal intensity in all sequences, together withperipheral areas of granulomas that show high signal intensity in T2weighted sequencesand contrast enhancement,6-findings collectively known as a "blackstar". In myopathic sarcoidosis, the MRI findings are nonspecific-the affected muscleshows an increase in signal intensity in T2-weighted sequences, also showing atrophy and fattyreplacement in some cases.Because of the excellent tissue contrast provided by MRI, it can reveal musculoskeletalchanges that are not visible on X-rays, as well as allowing the identification of thelesions that are most suitable for biopsy. In 50-80% of sarcoidosis patients, abiopsy reveals granuloma formation in muscle tissue. However, in most cases, the patientshows no signs or symptoms of the disease.The differential diagnosis of musculoskeletal sarcoidosis includes other benign andmalignant mesenchymal masses, such as tophi, pannus formations, and xanthomas


Cholangiolocellular carcinoma (CoCC) is a rare liver tumor arising from the canals of Hering found between the cholangioles and interlobular bile ducts. Although morphologically CoCC mimics intrahepatic cholangiocarcinoma (ICC), CoCC exhibits a unique intermediate biologic behavior between hepatocellular carcinoma (HCC) and ICC. Curative resection is required for prolonged survival in patients with CoCC. However, effective therapy for postoperative hepatic recurrence has not yet been standardized.A 40-year-old man had an asymptomatic liver mass found during a regular medical examination. Contrast-enhanced computed tomography revealed a well-enhanced mass, 15 cm in diameter, in the right liver. He underwent right hemihepatectomy at a local hospital under the preoperative diagnosis of hepatocellular carcinoma. Pathologic examination confirmed a moderately differentiated tubular adenocarcinoma, leading to a diagnosis of ordinary ICC. Twelve months after surgery, he was referred to our hospital due to three hepatic recurrences in the left medial segment. He underwent partial hepatectomy for the recurrence, followed by adjuvant chemotherapy using gemcitabine alone. After the second hepatectomy, hepatic recurrences developed an additional seven times. The numbers and sizes of the recurrent tumors were very limited at each recurrence, satisfying the standard criteria for percutaneous radiofrequency ablation (RFA) for the treatment of HCC. All lesions were treated by percutaneous RFA, although this was an exceptional approach for ICC. He is now alive without evidence of disease 9.2 years after the first hepatectomy.Because his clinical outcome was satisfactory and not compatible with the typical negative outcomes of ordinary ICC, we re-reviewed the histological findings of his tumor. The tumor was composed of small gland-forming cells proliferating in an anastomosing pattern; the cell membrane was strongly immunoreactive for epithelial membrane antigen. These findings were in accordance with the typical features of CoCC, revising his final diagnosis from ICC to CoCC.This case report demonstrates a satisfactory outcome using repeated local treatments, such as hepatectomy and RFA, for hepatic recurrences of CoCC, suggesting that a localized treatment approach can be considered to be a therapeutic option. We should be careful in making a definitive diagnosis of ICC and ruling out CoCC because the diagnosis potentially dictates the treatment strategy for recurrences. Cholangiolocellular carcinoma (CoCC) is a rare primary liver tumor and was first described by Steiner et al. in 1959 . Theise It is well known that CoCC has favorable survival outcomes after curative resection . HoweverA 40-year-old Japanese man presented to a local hospital for evaluation of an asymptomatic liver mass detected during a regular medical examination. He had no medical history of chronic hepatitis or fatty liver. Serum tumor markers were increased; the patient’s protein induced by vitamin K absence or antagonist-II (PIVKA-II) level was 2737 mAU/ml, and his alpha-fetoprotein (AFP) level was 23,054 ng/ml. The patient’s serum carbohydrate antigen 19-9 (CA19-9) level was not measured. Contrast-enhanced CT revealed a well-enhanced mass, 15 cm in diameter, in the right liver without extrahepatic lesion , the size of which ranged from 8 to 26 mm Fig. . He was The patient received adjuvant chemotherapy with gemcitabine alone  for 10 months after the second surgery. However, the follow-up CT revealed a 15-mm hypervascular tumor in the left lateral superior segment (S2), which was compatible with a recurrence. As a result, he was then referred to another hospital for percutaneous RFA. Abdominal ultrasound at the referral hospital showed another 6-mm tumor in the remnant segment 4. Both lesions were successfully treated by ultrasonography-guided percutaneous RFA  with a sufficient safety margin. Following the procedure, he underwent gadoxetic acid-enhanced magnetic resonance imaging (EOB-MRI) every 1 to 2 months for surveillance. In total, he developed hepatic recurrences an additional seven times following the second hepatectomy, and a total of 10 recurrent tumors in all were treated by percutaneous RFA (Fig. Because his clinical course was not compatible with the usual negative course observed in patients with postoperative liver metastasis of ordinary ICC, we re-reviewed the histological findings of the initial recurrent lesions. The histological slides of the primary tumor were not available. Surprisingly, several specific features of CoCC were found: small-sized gland formation, proliferation in an anastomosing pattern, gradual transition to naive hepatocytes, and no mucin production Fig. , while tCoCC shows a variable histological morphology depending on the extent of the associated ICC/HCC components. Such an inherent histological heterogeneity potentially complicates the pathologic diagnosis of CoCC. Komuta et al. proposed that CoCC is defined as when the proportion of CoCC accounts for more than 90% of the entire tumor . AccordiThe present patient has survived for 9.2 years without disease despite eight hepatic recurrences and tumor exposure during the second hepatectomy. This favorable outcome was explained by a liver-limited relapse, small number and size of the recurrent tumors, and no local relapse at the positive surgical margin. These results were due to the less aggressive nature of CoCC compared to ICC , 6 and pTo our knowledge, besides the present case, there are three English case reports discussing local treatment for intrahepatic recurrence of CoCC Table  11–13].–13.11–13RFA is a widely applicable treatment for hepatic malignancies , particuSome factors led to successful RFA in the current patient. First, CoCC presented as a hepatic parenchymal mass without periductal and vascular invasions . These lThis case report demonstrated the effectiveness of localized treatment for hepatic recurrences and a difficult CoCC diagnosis. Due to the less aggressive nature of CoCC, liver-targeting localized therapies benefit patients with liver recurrences of CoCC. RFA can be considered to be a therapeutic option for limited hepatic recurrence of CoCC.


Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently.We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation.To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy.The final diagnosis is confirmed with radiological examination after the termination of pregnancy.Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios.The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field. It presents with a variety of phenotypes and is incompatible with life, while death usually occurs in the perinatal period.,3 The incidence of sirenomelia varies between 1.1 and 4.2 per 100,000 births and has no difference among ethnic groups. It is diagnosed by prenatal ultrasonography, while antenatal ultrasonography scan findings include oligohydramnios, renal agenesis, and a fibula between the tibiae.Sirenomelia sequence, also known as sirenomelia, is a birth defect of the lower body, characterized by apparent fusion of the legs into a single lower limb.Anencephaly is characterized by an open neural tube in the cephalic region, with an exposed mass of degenerating neural tissue on the skull floor. The cranial vault is absent, producing characteristic bulging of the eyes and absence of the neck. It is presented with a gross malformation in both the membranous neurocranium and chondrocranium. Anencephaly is classified as meroacrania if the defect does not affect the foramen magnum, holoacrania if it extends through the foramen magnum, and holoacrania with rachischisis if it presents with spina bifida.The coexistence of sirenomelia with anencephaly and rachischisis totalis is a very rare condition and there have been only 6 cases reported in the literature so far.2A 20-year-old woman with an uncomplicated previous pregnancy and an unremarkable medical and family history was first seen at 25 weeks of her second gestation. During ultrasound scan, severe oligohydramnios and growth restriction were noted and she was referred to our department for investigation and management of the pregnancy.Ultrasonography demonstrated anencephaly Fig.  and spinInternal examination showed the absence of the rectum and both kidneys, ureters, bladder, and urethra. The diagnosis of anencephaly and symelia apus was done both with external examination and radiological examination of the fetus.3 In 1991, Rodriguez et al, described a case of sirenomelia combined with anencephaly, on a monozygotic twin. Ultrasound scan at 25 weeks of gestation demonstrated 1 normal twin and 1 with alteration of the head and abnormal lower limbs. The twins were delivered at 32 weeks of gestation. The first twin was a female who underwent laparotomy and right adnexectomy right after birth due to a large adnexal cyst that proved to be a mature cystic teratoma with granulomatous reaction against squamous epithelial cells in the wall of the cyst. An autopsy report showed a duplication of the cervix, uterus, and vagina and a normal left ovary. The second twin was a hydropic stillborn anencephalic sireniform fetus of unidentifiable sex. External examination showed the absence of cranial vault, bulging eyes, cleft palate, flat nose, low set and malformed ears, along with a short neck.Sirenomelia with anencephaly was first reported in 1953 by Battaglia and Fraccaro.In our case reported, the patient had a singleton pregnancy that was diagnosed at her first visit for an ultrasound scan at 25 weeks of gestation. The ultrasound showed severe oligohydramnios and intrauterine growth restriction (IUGR). Upper limbs appeared to be normal while only 1 femoral bone was recognized. Our presented case combines cephalic and caudal defects of the embryo and could be considered an example of the “axial mesodermal dysplasia spectrum.”The originality of this case lies on the fact that during the first prenatal visit, in spite of severe oligohydramnios, we were able to identify via sonography in the early second trimester of pregnancy, findings that constituted with anencephaly and sirenomelia. Although our case was a singleton pregnancy, sirenomelia combined with anencephaly seem to be in excess frequency in monozygotic twins.Anencephaly in patients with sirenomelia could be the only neural tube defect (NTD) or it could be associated with an exposed area of spinal cord of variable extent. The extent of the NTD could be inversely correlated with the lower limb abnormalities. In our case, the patient had oligohydramnios, which made the prenatal diagnosis a difficult process. However, based on the ultrasound findings of severe IUGR, single femoral bone, and anencephaly, the pregnancy was terminated and the diagnosis was confirmed by observational and radiologic studies of the fetus. Ultrasonographic diagnosis of anencephaly could be easy but the combination of anencephaly and oligohydramnios should set the suspicion for more complex anomalies. Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios. The final diagnosis is confirmed with radiological examination after the termination of pregnancy.Polyhydramnios is found frequently in gestations of anencephalic infants while oligohydramnios is observed mostly in sirenomelia.4Sirenomelia with anencephaly and rachischisis totalis is a rare complication of pregnancy. This anomaly is not compatible with life and the diagnosis is extremely challenging, thus highlighting the importance of a thorough ultrasound examination. Termination of pregnancy is recommended upon diagnosis, with a detailed consultation followed by close-up monitoring for future pregnancies.


This typeof tumor is found more frequently on the central and peripheral nervous system andrarely occurs on the gastrointestinal tractFemale, 74 years old, presented on the emergency room with a chief complaint ofabdominal pain, nauseas, vomiting, prostration and dizziness with one week of evolution.She reported past history of diverticulitis and denied weight loss, hematoquezia orprevious abdominal surgeries. During the physical examination, she complained of pain ondeep upper abdominal palpation, although no abnormal mass could be detected. Proctologicexamination and laboratory exams showed no abnormalities. Abdominal ultrassonography showed a nodular solid heterogenic type image on the leftflank, with 6.1x5.6x4.3 cm. Investigation with contrasted computed tomography detectedan delimited intramural lesion on the transverse colon, without invasion of surroundingorgans .th postoperative day. Colonoscopy, with exploration until the cecum, showed not only sigmoidal diverticulus,but also an intraluminal bulging on the topography of distal transverse colon, withadjacent normal aspect mucosa, suggesting extrinsic mass growth and lumen compression.Since the research for metastatic lesions was negative, extended left colectomy wasperformed, with ressection of 18 cm intestinal segment, containing a 5.6x5.0x4.8 cmmass, located on the transverse colon, beside the splenic angle. The pacient had asatisfatory evolution, leaving hospital on the 6The anatomopathologic analysis have highlighted a fusiform cell mesenchymal lesion,extending from colon submucosa until its subserous layer, with moderate cell nucleusatypia and two mitosis per 50 high-power fields, without evidence of hemorrhage ornecrosis.Immunohistochemical research showed positive results for kit gene products (C-kit/CD117)and for glial fibrillary acidic protein (GFAP) and S-100 protein. The results forhematopoietic cells antigene (CD34), desmine and smooth muscle actin (CD117) werenegative. This profile was compatible with a gastrointestinal tract schwannomadiagnosis.,,,,,,,,,,,,,Schwannoma represents 0,2-1% of all gastrointestinal tract tumors, occuring morefrequently on the stomach and rarely on colon and esophagus,The initial evaluation is made by computed tomography or nuclear magnetic resonance(NMR) to determine location, size, density of the lesion and attempt to identifymetastasis,,,,,,,,,,,,Therefore, in case of dealing with a resectable neoplasia, with high probability ofmesenchymal tumor, surgical approach is indicated, with wide margin lesion resection,without necessity of lymphadenectomy, since the risk of metastasis in those cases isvery low5,9.The most important mesenchymal tumors prognosis factors, specially for GIST, are tumorsize and mitosis index