22.08.2013

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Poland syndrome is a rare congenital anomaly characterized by unilateral aplasia of the costosternal portion of the pectoralis major muscle, absence of the pectoralis minor muscle, deformity or aplasia of the costal cartilages or ribs II to IV or III to V, hypoplasia or aplasia of the breast and nipple, athelia, scarcity of subcutaneous tissue, alopecia of the axillary and mammary region and unilateral syndactyly or brachysyndactyly.
The congenital unilateral absence of the breast (amastia) and the nipple (athelia) is a very rare deformity and more often encountered in women. All published work is licensed under a Creative Commons Attribution 4.0 International License.
We report a case of a 36-year-old Mexican male who presented with severe non-specific lower abdominal pain, fever and laboratory data suggestive of a systemic disease. The differential diagnosis of localized inflammation of the distal ileum most commonly is seen in Crohn's disease but the differential diagnosis is very broad and includes aggressive lymphomas such as ENKL.
A 36-year-old immigrant from Mexico presented to our hospital with a two-month history of intermittent non-bloody diarrhea, abdominal pain, occasional fever and sweats.
Our gastrointestinal consultation suggested that despite the CT findings, the presentation, history and elevated liver enzymes did not support a diagnosis of inflammatory bowel disease. Microscopic examination revealed ulcerated and perforated bowel segment with transmural involvement by diffuse population of cytologically atypical medium to large lymphoid cells. Figure 1: Cross sectional computed tomography scan of the abdomen showing from the furthest left arrow, cecum to thickening of terminal and distal ileum. Figure 2: Photomicrograph showing diffuse infiltration of bowel wall by lymphoid cells with superficial ulceration (H&E stain, x40). While the nose and para-nasal areas are most commonly affected sites for ENKL , the disease entity can affect skin and the gastrointestinal tract [7]. When extra-nasal ENKL does involve the gastrointestinal tract it is exceptionally rare and usually follows an aggressive clinical course with a poor survival outcome. Localized inflammation of the distal ileum most commonly is seen in Crohn's disease but the differential diagnosis is broad and includes lymphomas, endometriosis, vasculitides, systemic disorders such as amyloidosis and sarcoidosis as well as infectious etiologies [10]. In one case review of ENKL cases involving the small intestine 10 out of 17 patients underwent primary surgical resections as emergency treatments due to intestinal obstruction or perforation. In general diagnosis of primary gastric lymphomas can be very difficult and the clinician's index of suspicion should be very high to allow for extensive investigation. Colonoscopy with TI intubation of the terminal ileum can be revealing as well as push enteroscopy for the detection of proximal small bowel lesions, with biopsy of lesions which can be diagnostic.
While there is a role for surgery in management of localized intestinal B cell lymphomas, the role of surgery in gastrointestinal tract ENKTL is undefined [9] [11]. Surgery for a gastric Dieulafoya€™s lesion reveals an occult bleeding jejunal diverticulum.
In our case report, we aimed to discuss metachronous bladder metastases detected during the follow-up of two cases that had undergone radical nephrectomy for renal cell cancer in light of current literature information. Renal cell cancer metastasizes to the bladder very rarely, and only a limited number of cases are reported in literature. Renal cell cancer accounts for approximately 2–3% of all cancers and annually increases by 2%. A 53-year-old male presented to our polyclinic with a one-month history of painless intermittent hematuria. Figure 1: A tumorous lesion with a polypoid structure seen in the bladder on the lower abdominal tomography. Approximately, one-third of cases diagnosed with renal cell carcinoma have metastases at diagnosis, and distant metastases develop later in 30% of all cases.
We would like to thank the staff of Urology and Obstetrics and Gynecology department that took part in the care of this patient. The prevailing theory regarding its cause is that the hypoplasia of the subclavian artery or its branches may lead to a range of developmental changes. We present one very unusual case of Poland syndrome in a woman referred to the Hospital for the treatment of uterine fibroma with amastia-athelia and dextrocardia without complete mirror-image transposition of the adbominal and thoracic viscera and we also review the literature. Extranodal T- NK-cell lymphoma, nasal type masquerading as ileal inflammatory bowel disease. The initial differential diagnosis was inflammatory bowel disease because of the non-specific finding of terminal ileum thickening seen on a computed tomography scan. This diagnosis should be considered in a clinical setting of a patient from Asia or Latin America with the appearance of unexplained small bowel localized inflammatory disease.
This disease is a non-Hodgkin's lymphoma that is rare in Western Countries but endemic to East Asia and parts of Central and South America [1]. In general, gastric lymphomas account for only 2% of gastrointestinal malignant neoplasms and diagnosis is usually made late in the clinical course because of their non-specific and localizing symptoms [5][6]. Before he presented to us, he was hospitalized at another institution where he told that he had a colonoscopy for similar symptoms which was reported to be normal. An abdominal X-ray was performed and showed free peritoneal air because of an increasingly rigid abdomen suggesting a perforated viscus. The photomicrograph (Figure 2) shows diffuse infiltration of bowel wall by lymphoid cells with superficial ulceration.
It is a non-Hodgkin's lymphoma (NHL) that is rare in Western Countries but common in East Asia and Latin America.
Nasal ENKL frequently presents as a localized disease and extra-nasal ENKL is usually detected at an advanced stage.
CT scans of the abdomen and pelvis can detect multiple large tumors with visualization of bowel segments with lumen that is narrowed, enlarged or both. PET (Positron emission tomography) scan findings vary depending and there is very little data with regard to its usefulness in the detection of gastrointestinal lymphomas and FDG activity may also related to inflammatory conditions and infections [12]. In one case study patients diagnosed by endoscopy were alive for more than 14 months with diagnosis by DBE (double balloon enteroscopy) followed by DBE during chemotherapy [11]. Most patients have undergone resection of their primary mass lesion in early staged lesions for complications such as bleeding or perforation.
Our patient presented with severe non-specific lower abdominal pain, fever and laboratory data suggestive of a systemic disease.
A case of enteropathy-type T-cell lymphoma diagnosed by small bowel enteroscopy: a perspective on imaging-enhanced endoscopy. Expression of killer cell inhibitory receptors is restricted to true NK cell lymphomas and a subset of intestinal enteropathy-type T cell lymphomas with a cytotoxic phenotype. Primary gastrointestinal lymphoma: spectrum of imaging findings with pathologic correlation.
As the use of imaging methods has increased the incidence of these tumors that are often detected incidentally is increasing. Renal cell cancer commonly develops in the sixth and seventh decades and men, and more than 50% of the cases are diagnosed incidentally [2].
The detailed anamnesis of the case revealed that he had a right radical nephrectomy performed for a mass in the kidney seven years ago.


It was learned from the case anamnesis that he had undergone a radical nephrectomy operation for a right renal mass approximately three years ago. Approximately, 2% of bladder tumors are metastases of a primary tumor originating from a different region [9]. It is not entirely understood how renal cell carcinomas metastasize to the bladder, but it is believed to spread through the hematologic, lymphatic and urinary systems. Especially, in cases operated for renal cell carcinoma or bladder tumor cases with coexisting renal masses detected in tests the possibility of bladder metastases of renal cell carcinoma must be considered in the differential diagnosis.
The value of cytoreductive nephrectomy for metastatic renal cell carcinoma in the era of targeted therapy. A rare case of synchronous renal cell carcinoma of the bladder presenting with gross hematuria.
Metachronous bladder metastases from renal cell carcinoma: a case report and review of the literature. An unusual case of Von Hipple Lindau (VHL) syndrome with bilateral multicentric renal cell carcinoma with synchronous solitary urinary bladder metastasis. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. As occurs in most patients with ENKL, the patient died rapidly in the setting of an aggressive lymphoma and the complication of intestinal perforation.
Most patients (80–90%) present with localized nasal and para--nasal disease with symptoms of nasal obstruction and epistaxis due to a destructive mass involving midline facial tissues. Extra-nasal ENKL which can involve the gastrointestinal tract occurs in the small intestine with bleeding, intestinal obstruction and perforation. His main complaint on admission to our hospital was persistent severe right lower quadrant pain refractory to opiates.
Clostridium difficile causing typhlitis is some of the common infectious causes of terminal ileitis [10].
Multiple endoscopies may be necessary before the diagnosis is reached but the index of suspicion must be high enough. After surgery patients usually undergo systemic chemotherapy if they have localized disease and have a good performance status.
The initial leading diagnosis was inflammatory bowel disease because of the non-specific finding of terminal ileum thickening seen on a CT scan. After reviewing the pathology records of the patient, it was seen that the sections of the tumor from radical nephrectomy of the patient was reported as renal cell carcinoma (clear cell type). Six months ago, no pathologies were detected in the last follow-up at the clinic where, operation was performed.
Metastatic tumors develop as a result of direct invasion from adjacent anatomical regions or metastases from distant organs.
He denied exposures to tuberculosis and his chest X-ray on admission had been unremarkable. Extensive inflammation of the terminal ileum with a perforation was found, he underwent ileocolonic resection and anastomosis. EBV has a transforming activity on lymphocytes and may play an important role in lymphoma genesis.
Despite increasing treatment options, the prognosis of renal cell carcinoma patients is poor and the average two-year survival is 10–20% [4]. It was learnt that he had received sunitinib treatment for approximately three years as the disease was at an advanced stage and was delivered radiotherapy (RT) for the metastasis to the left femur head. There was no feature other than the incision scar secondary to the radical nephrectomy in the physical examination of the case.
While colon, prostate, cervical and uterine cancers spread to the bladder by direct invasion, the most common sources of the distant organ metastases to the bladder are malignant melanoma and lymphomas. Hematologic metastases develop in two ways: the first is systemic inoculation that is the most common mechanism of renal cell carcinoma spread, and the second is retrograde spreading through the gonadal vein [11]. Immunohistochemistry revealed reactivity of the neoplastic cells for CD2, CD3, CD56, Epstein-Barr virus-encoded small RNAs (EBER) and were negative for CD20, CD5, CD4, CD8, CD15, TIA (cytotoxic granule-associated protein expressed in natural killer (NK) cells and cytotoxic T lymphocytes), Activin receptor-like kinase-1 (ALK-1), CD23, and CD21. Histological specimens of ENKL have been shown to have diffuse proliferation of lymphoma cells with an angiocentric or angiodestructive growth pattern. Symptoms are broad and include abdominal pain, gastrointestinal bleeding and perforation, which most often times is misdiagnosed as inflammatory bowel disease or appendicitis [4]. In general, overall survival has been shown to be significantly better for patients treated with combined radiation and chemotherapy rather than radiation therapy alone. It can be complicated not only by diverticulitis, but by hemorrhage, perforation, intussusception, volvulus, malabsorption and even small bowel obstruction due to enteroliths formed and expelled from these diverticula.MethodsWe describe a case of an occult bleeding jejunal diverticulum, casually discovered in a patient that was taken to surgery for a Dieulafoya€™s lesion after unsuccessful endoscopic treatment.
Metastases occur mostly to the lungs (75%), and the liver (40%), bones (40%), soft tissue (34%) and the pleura (31%) [5]. There were no features other than the right anterior subcostal incision secondary to the radical nephrectomy in the physical examination.
Bolkier has shown many connections that allow retrograde tumor spread within the lymphatic system [12].
In 2007, the a€?Guideline for the management of third and fourth degree perineal tears after vaginal birtha€? was established by members of the Austrian Urogynecologic Working Group (AUB). The lymphoma cell express NK cell markers including CD2, cytoplasmic CD3, CD7 and CD56 [7][8].
Nongastrointestinal manifestations of ENKL include nasal obstruction of systemic symptoms such as fever and night sweats. The five-year overall survival in localized ENKL has been reported to be about 39–46% and patients with extra-nasal disease have been shown to have significantly shorter five year overall survival [4]. Bladder metastases are rare and according to a large-scale meta-analysis only 65 cases have been reported [6].
The urinary system ultrasonography of the case revealed a 3x3 cm lesion protruded to the lumen thought to be originating from the dome of the bladder. Another mechanism that could explain the spread of renal tumors to the bladder is the antegrade spread of tumor cells using the upper urinary tract [13]. A contrast computed tomography (CT) was performed (Figure 1) showing extensive thickening of the wall of the terminal ileum with stranding of the mesentery which the primary team felt might be secondary to inflammatory bowel disease. While no relapse was observed in the retroperitoneal area in the whole abdominal tomography, a tumorous mass of 5x4 cm originating from the left lateral wall and protruding into the lumen was present in the bladder (Figure 1). In the cystoscopy performed under general anesthesia the 3x3 cm, solid, pedunculated tumorous lesion originating from the dome of the bladder was observed, and transurethral tumor resection was performed in the same session.
In a study that reviewed metastases of renal cell carcinoma to the bladder, 23% had bladder metastases coexisting with the kidney tumor and bladder metastases were detected in 77% of the patients after an average of 33 months after the kidney surgery [6]. The highest incidence of JD occurs during the sixth and seventh decades of life, and the disease is thought to be more common in males. In our article, we aimed to discuss the metachronous bladder metastases detected in our two cases that had previously undergone radical nephrectomy with the diagnosis of renal cell carcinoma in light of current literature information.


The transurethral resection material sent was reported as (Figure 2) renal cell carcinoma (clear cell type) metastasis.
In one of our cases, the bladder metastasis was detected 84 months after the radical nephrectomy and 36 months after in our another case.
The positron emission tomography scan of the case showed increased metabolic activity at the operation site and magnetic resonance imaging (MRI) scan was performed to evaluate the presence of relapse or residual masses, and no pathologies were detected. In the same study, it was also reported that 62% of the patients had isolated metastases and 38% also had metastases at other focuses [6].
The transurethral tumor resection material was evaluated as renal cell carcinoma (clear cell type) metastases in the histopathological evaluation and the positron emission tomography scan revealed no other metastatic focuses. The case was admitted to a routine follow-up program, and no relapse was identified in the three-month follow-up cystoscopy.
Both the symptoms and findings of bladder metastases of renal cell carcinoma mimic primary bladder tumors.
Six months after the bladder tumor was resected, the case was diagnosed with a brain metastasis in the brain surgery clinic he presented with complaints of headaches, nausea and vomiting and these metastases lead to the death of the patient.
Generally, the first presenting complaint of cases is gross hematuria and in imaging studies, they appear as limited circular masses extending to the bladder lumen. An upper gastrointestinal endoscopy was performed showing a 2 cm bleeding ulceration at the corpo-antral junction in the greater curve. In cases with detected renal cell cancer, gross hematuria does not appear until the renal pelvis is involved.
Endoscopic ultrasound (EUS) confirmed the presence of a single long vessel of 1 mm diameter perforating the muscular layer of the gastric wall and coming to lie in the submucosa.
In cases with significant hematuria, a synchronous transitional cell carcinoma or renal cell carcinoma in the bladder must also be considered [5]. Similarly, the lesions in our cases had regular contours and solid structures in the cystoscopy examination.
It was diagnosed a Dieulafoya€™s lesion (DL) according to the following diagnostic criteria: 1.
However, there is no single effective treatment method for metastatic renal cell carcinoma. Most of the patients die in less than one year after the treatment of the metastases [5] [9][14] [15]. In the case report by Raviv et al., the patient had survived disease-free for six years after the transurethral resection of the bladder metastasis [16]. Injection of epinephrine (1:10) and the use of endoscopic clips led to complete cessation of bleeding [7].
One of our cases died of a brain metastasis six months after the tumor in the bladder was completely removed.
No complications developed after the procedure and there was no recurrence of bleeding at the 90-day follow-up.
No relapse was detected in the follow-up cystoscopy of our another case after resecting the bladder tumor. After six months the patient was readmitted because of a worsening of general condition with acute upper GI bleeding. Eight months have passed since the treatment of the metastatic bladder tumor of our case, and the patient continues to live disease-free.
At the follow-up the failure of procedure needed a gastric wedge resection.The patient suffered of a severe stage of COPD and laparoscopic procedure was contraindicated so the laparotomy was performed. Intraoperative abdominal exploration incidentally revealed a jejunal diverticulum close to caecum [Fig.1]. Three enteroliths were founded formed inside with a smooth dark outer surface, the largest one of 3 cm in major diameter without protruding into the intestinal lumen. Histological sections of bowel showed wall thinning of the jejunal mucosal with bleeding areas and intense neutrophilic exudate that covered all the coats of the intestinal wall.
The evolution of endoscopic methods of haemostasis has markedly reduced the need for surgery achieving more than 90% of resolution [8, 9]. These procedures can be classified into three groups: electrocoagulation, regional injection and mechanical treatments [10, 11]. On the other hand, the re-bleeding after injection monotherapy is reported to be up to 55%.More studies have shown that mechanical endoscopic methods, such as the clip placement (EHP) and the band ligation (EBL), are more effective treatments than other endoscopic methods. Ahn reports in a retrospective single center study both EHP and EBL are suitable for the treatment of bleeding DL.
EBL can be used as an initial haemostatic method for bleeding DL because of a favorable clinical outcome comparable to that with EHP and a shorter procedure time [12].The risk of re-bleeding has a range of 9-40% and is higher in endoscopic monotherapy compared with combined methods. Springer, Heidelberg, pp 149a€“157CrossRef26.Nordenstam J, Mellgren A, Altman D, LA?pez A et al (2008) Immediate or delayed repair of obstetric anal sphincter tearsa€”a randomised controlled trial. Angiography, more suitable for lower GI tract lesions, can be used to stop the bleeding by selective embolisation of the feeding vessel, but up to date there are conflicting data [10]. Wide-wedge resection is today the last surgical resort overtaken by advances in endoscopic procedures. Actually, surgery has a role in the 5% of uncontrolled or unidentified bleeding and in the failure of endoscopic interventions [6, 13, 14].Jejunal diverticular diseaseJejunal diverticular disease is a rarely found pathology (A±5% of post-mortem examinations). Despite being a rare pathology, there is a greater prevalence of JD disease in the older age population but it is often asymptomatic. Diverticular disease of the small intestine is noted in 60%-70% duodenal, 20%-25% jejunal, and 5%-10% ileal [2].
JD is diagnosed as an incidental finding of computed tomography imaging, small bowel barium radiographic series or during surgery [3, 1].
It recognizes the service type parameter and is capable of direct linking to to the desired content. Some patients have a history of chronic symptoms such as vague abdominal discomfort, fullness, pain or recurrent central and upper abdominal cramps because of pseudo-obstruction. Anemia due to iron deficiency and megaloblastic anemia have often been reported and commonly attributed to malabsorption, steatorrhea, and B12 vitamin deficiency [3]. Patients with JD can present with emergent complications such as massive gastrointestinal bleeding, intestinal obstruction or perforation [15].
The clinician must be mindful to the possibility of multisite lesions and to the correlation between results of the investigations and clinical condition of the bleeding patient. In this case the incidental discovery of an occult bleeding lesion and a targeted surgical approach made us to ensure a suitable therapy of GI bleeding.



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