Primary melanin-producing tumors are rare extra-axial neoplasms OPEN of the central nervous system. In the literature, few case reports have discussed neoplasms involving the cavernous sinus; of these, only 4 have reported on neoplasms originating in Meckel cave. The diagnostic approach, including clinical and radiological analysis, is challenging, and cytopathological assessment with a molecular basis is the best approach to discriminate between these lesions. Herein, we discuss the pathophysiology, diagnostic approach, intraoperative features, and postoperative management in a unique case of primary pigmented meningeal melanocytoma originating in Meckel cave in a patient who was diagnosed with Carney complex (CCx) and sickle cell disease (SCD).A 23-year-old man diagnosed with SCD had also been diagnosed previously with CCx, without any familial history or neurocutaneous melanosis. He had experienced headaches accompanied by left facial pain and paresthesia for 2 months.The initial computed tomography scan and magnetic resonance imaging (MRI) revealed a mass arising from the left Meckel cave. On MRI, it followed the signal intensity of melanin. He underwent subtotal resection of the mass. Considering the patient's history of CCx, melanocytic schwannoma was the most relevant diagnosis. A postoperative histopathological examination was suggestive of benign pigmented meningeal melanocytoma.The patient underwent an uneventful subtotal resection of the mass through a left temporal linear incision.The patient showed progressive improvement of neurologic deficits, and after 2 years of follow-up, he did not present with any new complaints.To the best of our knowledge, this is the first report of the unusual presentation of both SCD, as well as of primary pigmented meningeal melanocytoma in a patient with CCx. Complete surgical resection can be curative in most cases of melanocytoma. The presence of CCx with SCD suggests potential shared genetic contributions that will require further exploration. The annual incidence of these lesions has been estimated to be approximately 1 per 10 million people, with a predilection for women. They commonly involve the posterior fossa and upper cervical spine due to the presence of melanocytes in these sites.Primary melanocytic tumors of the central nervous system are extremely rare neuroectodermal neoplasms arising from the leptomeninges. They either manifest focally, as is the case for melanocytoma or primary malignant melanoma, or in a diffuse manner, as is observed in cases of leptomeningeal melanocytosis and primary leptomeningeal melanomatosis.According to the World Health Organization classification of primary brain tumors, meningeal melanocytomas are classified under a subgroup of primary melanocytic neoplasms that have intermediate grade properties with low mitotic activity not fulfilling the criterion for malignant melanoma.,5–11 Herein, we discuss the pathophysiology, diagnostic approach, intraoperative features, and postoperative management in a unique case of primary pigmented meningeal melanocytoma originating in Meckel cave in a patient who was diagnosed with Carney complex (CCx) and sickle cell disease (SCD).Only 8 patients have been reported with primary melanocytoma originating from the cavernous sinus, 4 of whom presented with melanocytoma originating specifically from Meckel cave.1.1A 20-year-old male patient with a known case of SCD was diagnosed with CCx at our hospital when he was admitted with hypertension. During his first visit to the hospital, his work-up analysis revealed bilateral primary pigmented nodular adrenocortical disease, cardiac myxoma, and calcified testicular tumor Fig. . He revi1.2The patient's symptoms gradually worsened, especially with chewing and exposure to the cold. Neurological examination revealed left fifth and sixth cranial nerve palsies. There was no history of neurocutaneous melanosis or CCx in his family.1.3An initial brain computed tomography (CT) scan revealed a well-defined mass that originated from the left Meckel cave. Its internal texture appeared heterogeneously hyperdense on an unenhanced CT scan Fig. A. Crania1.4Subsequently, subtotal resection of the mass was performed through a left temporal linear incision and by creating a burr hole above the zygoma, followed by craniotomy. The dura opened in a “C” shape, and the dura above the bulging mass was exposed; this revealed a coal-black, encapsulated mass, originating in Meckel cave and adhering tightly to the trigeminal nerve. The tumor was removed in pieces until the vessels were apparent and a subtotal tumor resection was achieved. Grossly, the tumor was a soft, fragile, pigmented mass covered with a thick white capsule Fig. .Microscopically, the tumor revealed nests of epithelioid-cell infiltration and spindle-shaped neoplastic cells with heavy melanin pigmentation. The cells contained typical macro-nuclei with few irregularities in the nuclear contours and prominent nucleoli. Nevertheless, the cytoplasm was abundant, and neither mitosis nor necrosis was observed.The tumor was histopathologically examined for cell markers, including cluster of differentiation (CD)136, CD34, and KI67 protein. The tumor was also tested for immunoreactivity staining with epithelial membrane antigen, human melanoma black 45 (HMB45), microphthalmia-associated transcription factor, tyrosinase, vimentin, S100 protein, melanoma antigen (Melan-A), and reticulin. The results were difficult to interpret because of the heavy pigmentation; however, a positive expression of Melan-A, S-100, and HMB45 was noted. Significantly, there was total depletion of reticulin and an absence of Psammoma bodies. Other immunohistochemical findings were predominantly negative and cellular proliferation, measured by staining for Ki-67, was <1%.However, based on these findings, a diagnosis of meningeal melanocytoma rather than melanocytic schwannoma or malignant melanoma was established Fig. .1.5The patient's postoperative course was uneventful as observed through continuous follow-up imaging Fig. B and pro2To the best of our knowledge, there are only 4 cases of primary meningeal melanocytoma originating in Meckel cave described in the literature Table . Of inte On MRI scans, they usually present with homogeneous bright intensity on T1-weighted images and dark signal intensity on T2-weighted images because of the paramagnetic effects of free melanin radicals. Besides, they show homogeneous enhancement after gadolinium contrast administration. However, this signal pattern on MRI scans may vary based on the melanin and hemorrhagic concentration within the lesion; the lesion can present a heterogeneous signal intensity and a variable contrast-enhancing pattern.These lesions typically appear on CT scans as extra-axial isodense to hyperdense lesions, with dural and meningeal attachment. Further, they may show homogeneous enhancement after contrast administration. Although melanocytomas reportedly have imaging features similar to those of other dural tumors, after gadolinium contrast administration, the lesion in our case showed heterogeneous enhancement; in addition, after performing a subtraction of T1 post-contrast from conventional T1 pre-contrast sequence, a faint peripheral posterolateral enhancement was observed . We therefore believed that the chances of recurrence or malignant transformation were low in our patient. Regardless, the possibility of local recurrence, regrowth, or malignant transformation should be considered, and follow-up neuroimaging is advised. This may help the referring clinicians to understand the progression of the disease and inform treatment decisions. In our case, follow-up imaging over 2 years showed no evidence of regrowth . Researchers believe that additional and as yet unidentified genes may cause the disorder in these cases (genetic heterogeneity). Interestingly, there are several other diseases that have symptoms similar to those of CCx, further emphasizing the need to explore the genetic basis for diseases that coexist with CCx.While studies have shown that the mutations of the Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha (PRKAR1A) gene (which is located on chromosome 17), are mainly responsible for CCx, there have been several reports of mutations on the short arm of chromosome 2 being involved as well.On the basis of these findings, investigators should identify additional genes that could link both conditions together, especially as SCD is composed of various genotypes. Nearly all genetic studies of SCD have concentrated on this β-globin genotype found on chromosome 11. However, other genotypes are the result of compound heterozygosity for HbS and other hemoglobin variants, including HbC, HbE, HbD, and HbS-β thalassemia.3This study is the first report of primary pigmented meningeal melanocytoma in CCx and of CCx with SCD. As meningeal melanocytomas are considered benign, complete surgical resection can be curative in most cases, and subtotal resection can also have a good outcome and prognosis. Altered gene mutations involved in variable morphogenesis and transcriptional regulation potentiate the further study of genes enriched in CCx, particularly those with coexisting SCD. The observation of coexistence of CCx and SCD in this case suggests the intriguing possibility of shared genetic contributions in both entities and provides opportunities for improved prognostic assessment and early therapeutic intervention in CCx patients.The authors would like to thank Dr. Abdulkader Marwah Mohammed, a pathology consultant, for her valuable assistance in obtaining the microscopic pathology images. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.Investigation: Abdulrahman Hamad Al-Abdulwahhab, AbdulAziz Mohammad Al-Sharydah, Sari Saleh Al-Suhibani, Hadeel Al-Shayji, Ibtihal Al-Saad, Wissam Al-Issawi.Resources: Abdulrahman Hamad Al-Abdulwahhab, AbdulAziz Mohammad Al-Sharydah, Sari Saleh Al-Suhibani, Hadeel Al-Shayji, Ibtihal Al-Saad, Wissam Al-Issawi.Writing – original draft: Abdulrahman Hamad Al-Abdulwahhab, AbdulAziz Mohammad Al-Sharydah, Sari Saleh Al-Suhibani, Hadeel Al-Shayji, Ibtihal Al-Saad, Wissam Al-Issawi.Writing – review & editing: Abdulrahman Hamad Al-Abdulwahhab, AbdulAziz Mohammad Al-Sharydah, Sari Saleh Al-Suhibani, Hadeel Al-Shayji, Ibtihal Al-Saad, Wissam Al-Issawi.


Portal vein thrombosis refers to complete or partial obstruction of the portal venous system, in the intrahepatic or extrahepatic venous tract or even in the splenic or superior mesenteric veins. This common and potentially fatal condition can develop in various clinical contexts, especially those of liver cirrhosis, hepatocellular carcinoma, and other solid tumors. Certain characteristics, such as the time since the onset of the thrombus (acute or chronic), its biology , the presence of collateral vessels, and the magnetic resonance imaging aspects, are important components of a thorough, careful analysis, as well as informing decisions regarding the appropriate therapeutic strategy. Here, we present a brief review of the anatomy of the portal venous system and a systematic approach to analyzing the condition, using a mnemonic . We discuss the various imaging methods and illustrate our discussion with images selected from the case files archived at our facility. Factors that compose the Virchow triad , especially liver cirrhosis and neoplastic conditions, primarily hepatocellular carcinoma (HCC), can predispose to portal vein thrombosis,3. The clinical presentation is quite variable, and patients can even be asymptomatic, which limits its diagnosis and classification when only clinical findings are considered.Portal vein thrombosis is the most common cause of prehepatic portal hypertension, classically defined as partial or complete obstruction of the portal vein lumen. Anatomically, it can occur in the intrahepatic or extrahepatic portal venous tract and can involve the superior mesenteric vein, the splenic vein, or both,5. When portal vein thrombosis is suspected, ultrasound is the first-line method, with an estimated accuracy of 88-98%, CT or MRI being used in patients with an inadequate acoustic window or when there is a need for better assessment of the extent of the thrombus and the portosystemic collaterals, as well as for the detection of abdominal neoplasms,5,6.Ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) are the imaging methods used in order to facilitate the diagnosis and classification of portal vein thrombosis, with rates of sensitivity and specificity ranging from 80% to 100%In this article, we present a systematic approach using a mnemonic . The objective is to enable a complete analysis of portal venous thrombosis, regardless of the imaging employed.,8. In the hepatic hilum, it divides into right and left branches, which insert into the liver, projecting a portal branch into the center of each hepatic segment . In some cases, the thrombus is hypoechoic or isoechoic, and, on color Doppler, there is an absence of blood flow in part or all of the lumen, as illustrated in ,11. In candidates for liver transplantation, calcifications in the portal vein should be actively investigated, because they indicate a more fragile vessel and can complicate the surgical procedure,5.On CT, the acute form of portal vein thrombosis presents as increased portal vein attenuation in the pre-contrast phase, a lack of enhancement after administration of intravenous contrast, and increased portal vein caliber, as shown in Total or partial filling defects in the portal venous system can be detected on MRI, especially in the portal phase. On T1-weighted images, acute thrombi can be isointense to the muscle tissue or hyperintense when newly formed, whereas they continue to show high signal intensity on T2-weighted images . Chronic. Tumor thrombosis is a common, well-reported complication of HCC and is considered one of the contraindications to liver transplantation, dramatically altering the treatment options and prognosis,4,5.Thrombi can be differentiated, in terms of biology or nature, as having a vascular or tumor nature. Vascular thrombi are usually secondary to slow flow in patients with cirrhosis, whereas tumor thrombi are related to invasion of a portal branch by a neoplasm. Despite the disparate pathophysiology, the two types can coexist, especially in patients with HCC. Neovascularization on CT is also highly specific and has been widely described as indicative of a tumor thrombus, which typically shows enhancement greater than 20 HU after contrast administration-14, as depicted in , as can be seen in On color Doppler, a tumor thrombus shows blood flow in its interior, with 100% specificity when the flow found is arterial (neovascularization), a finding that is absent in vascular thrombi.The absence of portosystemic collaterals and splenomegaly usually indicates acute thrombosis, although the presence of those signs does not automatically indicate chronic thrombosis, because they can be attributable to intrahepatic portal hypertension secondary to cirrhosis, as illustrated in The left gastric vein is responsible for the most common portosystemic shunt , and a l, as shown in , as depicted in In patients with portal hypertension, a recanalized umbilical vein can also be observed , as can , who demonstrated that tumor thrombi have signal intensity and apparent diffusion coefficient (ADC) values similar to those of the primary tumor, the signal being hyperintense on DWI, which shows restriction, and hypointense on the ADC map,6, as depicted in ,13,14.Diffusion-weighted imaging (DWI) can facilitate the qualitative and quantitative evaluation of portal vein thrombosis. The role of DWI in the differentiation between vascular and tumor thrombi was emphasized by Catalano et al.Because of its morbidity and the limitations of the clinical evaluation, portal vein thrombosis demands careful analysis by imaging methods. Important information should be extracted by the various imaging methods. By adopting the systematic ABCD approach, the data can be interpreted in a more careful and comprehensive manner.


Squamous papilloma is an exophytic overgrowth of the soft tissue that is associated with human papillomavirus infection. It is rarely reported in the literature and uncommonly located on the uvula. We report a rare case of a squamous papilloma located in the uvula. Despite the small size of the tumor, the patient complaints were significant to mass-related symptoms. In addition, related literature was reviewed and results were discussed.  Squamous papilloma is an exophytic overgrowth and projection of the soft tissue associated with human papillomavirus (HPV), with the function of the surrounding structures spared. It is usually benign and asymptomatic, appears as pedunculated, sessile or verrucous, and usually depends on its location ,2. SquamAn 18-year-old female, otherwise healthy, presented with a five-month history of dysphagia. She also reported a choking sensation, globus sensation, and frequent throat clearing. There was no history of fever, throat pain, or infectious symptoms. Constitutional symptoms were negative. Upon throat examination, a fine strand of tissue over 0.5 cm in length was found to extend from uvular tip inferiorly, ending in a small disc-like pedunculated mass (0.5 x 0.5 x 0.5 cm); the base of the uvula appeared to be clean. Excision was simple with the use of electrocautery, and the specimen was sent to the histopathology laboratory. Histopathologic evaluation showed papillary projections lined by hyperplastic squamous epithelium around fibrovascular cores Figure  suggestiAn extensive review of the literature was conducted utilizing the Boolean operator of the PubMed database search engine. The following MeSH terms were used: squamous, papilloma, HPV, uvula, oral cavity, pharynx, larynx, epiglottis. A total of eight related studies were found and analyzed Table . The genAccording to the World Health Organization’s current classification, oral squamous papilloma is a benign exophytic, hyperplastic, localized proliferation with a verrucous or cauliflower-like morphology. Its base may be pedunculated or sessile .The squamous papilloma usually presents as asymptomatic for years, but if it is symptomatic, it could present with some or all of the following related symptoms according to its location and size: dysphagia, sore throat, odynophagia, voice quality change, referred otalgia, neck mass, globus sensation, dysarthria, trismus, a palpable discomforting mass, and decreased tongue mobility .Whether the mass is symptomatic or asymptomatic mainly depends on its nature, size, shape, consistency, stage, site, and risk factors of the patient. In this case, the patient’s mass was considered small , though her symptoms were severe enough to cause her discomfort. This does not follow the usual presentation; however, other causes of the symptoms were ruled out.The true prevalence of squamous papilloma in the oral cavity and oropharynx is not well known; nevertheless, it must not be neglected: recent report describes an incidence of 6.39% of squamous papilloma among all oral benign tumors, predominantly in females, the majority in their second, third, and fourth decades. Local studies to define the magnitude of squamous papilloma in Saudi Arabia are notably lacking .Squamous papilloma can be found anywhere in the upper aerodigestive tract, most commonly on the tonsils and on the base of the tongue. They are found to a lesser extent on the hard palate, tip of the tongue, gums, epiglottis, pharynx, and uvula .Such lesions are mostly associated with HPV infection, most commonly P16, which is a dsDNA virus that infects stratified squamous epithelium. Moreover, it affects both oncogenes E6 and E7, which are responsible for malignancies in both the anogenital and head and neck areas. E6 binds and inactivates p53 TSG, while E7 binds and inactivates the retinoblastoma protein, leading to the release of the E2F transcription factor, thus causing cell cycle progression [Histologically finger-like projections of fibrovascular tissue covered by hyperkeratotic benign stratified squamous epithelium and a marked granular cell layer are observed. Koilocytes are usually seen in lesions of short time of growth. In addition, small lymphocytic inflammation foci can appear at the base of the lesion, which are often not seen unless the lesion is subjected to repeated trauma or other irritations .Provisional diagnosis is made within the clinical setting using various techniques such as immunohistochemistry and molecular analyses. However, confirmatory diagnosis requires a biopsy and further histopathological evaluation . DiffereThe treatment of choice is complete surgical excision including the base of the lesion and a small marginal area to prevent recurrence. The use of laser treatments has also been proposed to eliminate oral squamous cell papilloma, rather than the surgical scalpel .Bivalent and quadrivalent HPV vaccines have been included in the national immunization programs of at least 26 nations. The recent progress in biotechnology, immunotherapy, molecular biology, and recombinant DNA technology, along with alternative and complementary medicinal systems, has created novel methods and valuable opportunities to design and develop effective prophylactic and therapeutic vaccines and medication to effectively counter HPV .Minimal progression and reduced local-regional failure indicate a better prognosis. There are many types of HPV, but in the case of squamous papilloma, HPV type 16 is the primary causative agent .Of the nine cases of squamous papilloma found based on extensive literature review, squamous papilloma on the uvula is uncommon and rarely reported. In addition, despite the small size of the tumor, the patient complaints were significant to mass-related symptoms.


Urothelial carcinoma (UC) is the fourth most frequent tumor in Western countries and upper tract urothelial carcinoma (UTUC), affecting pyelocaliceal cavities and ureter, accounts for 5–10% of all UCs. Computed tomography urography (CTU) is now considered the imaging modality of choice for diagnosis and staging of UTUC, guiding disease management. Although its specificity is very high, both benign and malignant diseases could mimic UTUCs and therefore have to be well-known to avoid misdiagnosis. We describe CTU findings of upper urinary tract carcinoma, features that influence disease management, and possible differential diagnosis. Urothelial carcinoma (UC) is the fourth most frequent malignancy in Western countries, with a peak incidence in elderly (70 to 90-year-olds) and a three-fold man prevalence. Upper tract urothelial carcinoma (UTUC) accounts for 5–10% of all UCs , with doLocal symptoms of UTUCs, represented by flank pain or lumbar mass, are usually due to advanced disease, while systemic symptoms like fatigue, fever, and weight loss are related to metastatic progression. Hematuria, either microscopic or visible, is the most common and early symptom of UC, and requires prompt investigation. In patient with positive cytology but negative bladder cystoscopy, a UTUC is highly suspected, and so an upper tract evaluation is needed. Flexible ureteroscopy allows direct visualization of ureter, renal pelvis, and collecting system, with the possibility of direct biopsy or aspiration cytology, but it is considered quite invasive. Among imaging techniques, computed tomography urography (CTU) offers the highest accuracy in UTUC diagnosis, with a pooled sensitivity of 92% and a pooled specificity of 95% ,4. OtherCT Urography has to be tailored to clinical indication and could be performed with different protocols, including at least an excretory phase . An unenUpper tract urothelial cell carcinomas appear on unenhanced phase as soft tissue masses, with lower density than renal calculi, except for indinavir ones ,14,15,16Based on their morphology UTUCs may be differentiated in papillary tumors, flat lesions, and invasive carcinomas. Papillary tumors appear on CTU as single or multiple filling defects in the collecting system, varying from millimetric to broad basis wide tumors occupying the entire lumen ,16,17. WCTU findings help distinguishing organ-confined diseases from advanced ones, but infiltrative tumors are correctly diagnosed only in 67% of cases; this low performance is due to microscopic invasion, not visible at imaging, or to misinterpretation of inflammatory changes as tumor involvement . TherefoMany pathological conditions may mimic CTU appearance of UTUC, both benign and malignant. Some CTU features could help differential diagnosis, but they are not always sufficient and so further diagnostic work-up may be required. Among these lesions, hypertrophied papilla, clots, suburothelial hemorrhage, renal papillary necrosis, symmetric wall thickening of the urinary tract due to inflammation or encasement, cystic pyeloureteritis, urogenital tuberculosis, and fibroepithelial polyp are benign lesions that should be considered to avoid an unjustified invasive intervention. On the other hand, renal cell carcinoma and renal lymphoma may be mistaken for UTUC and receive incorrect treatment.Hypertrophied papilla, a benign anatomical abnormality, causes a pronounced concave impression on surrounding calyx that can mimic a filling defect in the excretory phase. The presence of a smooth contour with preservation of forniceal shape , along wBlood clots are usually caused by trauma, neoplasm, renal lithiasis and anticoagulant therapy. They commonly manifest as slightly hyperdense lesions on unenhanced phase, without enhancement after contrast medium administration; in the excretory phase, they can be more easily differentiated from UTUC, because commonly entirely surrounded by opacified urine . In doubSuburothelial hemorrhage is a rare condition with diffuse renal sinus wall thickening due to intraparietal bleeding, presenting with flank pain and hematuria. This condition is related to bleeding diatheses such as anticoagulant treatment and hematological disorders. In the contrast enhanced and excretory phases, the renal pelvic wall shows diffuse soft tissue thickening with lumen narrowing, easily mistaken for a UTUC. The unenhanced phase allows the correct differential diagnosis demonstrating hyperdensity of the urinary tract wall due to hemorrhagic components  26,27].,27.26,27Renal papillary necrosis (RPN), often presenting with hematuria, is due to an ischemic lesion involving the renal papilla; it is frequently associated with diabetes mellitus, sickle cell anemia, analgesic abuse and urinary tract infections . RPN is Pyeloureteral wall thickening with increased attenuation of the surrounding fat is not a specific sign of UTUC but may be present also with urothelial inflammatory diseases. Differential diagnosis is not always possible on the basis of imaging alone, and so clinical, laboratory, and, sometimes, pathological findings have to be considered to decide proper management. The involvement of a longer part of the urinary tract is usually related to a benign disease, while UTUC is often associated with a shorter segment localization ,12. OtheRetroperitoneal fibrosis (RF) is a fibro-inflammatory disease characterized by the development of fibrotic tissue in the retroperitoneum; it could be idiopathic, associated to abdominal aortic aneurism, or secondary to other diseases. RF can cause ureteral encasement with obstruction and hydronephrosis. On CT it appears as enhancing solid tissue, generally isodense to muscle, that develops around the abdominal aorta, causing obscuration of fat planes, and medial displacement of the ureters  29]..29].Pyeloureteritis cystica is a benign disease due to chronic inflammation of the urinary tract, characterized by multiple subepithelial cysts, arising from degeneration of von Brunn’s nests. On unenhanced phase, the measurement of the attenuation coefficients of the cysts is usually not possible due to their tiny dimensions and, on excretory phase, they appear as multiple millimetric filling defects, often not detectable on nephrographic phase . The difUrogenital tuberculosis (UGTB) accounts for almost one third of extrapulmonary TB cases, and 3% of patients with TB develop renal manifestations . In the A fibroepithelial polyp (FP) is a benign ureteral lesion, consisting of a fibrovascular stroma, covered by a layer of urothelium. It usually presents with hematuria or flank pain, and with a CTU aspect of a solid mass inside renal pelvis or ureter, so the differential diagnosis with a papillary UTUC is challenging . The corRenal Cell Carcinoma (RCC) typically appears as an expansive mass with well-defined margins and it is easily differentiated from urothelial carcinomas. Nevertheless, infiltrative RCCs could sometimes be difficult to distinguish from pyelocaliceal infiltrative UTUCs. Both malignancies show early contrast enhancement. However, the reniform shape is usually preserved in infiltrative tumors of the excretory tract, whereas a contour expansion can be seen in RCCs  14,16,3,316,34.Extranodal spread of lymphoma often involves the urinary tract, but primary renal lymphoma without systemic disease is quite rare. Lymphomatous tissue could develop from renal capsule or perinephric and hilar fat, determining a vascular encasement and renal sinus involvement. It presents as a homogeneous soft-tissue lesion on non-enhanced CT with poor enhancement after contrast injection due to its hypovascularity, helping differential diagnosis with typical hypervascular RCCs and UTUCs. Lymphoma of the renal sinus could mimic the infiltrative pattern of UTUC, but lymphomatous tissue, due to its pliable nature, generally do not alter urinary tract shape nor causes hydronephrosis  16,35,3,335,36.Computed tomography urography is a very useful tool in diagnostic workup of suspected upper urinary tract carcinoma. Some CTU features help to differentiate low-risk tumors from high-risk ones, leading to proper management. However, imaging findings could be nonspecific, and only the knowledge of possible UTUC mimickers guides a correct differential diagnosis, avoiding mistreatment.


Introduction: Pheochromocytomas (PCCs), paragangliomas (PGLs), ganglioneuroblastomas (GNBs), and ganglioneuromas (GNs) are neuroendocrine neoplasms (NENs) that were thought to share a common embryologic origin from neural crest cells. However, they rarely occur concurrently and recurrently. We describe the case of a 40-years-old woman with “composite PCC-GN” and multiple NENs and neuroblastic tumors.Case presentation: The patient was first referred to our department at the age of 15 years for paroxysmal hypertension, headache, sweating, and watery diarrhea. Her personal history included the diagnosis of a pelvic GNB with lumbar–aortic lymph node metastases at 11 months. Her family history was positive for cerebral glioblastoma multiforme (father). An abdominal ultrasound showed a right adrenal mass that histologically was a “composite adrenal PCC-GN.” The symptoms disappeared after surgery. At the age of 20 years, the symptoms returned: computed tomography (CT) and 131I-metaiodobenzylguanidine (MIBG) scintigraphy showed an inter-aortocaval mass, found histologically to be an inter-aortocaval PGL. Her symptoms reappeared again at 28 years: CT and magnetic resonance imaging revealed four left adrenal gland nodules, found histologically to be multifocal PCCs with some atypia. Genetic screening for VHL, RET, NF1, Tp53, SDHD, SDHB, SDHC, SDHAF2, SDHAF3, SDHA, and TMEM127 was negative. Mutational analysis of the MAX gene revealed the presence of a novel heterozygous variant, c299G>C  that the bioinformatics prediction programs defined as noxious and causative of pathology.Conclusion: This report represents the first description of a co-occurrence of multiple composite PCC-GN and neuroblastic tumors. The long timeline of the presentation of the NENs/neuroblastic tumors from infancy to adulthood requires a lifelong follow-up for this patient. Moreover, the importance of this case lies in the presence of a novel MAX gene variant deleterious, harmful, and causative of pathology, confirmed by Sanger sequencing and never been associated before with multiple composite PCC-GN. The present case underlines the importance of precision medicine and molecular diagnoses for hereditary pheochromocytomas and paragangliomas, suggesting that when they occur in early childhood, it is necessary to perform an extensive genetic investigation and a lifelong follow-up. Pheochromocytomas (PCCs) are chromaffin tumors arising from the adrenal medulla, while extra-adrenal chromaffin and non-chromaffin paraganglial tumors are classified as paragangliomas (PGLs) . PCCs, PNF1, RET, von Hippel-Lindau gene [VHL], SDHD, SDHC, SDHB, EGLN1/PHD2, KIF1, SDHA, IDH1, FH, HIF2, SDHAF2, and SDHAF3) are recommended when appropriate (131I-metaiodobenzylguanidine (MIBG) scintigraphy scan should be performed  with aggressive volume repletion associated with preoperative rapid-acting intravenous alpha-adrenergic antagonists and beta-blockers are the mainstay of treatment . Tumor eConventional external beam radiation therapy (cEBRT) or radiotherapy/radiosurgery (gamma-knife/cyberknife) is recommended for locally unresectable disease , 19, in SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes , headache, and sweating was referred in 1994 for paroxysmal hypertension. Her personal history included, at the age of 11 months, a GNB with lumbo-aortic lymph node metastases, which was surgically excised and then treated with chemotherapy, radiotherapy, and immunotherapy. Given the symptomatology, an endocrinological workup was performed showing normal 24-h urine vanillylmandelic acid (VMA) and total metanephrines. An abdominal ultrasound and adrenal washout CT scan demonstrated a 5.0-cm right adrenal lesion. The patient underwent abdominal surgery. The histological diagnosis was right composite adrenal PCC-GN. This diagnosis derives from the histological description of an alveolar pattern of round polygonal cells with an eosinophilic granular cytoplasm and spindle cells with a fasciculation pattern that were outlined by collagen fiber septa. The tumor cells showed round, pleomorphic nuclei with prominent nucleoli. The lymph nodes contained ganglioneuromatous tissue. After surgery, the symptomatology soon improved.Five years later, the patient presented with a recurrence of paroxysmal hypertension. Neuroendocrine tumor marker tests were positive for 24-h urinary total metanephrines , 24-h urinary catecholamines , and VMA (VMA urinary spot test: positive). Serum chromogranin A was also positive , while CEA , NSE , and alfa fetoprotein  were normal. An abdominal CT scan showed a 2.2-cm inter-aortocaval right mass. MIBG scintigraphy showed a distinct hot spot in that region . The patmultifocal left PCCs with some atypia. The macroscopic observation showed four adrenal nodules measured 18, 20, 25, and 27 mm that were enclosed in a thin capsule with a reddish-tan surface and having multiple hemorrhagic areas. Histologically, spindle cells were found in 30% of the neoplasm, with prominent nucleoli. The nodules were strongly positive for CgA and synaptophysin on immunohistochemistry. Large polygonal cells with eosinophilic granular cytoplasm and strong atypia were found in 40% of the nodule tissue. The Ki-67 proliferation index was >5%. There were no sustentacular cells. The symptoms disappeared and plasma and urinary catecholamines and 24-h urinary metanephrines returned to normal levels.Eight years later, the patient presented with a recurrence of paroxysmal hypertension. The endocrinological workup was positive for 24-h urinary total metanephrines , serum noradrenaline , and serum adrenaline . Serum CgA (260 ng/ml) and alfaFP (5.31 ng/ml) were also positive. CEA (3.00 ng/ml) and NSE (7.70 ng/ml) were normal. Adrenal washout CT scans showed four non-adenomatous left adrenal masses between 10 and 18 mm . AbdominThe patient is currently in good health. She is in follow-up with no evidence of metastases and recurrence. The trend of NE markers over the course of the clinical history is shown in VHL, RET, NF1, Tp53, SDHD, SDHB, SDHC, SDHAF2, SDHAF3, SDHA, TMEM127, and MAX genes in the Molecular Diagnostic Laboratory for Hereditary Tumors, Veneto Institute of Oncology, Padova and Genetic Ames Group Laboratory, Naples, Italy. Mutation of the MAX gene was confirmed by Integrative Genomics Viewer (IGV), a high-performance visualization tool. Consequently, the MAX gene was also analyzed for intragenic mutations by Sanger sequencing.Next-Generation Sequencing was performed for VHL, RET, NF1, Tp53, SDHD, SDHB, SDHC, SDHAF2, SDHAF3, SDHA, or TMEM127. In the MAX gene, a novel heterozygous variant, c299G>C , was found. This variant of germline mutation  was analyzed with the bioinformatics prediction programs “Sift,” “PolyPhen,” and “Mutation Taster” at Genetic Ames Group Laboratory, Naples, Italy. See No mutations were found in The lesson from this case report highlights several important messages.RET-positive patients with MEN2B and also in SDH mutated patients , with the tumors.In this view, the second message of scientific interest is represented by the association of the new described MAX gene mutation and composite PCC with a ganglioneuromatous component has never been described in the literature, while just one composite case has been described involving PGL, in an adolescent who had been successfully treated for a stage IV-S neuroblastoma 15 years earlier  gene are considered a major genetic predisposition factor for the development of hereditary PCC and/or PGL , all proved negative. Furthermore, SDH gene mutation analyses performed to explore PGL context  was reported by Shibata et al. (MAX mutation c.296-1G>T (NM_002382), which has not been previously described  is currently unknown , while in our case, the first presentation was in infancy. This is a crucial point in relation to MAX mutation carriers. If this mode of inheritance was confirmed, disease is only passed on to children by their father, resulting in the phenomenon of generation-skipping. In this view, it would be even more important to analyze whether the mutation was transmitted to the patient's son, who would be able to transmit the disease to the offspring as well as the MAX genetic mutation , associated with the occurrence of multiple and composite PCC/neuroblastic tumors, occurred yet from infancy in a young women. The molecular mechanism of the MAX gene and the impact of MAX mutations require thorough investigation, to enable the prognosis of affected patients to be promptly established and targeted treatments to be developed.In conclusion, we describe, for the first time, a novel heterozygous The patient gave her written consent to sample collection, genetic testing, and the use of genetic test data for the purposes of research. The sample collection and preparation protocols were approved by the Department of Experimental Medicine Sapienza University of Rome, Italy. Institutional review board review and approval was not required for this case report. Consent for publication has been obtained from the patient, including permission for the details/images to be available on the Internet and viewable by the general public.MAX gene mutation in this patient in 2011. CP, FSe, AF, and EG co-wrote the manuscript. VB, AI, and AL contributed to the revision of the manuscript. All authors have read and approved the final manuscript.EG, CP, and FSe conceived and designed the study. FSe, CD, ES, and RP collected the clinical samples and analyzed and interpreted the patient's data. FSc carried out the genetic analyses that first demonstrated the presence of the The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer MP declared a past co-authorship with one of the authors FS to the handling editor.


Soft tissue tumors are not uncommon in childhood and comprise entities that range from common to very rare malignancies. Infantile fibrosarcoma (IFS) is a rare pediatric malignancy mainly seen in the first two years of life. The data about the incidence of infantile fibrosarcoma occurring in the neck in the Indian subcontinent is scarce. To the best of our knowledge, only one case of infant cervical IFS has been reported previously in the Indian subcontinent. We present another case of an eight-year-old male patient with a rapidly growing mass on the left side of the neck. He was successfully treated with a combined modality of surgery and chemotherapy with a good outcome. Among the soft tissue tumors of childhood, IFS is a rare entity. It has a good prognosis and lesser chance of distant metastasis as compared to adult fibrosarcoma. Though surgical excision is the mainstay of treatment, chemotherapy also has a significant role in the treatment of primary tumor and metastasis. We discuss the stated case to bring to the notice this uncommon cause, which can be considered as a differential diagnosis of upper cervical swellings. A better understanding of this entity would help in early diagnosis and aggressive treatment, reducing the overall morbidity and mortality. Soft tissue sarcoma accounts for 5-15% of all the malignancies seen in pediatric patients.Among the non-rhabdomyosarcomas, fibrosarcoma is the commonest entity, accounting for about 24.5% of the non-rhabdomyosarcoma seen in Pediatrics. However, fibrosarcoma is more common amongst adults in comparison to children.-In Pediatrics, the presentation of fibrosarcoma is seen in two peaks of age. In the early infancy below the age of one year, and the other peak in children above 5 years of age.The reported incidence of IFS in the head and neck region is 27% of all cases of IFS.An 8-year-old child presented with a rapidly progressive swelling in the left upper cervical region for 20 days 1B. It waThe contrast-enhanced magnetic resonance imaging (CEMRI) revealed a well-defined lobulated mass lesion measuring 4.7 x 4.12 x 6.22 cm in the left superolateral aspect of neck epi-centred at the pre-styloid compartment of the left parapharyngeal space. The lesion was heterogeneously hyperintense to the muscle with a few cystic areas on T2WI and hypointense on T1WI. The lesion abutted the lateral and medial pterygoid muscles, distal external carotid artery with the narrowing of the left internal jugular vein. Posteriorly it displaced the left sternocleidomastoid muscle and the posterior belly of digastric muscle laterally without any infiltration. Inferior extension into the submandibular space without any infiltration was noted. Laterally it displaced the parotid gland 2B. With For further evaluation, a fine needle aspiration cytology was done, which showed clusters as well as singly lying bipolar spindle cells with fine, granular chromatin and occasional multinucleated polygonal cells, consistent with a reactive myofibroblastic and fibroblastic proliferation (nodular fasciitis) or spindle cell tumor. A Based oThe patient underwent surgical excision of the tumor via transcervical approach B.The surgical specimen measured 6.5 x 5.5 x 5.0 cm, including a surrounding cuff of tissue. The tumor appeared like a globular proliferating growth of 3.0 x 4.0 x 3.0 cm, which was of firm consistency. An intraoperative frozen section revealed fibrocartilaginous tissue with areas of infiltration by spindle and polygonal cells with hyperchromatic nucleus suggesting a poorly differentiated tumor. The tumor was excised with possible widest margins, in view the proximity with vital structures. The postoperative pathological report revealed cellular spindle cell tumor arranged in fascicle, showing herringbone-pattern like appearance. Tumor cells were seen infiltrating the subcutaneous fat and the skeletal muscles. 4B The tuThe patient was discharged after 7 days of surgery. He was referred to medical oncology for further management, where chemotherapy was planned given the proximity of the tumor to the resected margins.,Tumors of soft tissue are commonly seen in childhood,Sarcomas are spindle cell malignancies of mesenchymal cell origin and are named and classified after the predominant cell line that is present. For example, in the bone (osteosarcoma), cartilage (chondrosarcoma), smooth muscle (leiomyosarcoma), skeletal muscle (rhabdomyosarcoma) and fibroblast (fibrosarcoma). These tumors vary considerably in presentation, treatment, and prognosis. At the same time, there are characteristics shared by many sarcomas. Since all are connective tissue in origin, they are called soft tissue tumors.-Conventional fibrosarcoma show bimodal age distribution with adult and Infantile types. Fibrosarcoma is an intermediate-grade tumor. Though, histopathologically similar, IFS exhibit a predominantly benign course in sharp contrast to its adult counterpart. The reported incidence of IFS is less than 0.2 cases per million in the pediatric age group.,The histologic features of these lesions do not always correlate well with clinical behavior. Histopathologically, it is characterized by densely arranged cellular spindles with a high proliferative index with areas of necrosis arranged in an intersecting bundle with a herringbone pattern. The tumor cells have a variable fibroblastic and myofibroblastic ultrastructure and a nonspecific immunophenotype with substantial positivity for Desmin and actin. IFS is characterized by the recurrent translocation t   with the transcript ETV6-NTRK3Clinical presentation of infantile fibrosarcoma is usually a rapidly progressing mass involving trunk or extremities, which can often give a grotesque appearance to the child. These tumors are rare in the head and neck and often present as neck swelling, which significantly increases in size in a few days. The swelling can cause compressive symptoms due to the mass effect. Though rare, these tumors can present as metastatic disease. For diagnosis, various imaging modalities are available, which are chosen according to the involved site. Fine needle aspiration cytology can be performed as a preoperative workup. For ruling out metastasis chest radiograph, abdominal ultrasound, computed tomography, and bone scan can be performed.Early diagnosis of IFS in the pediatric population can reduce morbidity and mortality. Surgical resection of the primary tumor is the mainstay of treatment. The current management of IFS has evolved to include initial biopsy and chemotherapy with delayed conservative resection planned after tumor shrinkage.IFS is a rare tumor amongst the pediatric population and head & neck is an uncommon site of its presentation. The disease is life-threatening. It may pose a diagnostic and therapeutic challenge because of the varied spectrum of clinical features and histopathology. Immunohistochemistry and histopathology are the main aids to diagnosis apart from the clinical behavior of the pathology. It should be kept as a differential diagnosis as prognosis is better compared to its adult counterpart.


Multiple endocrine neoplasia type 1 (MEN1) or Wermer’s syndrome is a genetic disease characterized by involvement of multiple endocrine glands, primarily involving parathyroid, pancreas, and pituitary. Other additional features include foregut carcinoids; non-functioning adrenal tumors; and skin lesions such as lipomas, collagenomas, and angiofibromas. Here, we describe our experience in managing a patient who presented to us with spontaneous episodes of hypoglycemia and was diagnosed with insulinoma. Detailed clinical and biochemical evaluation unraveled the diagnosis of MEN1 in the patient and her family members who constituted a large kindred. This case highlights the importance for evaluation of MEN1 in a patient or his/her family members in the setting of clinical and biochemical suspicion. In addition, we have also discussed the utility of the latest diagnostic and therapeutic modalities for management of MEN1. Multiple endocrine neoplasia type 1 (MEN1) or Wermer’s syndrome is a genetic disease caused by inactivating mutation of MEN1 gene. It is characterized by parathyroid, pituitary, and pancreatic neoplasms. In addition, other features include foregut carcinoids; non-functioning adrenal tumors; skin lesions such as lipomas, angiofibromas, and collagenomas. Most of the mutations are germline, but sporadic and de novo mutations can also occur. The disease affects all age groups from five to 80 years. Most of the manifestations are evident by the fifth decade of life. The clinical manifestations of MEN1 are related to the tumor site and the hormonal products released. In the absence of treatment, mortality rate is 50% by 50 years of age  and history of renal stones  . Serum iA suspicion of MEN1 syndrome was made, which was later confirmed by positive screening test for MEN1 gene mutation (Deletion: c.824-832delGGTACCCCA in exon 5 of MEN1 gene on whole gene sequencing).For evaluation of PTH-dependent hypercalcemia, she underwent technetium-99m SESTAMIBI scan that revealed involvement of three parathyroid glands  Figures , 2B. HowFor evaluation of hyperinsulinemic hypoglycemia, she underwent multiphase contrast-enhanced computed tomography (CT) of abdomen that revealed two mass lesions in the pancreatic head and tail, respectively Figures , 3B.Patient also underwent Ga-68-DOTANOC positron emission tomography (PET)/computed tomography (CT) that revealed somatostatin receptor (SSTR) expressing lesions in the head of the pancreas (1.6 cm x 1.5 cm) and tail of the pancreas (3.2 cm x 2.2 cm) Figures -4C. She For evaluation of pituitary disease, she underwent an MRI sella that revealed a 9-mm pituitary adenoma Figures , 5B.She underwent removal of all parathyroid glands, cervical thymectomy, and auto-transplantation of normal parathyroid tissue into left forearm. Postoperatively, she was managed with calcium supplements and calcitriol. She also underwent total pancreatico-duodenectomy along with splenectomy. Post-surgery, glycemic control was achieved with insulin. Exocrine functions were managed with pancreatic enzyme supplements. For prolactinoma, she was started on tablet cabergoline 0.5 mg twice a week.Histopathology of parathyroid specimens revealed parathyroid hyperplasia, while that of pancreatic specimen revealed well-differentiated neuroendocrine neoplasm, grade 1 (G1), with multiple multicentric microadenomas . Patient was counseled regarding the importance of regular follow-up. Investigations and their intervals were planned as defined for MEN1 patients .Her brother, who was a 42-year-old male, also had symptoms suggestive of spontaneous hypoglycemia corrected by intake of carbohydrate diet and acromegaloid habitus. He too was admitted for evaluation and was found to have acromegaly with pituitary macroadenoma, primary hyperparathyroidism with adenomas in all the four parathyroid glands, and hyperinsulinemic hypoglycemia with multiple insulinomas. He too underwent total parathyroidectomy along with auto-transplantation of normal parathyroid tissue in non-dominant forearm, with cervical thymectomy. For pituitary macroadenoma, he underwent trans-nasal trans-sphenoidal surgery (TNTS) with uneventful recovery. However, he refused to undergo pancreatic surgery and instead resorted to medical therapy with frequent, low carbohydrate meals.MEN1 is usually inherited as an autosomal dominant condition with a high degree of penetrance but can also be sporadic . MEN1 caIn our patient, the presenting complaint was that of hyperinsulinemic hypoglycemia, which was evaluated and diagnosed to be a case of multiple insulinomas. However, on detailed history she also had complaints directing toward involvement of other endocrine glands. Subsequently, she was evaluated and found to have primary hyperparathyroidism (PHPT) and prolactinoma. This case underlines the importance to look for symptomatology or biochemical clues suggestive of MEN1 syndrome when the patient presents with one of the MEN1-associated endocrine tumors. She, however, did not have other traditional hallmarks of MEN1 such as lipoma, collagenoma, angiofibroma, foregut carcinoid, or adrenal lesion.Pre-operative imaging of pancreatic NET (neuro-endocrine tumor) not only aids in the diagnosis but also improves the success rate of surgery. Our patient underwent a structural imaging (triple-phase CT abdomen) as well as a functional imaging (Ga-68-DOTANOC study) for the localization of insulinoma. However, in MEN1, concurrent pancreatic NETs pose a challenge for the correct localization of the insulinoma. Endoscopic ultrasound remains a valuable pre-operative diagnostic tool for detection of pancreatic tumors, even up to 1-2 mm, which are otherwise undetectable by CT/MRI . It is aWhile evaluating for PTH-dependent hypercalcemia, technetium-99m SESTAMIBI scan revealed adenomas in three parathyroid glands. On the contrary, 4D CT and 4D MRI revealed adenomas in all four glands. This does highlight the pitfall of technetium-99m SESTAMIBI scan as it provides false negative results in case of parathyroid hyperplasia or multiple parathyroid adenomas ,11 can hMRI of the sella turcica revealed pituitary adenoma in our patient. Prolactinomas are the most common pituitary tumors in MEN1, and the same was observed in our patient, corroborating with clinical and biochemical presentation.Clinical diagnosis of MEN1 was confirmed by genetic analysis in our patient. MEN1 gene on chromosome 11q13 encodes a 610-amino acid protein termed menin. Menin mediates stimulatory or inhibitory effects on numerous transcription factors by epigenetic mechanisms. Menin may act as a tumor suppressor or an oncogene depending upon its interaction with different proteins. Many proteins involved in DNA damage-dependent cell cycle arrest or subsequent DNA damage repair are dependent on the co-presence of functional menin .Diagnosis of MEN1 and further confirmation by genetic analysis have many implications. MEN1-associated tumors differ from non-syndromic tumors in various aspects that are enlisted in Tables We have described a case of multiple endocrine neoplasia type 1 (MEN1) syndrome who presented to us with episodes of spontaneous hypoglycemia. The diagnosis of MEN1 syndrome in our patient led to the discovery of a large kindred being affected with the same disease. This underlies the importance for searching for MEN1-related tumors and genetic screening in family members on the basis of clinical and biochemical suspicion.


A 49-year-old asymptomatic man presents for a vasectomy evaluation. His past medical history is noncontributory, and his family history is remarkable for prostate cancer in his father. On genitourinary examination, his left testicle is notably larger than his right testicle, with concern for a firm, nontender upper pole mass palpated on the left side. Scrotal ultrasound is performed and reveals numerous hypoechoic masses within the left testicle  and a noThere is no evidence of angiolymphatic invasion or extension of this pathology beyond the tunica albuginea. Pre-operative tumor markers are as follows: lactate dehydrogenase (LDH) 204 IU/L [normal range 120–240 IU/L], alpha-fetoprotein (AFP) 3.3 ng/mL [normal range <7.9 ng/mL], β-human chorionic gonadotropin (β-hCG) <2 mlU/mL [normal <5 mIU/mL]. Chest x-ray and CT scan of the abdomen and pelvis reveal no lymphadenopathy or evidence of metastases.A. Leydig cell tumorB. Non-seminomatous germ cell tumor (NSGCT)C. SeminomaD. Testicular lymphomaB. Non-seminomatous (mixed) germ cell tumor (NSGCT)Testicular neoplasms are uncommon, with 8,820 new cases estimated to arise nationwide in 2014 .This patient’s pathology revealed 80% seminoma  and 20% The clinical stage of NSGCT holds prognostic value and directs management. The American Joint Committee on Cancer (AJCC) staging criteria rely on histopathology, tumor markers, and nodal or metastatic involvement on imaging.5 Tumor markers are useful in diagnosing GCTs and monitoring for inadequate treatment or recurrence; however, normal levels do not exclude GCTs. In this patient, the lack of angiolymphatic invasion or extension beyond the tunica albuginea classifies his pathologic stage as pT1 [The optimal post-orchiectomy management for clinical stage I NSGCT remains controversial. While orchiectomy is curative in 70–80% of stage I NSGCT , retropeThe patient recovered uneventfully from his orchiectomy. He opted for active surveillance and demonstrated no evidence of relapse on CT imaging with normal serum tumor markers one year following his surgery.


Lymphangioma is a benign malformation of the lymphatic system and is often found in the neck and axilla, the orbit, the mediastinum, etc. However, isolated splenic lymphangioma is a rare disease in young women, and its treatment is controversial. We report a case of laparoscopic partial splenectomy for isolated splenic lymphangioma in a young woman.An 18-year-old woman with mild epigastralgia was admitted to a nearby hospital. Abdominal ultrasound detected a 6-cm mass confined to the upper pole of the spleen; thereafter, she was referred to our department for surgical treatment. Although a benign tumor, we decided to resect it because of her symptoms. To preserve part of the normal spleen, laparoscopic partial splenectomy was performed with a co-axial approach using four ports and a liver retractor in the lithotomy position. After dissection around the spleen hilum, we identified that the tumor was being fed from the splenic vessels of the upper pole and severed the branch. Postoperatively, the patient showed no complications and was discharged on postoperative day 8 without symptoms. Pathological examination revealed splenic lymphangioma, which is rare in young women. No recurrence was seen 1 year after surgery, and a computed tomography scan showed no problems with the remaining spleen.In our experience of laparoscopic partial splenectomy for a young woman with an isolated splenic lymphangioma, we determined that laparoscopic partial splenectomy is a safe, effective, and valuable option for the treatment of benign splenic tumors. Lymphangioma is a benign malformation of the lymphatic system and is often found in the neck and axilla, the orbit, the mediastinum, the adrenal gland, the kidney, the bone, the omentum, and the gastrointestinal tract . HoweverThe patient was an 18-year-old woman with mild epigastralgia who was admitted to a nearby hospital. An abdominal CT scan showed a 60-mm mass confined to the upper pole of the spleen; therefore, she was referred to our department for surgical treatment Fig. . After pLymphangioma is a congenital benign disease often found in patients aged up to 2 years. But it can also be seen in young women, with 75% occurring in the neck, 20% in the axilla, and rarely in the abdominal organs , 2. TherOther organs are often reported to be involved in the alleged lymphangiomatosis syndrome, which can occur in patients with Klippel-Trenaunay syndrome , 16, 17.Although total splenectomy (TS) has been traditionally performed for benign splenic tumors, incidents of serious complications have been reported. In particular, overwhelming post-splenectomy sepsis (OPSS) is the most severe and specific complication after TS, occurring in up to 5.7% of patients after the procedure and has a mortality rate approximately 600 times greater than that of the general population , 19. TheIn recent years, with the popularization of laparoscopic surgery, there are reports on laparoscopic PS (LPS) for benign splenic tumors. A systematic review of 187 LPS cases  showed tTo preserve the function of the spleen, we chose LPS for benign tumors confined to the upper side of the spleen this time. If the tumor is in the splenic hilum, it may be necessary to perform TS because it is challenging to preserve blood flow in the normal spleen. We clamped the upper pole branch of the splenic vessels once and confirmed that the blood flow in the normal spleen was maintained and then cut off the upper pole branch. According to a previous report, it is crucial to dissect the ischemic parenchyma 1 cm away from the demarcation line to reduce bleeding . We usedIn our experience with LPS in a young woman with an isolated SL, we determined that LPS is a safe, effective, and valuable option for the treatment of benign splenic tumors.We report surgical treatment for a rare case of isolated splenic lymphangioma in a young woman. We thought that LPS is a feasible option for the treatment of benign splenic tumors because it is important to preserve the function of the spleen in younger patients.


Spontaneous or self-induced pneumoparotid, which usually manifests as acute unilateral gland enlargement, is caused by insufflation of air from the oral cavity via Stensen’s duct. A 9-year-old patient, with known Down’s syndrome, presented with a progressively enlarging, painless, spontaneous, left neck mass. Computed tomography showed features consistent with pneumoparotid, without underlying associated pathology. Identification of true cases of spontaneous pneumoparotid is crucial, as these require a holistic management approach to prevent recurrence and complications. Self-induced or spontaneous pneumoparotid, usually manifesting as acute unilateral enlargement of the parotid gland, is caused by the insufflation of air from the oral cavity via Stensen’s (parotid) duct. It is a rare but well-described condition and should be considered in cases of unexplained parotid swelling. Occasionally, this phenomenon may only be detected on investigation of associated complications, making clinical diagnosis challenging. Often, the condition will only be diagnosed after radiological imaging. Given that conservative management and behavioural modification is the mainstay of care in uncomplicated cases, accurate and timely radiological diagnosis is essential to prevent unnecessary surgical intervention and guide appropriate management of subsequent complications.A 9-year-old female patient, known with Trisomy 21, presented to the Ear, Nose and Throat (ENT) clinic with a large left-sided neck mass; this mass was progressively enlarging over a period of 1 month and began as a painless and spontaneous swelling. Other than the pre-existing genetic anomaly, the child was healthy and thriving and had no documented medical co-morbidities, nor any history of recent dental procedures or hospitalisations. Clinical examination revealed a firm, non-tender mass lesion on the left side of the neck, extending from below the pinna of the left ear to the submandibular region. Systemic examination was otherwise unremarkable, with no fever or other features of septicaemia. The overlying skin was intact, and no lymphadenopathy was palpable. Perfunctory ENT and oral examination were normal. Fine needle aspiration of the mass was attempted at the ENT clinic whilst awaiting laboratory results and radiological investigations, in an attempt to expedite the diagnostic process and to exclude sepsis. Only air was obtained. There was temporary subsidence of the mass post-aspiration, but it reformed within 24 h. Clinical assessment clearly suggested local surgical emphysema. Expeditious delineation of the cause and extent of the process was crucial, prompting the referring clinician to request a computed tomography (CT) scan of the head and neck to further delineate the lesion. Whilst awaiting imaging in the Radiology Department, the patient was observed to be voluntarily blowing up her cheeks and making other uncharacteristic buccal and facial movements.Non-contrast CT of the head and neck (performed with the patient under conscious sedation) demonstrated a circumscribed focus of subcutaneous surgical emphysema overlying the left parotid gland . No compNo fluid collections or masses of the head or neck were observed. Furthermore, there was no gas identified in the floor of the mouth, parapharyngeal spaces or deep soft tissue spaces of the neck. No foreign bodies or sialolithiasis was evident. The oral cavity, pharynx, larynx and trachea were unremarkable. The visualised lung apices and upper mediastinum showed no pneumothorax or pneumomediastinum.These imaging features are consistent with pneumoparotid, complicated by capsular perforation and overlying localised subcutaneous surgical emphysema, in the absence of underlying associated pathology.This article followed all ethical standards for a research without direct contact with human or animal subjects.1Pneumoparotid refers to the abnormal presence of air within the ducts and acini of the parotid gland and occurs when intra-oral pressure overwhelms the usual protective mechanism of the meatus of Stensen’s duct.2Since the initial report of air in the parotid gland by Hyrtl in 1865, a spectrum of different terminology has been used to denote the condition, including ‘pneumoparotitis’, ‘pneumoparotiditis’, ‘pneumosialoadenitis’, ‘wind parotiditis’, ‘anesthetic or surgical mumps’ and ‘pneumatocele glandulae parotis’. Current consensus is that the term ‘pneumoparotid’ should be used in the absence of inflammatory changes of the gland and ‘pneumoparotitis’ should be used in the presence thereof.4The pathogenesis of pneumoparotid starts with an abnormal increase in pressure in the oral cavity, which is normally as low as 2 mmHg – 3 mmHg. This rise in oral pressure leads to the reflux of air into Stensen’s duct and subsequently into the ductal system of the parotid gland. If the intraductal pressures become sufficiently high, breakdown of glandular tissue can occur, leading to leakage of air into the surrounding soft tissue spaces and surgical emphysema if perforation of the parotid fascia occurs. Infrequent complications that can develop in the setting of large volume or continuous leakage of air from the gland are pneumomediastinum, pneumothorax and airway obstruction because of focal collections of air. In addition, oral bacteria may also reflux, predisposing to recurrent episodes of parotitis, termed ‘pneumoparotitis’, which can lead to ductal ectasia if chronic, or associated abscess formation.4The aetiology of pneumoparotid is commonly divided into occupational and non-occupational categories. Occupational causes are most commonly glassblowing or the playing of wind instruments , as well as during rapid compression manoeuvres in scuba divers. Non-occupational causes are commonly iatrogenic, associated with dental procedures (in which devices powered by compressed air are used), and following anaesthesia, if the patient coughs during extubation while simultaneously receiving positive pressure ventilation. Cases of pneumoparotid post-pulmonary function testing have also been described. Pneumoparotid as a consequence of facial trauma is commonly encountered.4 Spontaneous pneumoparotid has been described after innocuous and common activities such as blowing up balloons, chewing gum, nose blowing or coughing, which are seen more frequently in individuals with underlying pathology such as cystic fibrosis. Self-induced pneumoparotid has also been reported in conjunction with psychiatric and psychosomatic disorders or because of an unintentional adjustment reaction to achieve secondary gains (such as avoiding school), especially in adolescents.4A phenomenon which is much less commonly documented is spontaneous pneumoparotid or self-induced pneumoparotid. In rare instances, this may be identified as the underlying primary cause and as a result of auto-insufflation of the gland. In the paediatric population, auto-insufflation is the most common cause of pneumoparotid.5 Underlying anatomical abnormalities such as ectasia of the parotid duct, buccinator muscle weakness or masseter hypertrophy may predispose to the development of pneumoparotid.3Usually, inherent protective anatomical mechanisms are in place to prevent reflux from the oral cavity into the parotid glands, including mucosal folds that seal off the ductal orifice, the small diameter of the ductal orifice itself and contraction of the buccinator muscle to close the duct. It has been proposed that in children Stensen’s duct has a more perpendicular insertion into the buccal mucosa than in adults, in whom the angle of insertion is more acute posteriorly. This allows a buccal mucosal fold to provide improved protection in adults against the retrograde air travelling in Stensen’s duct when intra-oral pressure is increased.4Mild cases of spontaneous pneumoparotid may go completely unnoticed unless complications occur. The condition may have a chronic course with intermittent, short-lived episodes of painless or painful parotid swelling, which may become evident on clinical history. Visualisation of an oedematous Stensen’s papilla, air bubbles coming from Stensen’s duct or foamy saliva after parotid gland massage and crepitus upon cheek or gland palpation may be identified with careful and thorough clinical examination.2 Ultrasound, as a first line of radiological investigation in the paediatric population, is a valid consideration because it will demonstrate air bubbles as intraductal, mobile, comet-tail artefacts. High-frequency ultrasound may be useful in delineating potential associated ductal alterations and calculi. Colour Doppler may demonstrate hypervascularity with parotitis.6 However, the extent, distribution and origin of the gas, as well as concurrent deep compartment complications, may not be readily apparent, and interpretation of the study may somewhat depend on the operator. Non-contrast CT is especially useful in this setting to demonstrate both air in the parotid gland and associated complications, whilst also ruling out underlying sialolithiasis. Magnetic resonance imagining (MRI) may show associated signal changes in the parotid gland related to complications, but air may not be easily identified.6 Chronic pneumoparotitis is usually associated with ductal dilatation and stricturing because of associated episodes of bacterial superinfection. In this instance, sialography typically shows a markedly dilated Stensen’s duct, but the use of invasive tests is discouraged because of potential complications.3Imaging can establish the diagnosis and delineate associated complications. Plain film and fluoroscopic studies will likely be normal or demonstrate only complications such as surgical emphysema or pneumothorax and may not be sufficient to delineate the underlying cause.4In most cases of spontaneous uncomplicated acute pneumoparotid, salivary gland enlargement resolves spontaneously within 1–3 days, with conservative management yielding good results. Yet, in paediatric cases – as described above – treatment of the underlying cause for the abnormal buccal manoeuvres which result in the auto-insufflation may be very challenging as the patient’s understanding may somewhat be limited.3Alternate treatment options such as antibiotics, anti-inflammatory drugs, glandular massage or sialogogues are usually reserved for cases with confirmed complications, such as sialadenitis. In the event that conservative measures fail, surgical intervention should be considered. Several surgical treatment options have been suggested for chronic and recurrent pneumoparotid, such as transposition of Stensen’s duct to the tonsillar fossa, ligation of the duct or superficial parotidectomy if chronic or recurrent infection occurs.Pneumoparotid and its associated complications can be accurately diagnosed radiologically, and CT should be considered as the initial investigation of choice. However, especially in the paediatric population, detailed history-taking and clinical assessment remain imperative to rule out any underlying causes. This allows for the identification of true cases of spontaneous pneumoparotid, which require a more holistic management approach based on behavioural modification and psychotherapy.


Desmoplastic fibroblastoma (DFB) is an uncommon, benign, soft tissue tumor. The tumor most often presents as a slowly growing, painless soft tissue mass and is usually small. There have been only a few reports of patients with DFB who presented with bone invasion. Herein, we report the case of a 66-year-old woman with DFB with bone invasion in her left axilla. A lump under the left axilla was detected and was associated with pain and limited range of motion (ROM) of the shoulder. Computed tomography showed a soft tissue mass with invasion of the adjacent left humerus. Magnetic resonance imaging revealed a lesion with low signal intensity on T1- and T2-weighted images, and weak internal enhancement on postcontrast T1-weighted images with fat suppression. Histologic evaluation of a preoperative needle biopsy revealed DFB with FOSL1 expression. The tumor was marginally excised. Postoperative outpatient follow-up demonstrated a significant improvement in pain and ROM of the shoulder and no recurrence after 1 year. Even though DFB with bone invasion can cause pronounced clinical symptoms with pain and limited ROM, we conclude that simple excision is an adequate treatment. Desmoplastic fibroblastoma (DFB), also known as collagenous fibroma, is a rare, benign, soft tissue tumor that was first described by Evans in 1995 . The vasα-smooth muscle actin, desmin, CD34, β-catenin, and S-100 (data not shown). The tumor was finally diagnosed as DFB and was marginally resected using a deltopectoral approach. The tumor was located in the patient's subscapularis muscle and invaded into the lesser tubercle of the left humerus, where a small cavity was observed after resection . Morphologically, there are some differences between desmoids and DFB. Desmoids are composed of uniform spindle-shaped cells and often form poorly defined fascicles within a collagenous stroma. The degree of cellularity is generally moderate. Desmoids infiltrate into the surrounding tissue, which may result in a high risk of local recurrence, even after margin-free resection. On the other hand, DFB is characterized by a paucicellular lesion with spindle- and stellate-shaped fibroblastic cells embedded in a hypovascular, densely fibrous stroma, which is why this lesion is also known as collagenous fibroma. Nevertheless, desmoid would have some resemblance to DFB. Indeed, in an early case series of DFB, desmoids were the most frequent initial pathological diagnosis registered in Soft Tissue Registry of the Armed Forces Institute of Pathology between 1970 and 1995 . TherefoA previous study reported that DFB lesions were predominantly subcutaneous, that one-quarter of cases involved the skeletal muscle, and that microscopically, most tumors infiltrated into subcutaneous fat and 27% extended into the skeletal muscle . FurtherWhile wide local excision with negative pathologic margins is the treatment of choice for most desmoids, simple excision is indicated for DFB. The prognosis of DFB is good despite its potential invasiveness. No local recurrence has been reported in any previous cases, including the 3 abovementioned patients with bone invasion .The present article reports a rare case of shoulder DFB with bone invasion. Preoperative biopsy is necessary to distinguish DFB from other large fibrous tumors with bone invasion, and FOSL1 may be helpful for the diagnosis of DFB. Even if DFB with bone invasion is symptomatic, accurate preoperative diagnosis can lead to simple excision.


Case report. A variety of complications are related to Meckel's diverticulum including bleeding, intestinal obstruction, but in adults, the most important complication is intestinal obstruction. We reported Meckel's diverticulum in a 92-year-old woman with symptoms of intestinal obstruction including abdominal pain, vomitus, and abdominal distention who referred to the hospital emergency. Imaging findings showed intestinal obstruction and laparotomy showed that the cause of intestinal obstruction was Meckel's diverticulum. Finally, Meckel's diverticulum was resected and the patient recovered.  Meckel's diverticulum is a vestigial remnant of the omphalomesenteric duct that in most cases (53%) is diagnosed in the first two years of life.  Intestinal obstruction because of a large Meckel's diverticulum in an elderly woman is rare and requires a high attention for diagnosis, and it is almost discovered by surgery. Meckel's diverticulum is a true diverticulum that includes all 3 coats of the small intestine. Meckel's diverticulum is a vestigial remnant of the omphalomesenteric duct . GeneralA 92-year-old woman was referred to the emergent department because of abdominal pain, vomitus, and abdominal distention that had started 3 days ago. The quality of abdominal pain was crampy in the periumbilical area and not radiated to any anatomic region. The last defecation and gas passing was 3 days ago. She had no fever. Her past medical and surgical history was clear. General appearance showed a very old woman and very slim body (weight: 38 kg), with a dry mucosal surface. Vital signs were normal. Other physical examination was norma,l and the abdomen had no tenderness, mass, and hernias on palpation. Also, the rectal exam was empty. Laboratory tests including complete blood count, creatinine, amylase, lipase, electrolytes, and cardiac enzymes were in normal limits. Upright and supine abdominal X-ray showed small bowel with air-fluid levels and dilated bowel loops Figures  and 2. IMeckel's diverticulum is a vestigial remnant of the omphalomesentric duct and is the most common congenital malformation of the gastrointestinal tract . Meckel'Meckel's diverticulum occurs in children, and it is rare in the adults. The most important complication of Meckel's diverticulum in adults is intestinal obstruction. Imaging findings for the diagnosis of intestinal obstruction due to Meckel's diverticulum have low diagnostic value. Surgery is a diagnostic method of Meckel's diverticulum that presents with intestinal obstruction.


Grynfeltt–Lesshaft hernia is a kind of lumbar abdominal wall hernia in which clinical presentations may vary from an asymptomatic bulge in the lumbar area to a symptomatic lumbar mass with back pain. It has been accepted to be a rare entity, and incarceration of the kidney through this hernia is shown to be very rare, and very few previous cases have been reported in this regard.We present a case of renal pelvic and ureteropelvic junction incarceration in a Grynfeltt-Lesshaft hernia and provide an overview of the existing literature on it.A 76-year-old lady presented to the outpatient clinic with the chief complaint of right flank pain and swelling. Computed tomography (CT) scan of the abdomen was revealed a large herniated sac (60*30 mm) in the upper lumbar triangle with protrusion of retroperitoneal and omental fat, right renal pelvis, ureteropelvic junction and proximal ureter with consecutive hydronephrosis. Herniated retroperitoneal and omental fat was reduced, and closure of the abdominal wall defect was done using retro-muscular Mesh and was fixed to the fascia. The patient was discharged 24 h after the surgery without any complications.Kidney herniation through the lumbar triangle is extremely rare, and the diagnosis requires careful clinical evaluation. CT scan is the modality of choice for the assessment. Management through surgery should be done in symptomatic patients. The lumbar abdominal wall hernia is uncommon. In this kind of hernia retroperitoneal  and intraperitoneal  elements bulge through a defect in the dorsal posterolateral abdominal wall (upper lumbar or the Grynfeltt–Lesshaft triangle) –6.The Grynfeltt-Lesshaft triangle is defined by the internal oblique muscle laterally, border of the erector spinae muscle group (quadratus lumborum) medially, the 12th rib superiorly, transversalis fascia aponeurosis on the floor, latissimus dorsi muscle on the roof , 8. The It’s more frequent in men between 50 and 70 years old and is more prevalent on the left side of the abdomen . Risk faMany surgeons are unfamiliar with lumbar hernias, which may cause a delay in the diagnosis of the disease , 7. ClinA lumbar hernia is an unusual defect, and only 300 cases of primary lumbar hernias have been reported since the first case report by Garangoet in 1731 , 14, 16.We present a case of renal pelvic and ureteropelvic junction herniation in a Grynfeltt-Lesshaft hernia and provide a clear overview of the existing literature on it.A 76-year-old lady presented to the outpatient clinic with the chief complaint of right flank pain and swelling that protrudes with efforts, reduced mostly in resting position and increasing in size for about 2 months before hospital admission  scan of the abdomen revealed a large herniated sac 60*30 mm) beneath the right 12th rib in the upper lumbar triangle with protrusion of retroperitoneal fat, right renal pelvis, ureteropelvic junction and proximal ureter with consecutive hydronephrosis extended to the posterior aspect of the kidney . Congenital hernias are seen in infants and children and are related to defects in the lumbar wall. Acquired hernias are divided into two groups: spontaneous (primary) hernias and secondary acquired hernias . FogartyTherefore, the majority of patients were female patients. The mean age of the patients was 65.33 ± 5.342 years (with a confidence level of 95%). Pain and swelling were the dominant symptoms reported in all the patients. The pain was accompanied by gross hematuria, acute renal insufficiency, and acute renal colic pain in one patient each. The right side was more involved seen in 4 cases. Physical examination was mentioned in 4 cases, of which tenderness was found in three. Past medical history was positive for abdominal aortic aneurysm in one patient. Hypertension, diabetes, and hyperlipidemia were seen in two patients. Hypothyroidism, hyperuricemia, right adrenal Cushing’s syndrome, left primary aldosteronism, right pelviureteric junction obstruction and overweight were found in one patient each retrospectively. Previous surgery history was positive in 4 cases. Laparotomy with partial right colectomy following a sharp injury, laparoscopic adrenalectomy, open right Anderson Hynes pyeloplasty and hysterectomy, laparoscopic cholecystectomy, and urinary bladder prolapse repair surgery was seen in one patient each retrospectively. CT scan was the modality used in all the cases. Intravenous urogram (IVU) was done in two patients, and an abdominal x-ray, mercaptoacetyltriglycine renal scan, and magnetic resonance imaging (MRI) were done in one patient each retrospectively. MRI was the dominant diagnostic modality used in a patient with post-laparoscopic adrenalectomy lumbar hernia. The kidney was protruded partially in all the patients. Beside, ureteropelvic junction, proximal ureter and retroperitoneal fat were seen in 2 cases each retrospectively. Urological complications were mentioned in 5 cases, of which pyelocaliectasis and hydronephrosis were seen in all the patients and ureteropelvic junction obstruction was seen in one patient.Two patients underwent non-surgical analgesic management. Surgery was done in 4 cases, of which opened hernioplasty was done in three and was not mentioned in one. In a study done by Vagholkar et al., an open approach was implemented , similarIn one case, hernioplasty was done following normalization of renal function through percutaneous nephrostomy tube, antegrade nephrostography, antegrade internal ureteral stent placement, and subsequent nephrostomy tube removal.To our best knowledge, this is one of the first reported cases and also the first literature review on acquired herniation of the renal pelvis and ureteropelvic junction through a Grynfeltt hernia with resultant hydronephrosis.Kidney herniation through the lumbar triangle is extremely rare, and the diagnosis requires careful clinical evaluation. CT scan is the modality of choice for the assessment. Management through surgery should be done in symptomatic patients. Both laparoscopic and open approach can be done for treating this illness; however, an open approach is an easier and safer method.


Schwannomas originate from Schwann cells, which are constituents of peripheral nerve sheaths, and can occur anywhere in the body at any age. Most occur in soft tissues such as subcutaneous tissues and muscles, occurrence in the abdominal cavity being relatively rare. In particular, schwannomas of the gallbladder are extremely rare. We herein report a rare case of a schwannoma that coexisted with systemic sarcoidosis and presented as a steroid-resistant mass in the gallbladder wall.A 40-year-old woman was found to have thickening of the gallbladder wall during a routine medical examination and was referred to our hospital, where she was found to have granular shadows in the lungs; mediastinal, cervical, intraperitoneal, and inguinal lymphadenopathy; parotid gland enlargement; and an erythematous skin rash. She was diagnosed as having systemic sarcoidosis by transbronchial lung biopsy and bronchoalveolar lavage. All her systemic mass lesions except for the one in the gallbladder resolved or became smaller with steroid treatment. The steroid-resistant gallbladder lesion showed enhancement on contrast-enhanced computed tomography and was shown by endoscopic ultrasonography to be a 30-mm-diameter gallbladder wall lesion. We performed laparoscopic cholecystectomy, which resulted in diagnosis of the steroid-resistant tumor as a schwannoma. Five months after surgery, the patient’s prednisolone dosage had been gradually reduced to 5 mg/day and she was doing well with no evidence of recurrence.Resection of a steroid-resistant tumor resulted in diagnosis of schwannoma, enabling reduction in the patient’s steroid dosage for sarcoidosis. Schwannomas originate from Schwann cells, which are constituents of peripheral nerve sheaths, and can occur anywhere in the body at any age . Most ocAn asymptomatic 40-year-old woman was found to have gallbladder wall thickening during a routine medical examination. There was no medical history except for uveitis with recent blurred vision. She was taking no medications and had no history of allergy. Her vital signs were unremarkable. On physical examination, cervical and inguinal lymphadenopathy, parotid gland enlargement, and an erythematous skin rash were detected. Soluble interleukin-2 receptor and angiotensin-converting enzyme concentrations were 2431 U/mL  and 27.6 U/L , respectively. Other laboratory data, including tumor markers such as carcinoembryonic antigen (CEA) and carbohydrate antigen 19-9 (CA19-9), were within the normal range. Abdominal ultrasonography revealed a hypoechoic mass (30-mm diameter) with no posterior echo enhancement on the abdominal side of the body of the gallbladder Fig. a. HistopWe here describe a patient with sarcoidosis and a coexisting schwannoma that presented as a steroid-resistant mass in the gallbladder wall. Intra-abdominal schwannomas have reportedly occurred in the intrahepatic duodenal ligament , pancreaSchwannomas arising in the digestive tract can be easily accessible to endoscopic biopsy, whereas it is difficult to obtain a biopsy of the gallbladder to make a definitive diagnosis . SchwannIn contrast, sarcoidosis is an inflammatory disease that is characterized by formation of granulomas  in the lungs, lymph nodes, and other organs. Sarcoidosis may be acute and resolve spontaneously, or be chronic and progressive . More thTo the best of our knowledge, no relationship between sarcoidosis and schwannoma has been documented. The differential diagnosis for both sarcoidosis and schwannoma is broad because of the nonspecific symptoms and diverse clinical presentations. Because many other diseases present with similar clinical, radiologic, and pathologic findings, infections and malignancy  should be ruled out if suspected .Our patient’s schwannoma was complicated by her coexisting systemic sarcoidosis, which is an extremely rare combination. Because all lesions except for the one in the gallbladder were responsive to steroids, it was resected to obtain an accurate diagnosis, the rationale being that if it was not a sarcoid lesion, we could reduce her dosage of steroids.In addition, in this case, the excised specimen showed a mixture of spindle-shaped lesions indicating a schwannoma and non-necrotic granulomatous lesions indicating sarcoidosis, which may have a component of neurosarcoidosis as reported by Bangiyev et al. .Schwannomas in the abdominal cavity, including in the gallbladder, are rare. We excised our patient’s steroid-resistant gallbladder mass to obtain a definitive diagnosis because she also had steroid-responsive systemic sarcoidosis. Excision provided an accurate diagnosis, resulting in more rational treatment.


Amyloid deposition in pancreas is rare. Lactoferrin amyloid deposition has not been reported in pancreas, till date. Presence of enhancing mural nodule in a cyst on imaging is a worrisome feature for malignancy, and warrants surgical resection in a surgically fit candidate, as per Fukuoka guidelines for management of cystic lesions in pancreas.We report a case of localized amyloidosis presenting as a mural nodule in a 1.6 cm cyst located in the head of pancreas, which led to pancreatoduodenectomy in a 69 year old woman. Histological evaluation revealed a simple mucinous cyst with localized lactoferrin amyloid deposition corresponding to the mural nodule identified on imaging.We report the first case of localized lactoferrin amyloid deposition in pancreas that presented as a mural nodule in a cystic lesion and prompted pancreatoduodenectomy. This unique case illustrates that on rare occasion mural nodule in a cyst can be benign. It adds amyloid deposition to the differential diagnosis of mural nodules in pancreatic cystic lesions seen on imaging. Amyloidosis arises from disordered protein metabolism in which normally soluble proteins undergo conformational changes causing insolubility and extracellular deposition . AmyloidLactoferrin is an iron binding protein present in the granules of polymorphonuclear leukocytes (PML) –13. UponA 69 year old Caucasian female with a past history of ocular melanoma was found to have an incidental 1.6 × 1.6 × 0.7 cm hypodense lesion in the head of the pancreas, on surveillance computed tomographic (CT) scanning of the abdomen  demonstrated the 1.7 × 1.3 cm lobulated lesion with effacement of the distal CBD (Fig. Gross evaluation of the pancreas revealed a 1.6 × 1.1 × 1 cm uniloculated cystic lesion in the head of the pancreas. The cyst did not show communication with the main pancreatic duct. The cystic lesion was completely excised and all margins were negative. The entire lesion was submitted for histological evaluation. Microscopic evaluation showed a unilocular cyst lined by gastric type mucinous epithelium Fig. a. No papHer post-operative course was uneventful apart from a mild wound seroma requiring only local wound care. She has since been seen multiple times in clinic following surgery and has recovered well.Lactoferrin amyloid deposition has never been reported in the pancreas. The case is unique because of unusual presentation of localized amyloidosis as a mural nodule in a 1.6 cm cystic lesion in the head of pancreas, detected by endoscopic ultrasound. As per current international consensus Fukuoka guidelines  for manaThe pathogenesis of amyloid lactoferrin in the pancreas remains unclear. This could be secondary to chronic inflammation. Some authors theorize that mutations in lactoferrin cause significant conformational changes prompting the formation of insoluble amyloid fibrils , 19. HowDiagnosis frequently requires more than just the initial clinical presentation and thus, imaging is usually necessary. In this case, multiple imaging modalities, including CT, MRI, EUS, and ERCP, were utilized. Only few case reports describe imaging findings associated with amyloidosis of the pancreas. Onur et al. reported CT findings of a diffusely hypoechogenic pancreas with associated enlargement and calcifications . KrishnaAmyloid deposition will typically present as amorphous eosinophilic acellular waxy deposits on histopathologic evaluation. When stained with congo red stain, the deposits are congophilic, impart apple green birefringence on polarizing microscopy and show red fluorescence on fluorescent microscopy using Texas Red filter . Though As diagnosis of lactoferrin amyloid deposition in the pancreas is novel there is no current standard of care for its treatment. In this case, surgical resection was recommended due to the initial concerns for malignancy developing in IPMN/MCN as well as presence of clinical symptoms. Following surgery, the patient has undergone standard post-operative follow-up with no further surveillance specific to her diagnosis suggested. Therefore, appropriate treatment and surveillance likely hinges upon the burden of symptoms experienced by the patient, presence or concern for additional pathology, and whether it represents a localized or systemic process.In conclusion, localized lactoferrin amyloid deposition in the pancreas presenting, as a mural nodule in an asymptomatic pancreatic cystic lesion is novel. Additional features of lymphadenopathy and atypical cells on FNAC of nodule were concerning for a malignancy, which led to surgical resection. Pathologic evaluation revealed localized amyloid deposition, lactoferrin type, limited to the focus of mural thickening in a simple mucinous cyst lined by gastric type mucinous epithelium. No dysplasia or carcinoma was seen. This is a unique case that adds a new clinical differential to the imaging feature of mural nodule in pancreatic cysts.