Hemangiomas of the glans penis are very rare. Treatment options include surgical excision, laser therapy, intralesional sclerotherapy, electrofulguration, and cryotherapy. However, there have been no definitive treatment guidelines established to date.A 19-year-old man presented with a mass on the glans penis, incidentally found during a circumcision performed at a local urology clinic 3 months before visiting our department.Histopathological examination identified the specimen as a cavernous hemangioma.The mass was completely excised and the resulting wound was closed layer by layer.The patient was discharged without complications, such as wound dehiscence or infection. Follow-up 14 months after surgery showed that the wound was well healed without recurrence and the patient was satisfied with the aesthetic result.Although there are many options to treat hemangiomas occurring on the glans penis, surgical excision can be considered when they are small in size. However, no definitive treatment guidelines for hemangiomas of the glans penis have been established to date. In this article, we report a case involving the surgical excision of a hemangioma of the glans penis that was incidentally detected after circumcision.Hemangiomas may be of several types, including capillary, cavernous, compound, or lobular. They are the most common type of tumors in children, but only 2% of hemangiomas occur in the urinary tract. Even among urinary tract hemangiomas, cases where the tumor occurs on the glans penis are extremely rare.2A 19-year-old man underwent circumcision at a local urology clinic 3 months before visiting our department. A mass was incidentally detected on the glans penis during the surgery, which was suspected to be a cyst. The patient underwent punch biopsy at a local dermatology clinic and the results were consistent with hemangioma. The patient and his parents desired surgical treatment rather than multiple procedures and presented to the outpatient clinic of our department. The mass at presentation was 1.0 × 0.8 cm in size, painless, non-tender, blue-red colored, and tortuous  and was conducted in accordance with the principles of the Helsinki Declaration II.3,4 Urogenital hemangiomas occur mostly in the kidney and bladder, and hemangiomas in the urethra, genital skin, and prostate have also been reported.,5 However, hemangiomas occurring on the glans penis are especially rare. A hemangioma that remained hidden under the foreskin throughout childhood and was detected only after circumcision has not yet been reported. There is no standardized recommendation or treatment guideline for such hemangiomas owing to such a low incidence rate.,7Hemangiomas are the most common benign vascular tumors, but hemangiomas in the urogenital area are rare.,8 However, it is limited by the fact that it must be performed serially over a few months and the equipment required is expensive, which reduces patient accessibility and increases cost.Neodymium:yttrium–aluminum–garnet (Nd:YAG) lasers, first introduced by Jimenez-Cruz and Osca in 1993 for the treatment of hemangioma of the glans penis, emit a 1060-nm wavelength beam and promote the coagulation of the hemangioma tissue. Its advantages include excellent functional and aesthetic outcomes with minimal scarring.,10 A sclerosant destroys the endothelium and triggers edema, resulting in thrombus formation in the vessel lumen and fibrosis. The lesion is subsequently removed by histologic absorption. However, despite its cost-effectiveness and the fact that it is easy to perform in outpatients, its use is steadily declining owing to associated complications such as cutaneous necrosis, ulceration, and hyperpigmentation.Intralesional sclerotherapy is a widely used treatment approach in similar cases in developing countries owing to its cost-effectiveness. In addition, unlike laser therapy or sclerotherapy, this option has the advantage of treatment completion in one visit. Thus, surgical excision can be performed for small, single lesions according to patient preference. However, it has a higher risk of bleeding and scar formation compared to non-surgical treatment.,3Surgical excision has traditionally been used for large, multiple hemangiomas that are difficult to treat non-surgically.,3 If their size is small, the prognosis after treatment is good regardless of the type or location. However, if they are large, they can only be removed by surgery, in which case aesthetic and functional impairments cannot be avoided.Because a glans penis hemangioma is very rare, there are no large-scale clinical studies of it and its prognosis is not well-known. There may be several factors that influence prognosis, including the type, growth, size, and location. They can continue to grow, but most of them do not and their sizes are relatively small compared to those of other sites.In the present case, it was difficult for the patient to receive multiple treatments because of his work schedule, and the patient and his parents desired rapid completion of treatment. Thus, surgical excision was performed, and good functional and aesthetic outcome was achieved without any complications.In summary, when a hemangioma of the glans penis is small in size, surgical excision can be a good treatment option because it is a single-stage procedure and can provide an excellent aesthetic and functional outcome.Conceptualization: Kwang Seog Kim.Data curation: Hyeok Lee.Formal analysis: Jae Ha Hwang, Sam Yong Lee.Investigation: Hyeok Lee.Methodology: Jae Ha Hwang, Sam Yong Lee.Project administration: Kwang Seog Kim.Writing – original draft: Kwang Seog Kim, Hyeok Lee.Writing – review & editing: Kwang Seog Kim.Kwang Seog Kim orcid: 0000-0002-6766-4640.Jae Ha Hwang orcid: 0000-0001-6992-8067.Sam Yong Lee orcid: 0000-0002-3185-2519.


Collision tumor is a very rare case of cerebral lesion. Approximately 50 reports of intracranial collision tumors were described in the literature. We present a case of supratentorial dural-based convexity collision tumor radiologically mimicking cavernous malformation and composed of cavernous malformation and meningioma.The case presents a 63-year-old female having MR findings such as hemorraged supratentorial dural-based mass with “popcorn” signs and hemosiderin deposits. The patient underwent craniotomy and evacuation of the subdural hematoma with resection of the tumor mass. Histologically the lesion had signs of a cavernoma and meningioma. MRI in a year after surgery did not reveale residual tumor mass or recurrence.Collision tumor is a very rare case. Preoperative diagnosis of a dural lesion is difficult and challenging. A neuroradiological differential diagnosis of similar cases needs focused attention. An intracranial collision tumor represents two coexisting, histologically distinct primary tumors in the same site without histological admixture or an intermediate cell population zone. Such tumors consist of components with different histogenesis and tumorogenic pathway representing a mosaic of two concurrent but independent tumors that have “collided” with each other . Our repA 63-year-old woman admitted in our clinic with complaints of intensive headaches in right frontal region and right orbit lasting for 1 month before. There was no history of vomiting, nausea, convulsions or unconsciousness, head trauma or early episodes of headaches. Physical and neurological examination was unremarkable. Magnetic resonance imaging showed a right chronic subdural hematoma with a slight midline brain shift and a tumor mass with a “dura-tail” and “popcorn signs” and hemosiderin deposits in the right frontal region  and meningioma. There are also reports of collision tumors consisting of two different cerebral metastases . This reOur preoperative diagnosis was cavernous malformation based on findings of brain MRI and included “popcorn signs”, the ring of hemosiderin on SWI, subdural hemorrhage on side of tumor mass. Clinical presentation was not specific. We were convinced that the tumor was a cavernoma until intraoperative visualization was done and proven with pathomorphology. Retrospectively this fact does not change surgical strategy – the similar tumor needs to be removed. Classical MRI features of pathologies can be misleading and decision of type of treatment in another case with hidden collision lesion may different. In this light more likely important that collision lesion had more risks of complication such as hemorrhage or hide high grade of tumor when lesion is small and asymptomatic.Dural-based lesion in most cases is meningioma. Imaging characteristics of meningiomas include broad-based dural attachment, signal changes in the skull due to tumor infiltration, sharp demarcation between the tumor and the brain, mass effect on adjacent brain tissue and homogeneous contrast enhancement . CavernoJohnson et al. reported the neuroimaging differential diagnosis of dural lesions mimicking meningioma . Some ofSome previous reports described dural-based CM that often mimic meningioma radiologically and vice versa –4, 6–9. Weigel et al. reported the first case of collision tumor consisted of meningioma and cavernoma but ventricular localization . In the The correlation between cavernous hemangioma and meningioma remains unclear. The occurrence of these lesions could be coincidental. Weigel et al. based on ventricular localization of both tumors hypothesized that a possible explanation of the collision of the two different tumors may be a cerebrospinal fluid mediated migration of tumor cells . Kilani In summary, a collision tumor is a very rare case. Preoperative diagnosis of a dural lesion is difficult and challenging. A neuroradiological differential diagnosis of similar cases needs focused attention.


Intussusception of the appendix occurs when part of the appendix passes the part next to it or the whole appendix to the cecum. It is classified as primary or secondary, or can be classified to partial or complete. Most cases are secondary and partial. Patients usually presents with right lower abdominal pain and most cases are diagnosed during surgery.A 27-year-old female presented with right iliac fossa pain and nausea for 2 days. Abdominal examination showed tenderness, guarding, and rebound tenderness at the right iliac fossa. The WBC count was 11,000 c/mm and the urinalysis was normal.At surgery, there was intussusception of the vermiform appendix in its middle part with palpable mass attached to its wall. Appendicectomy was performed successfully. The result of the histopathology was consistent with mucinous cystadenoma of the appendix with no evidence of malignancy.Surgery is the main form of treatment as most of the cases are diagnosed during surgery, the operation type may include appendicectomy or more extensive surgery is required such as right hemicolectomy depending on the cause. Surgery can be performed laparoscopically. Trials of colonoscopic reduction are not recommended. The condition may be primary and more common in young age groups but cases have been reported affecting infants and elderly patients, males are affected more commonly than females, and most cases are secondary. It may be partial involving part of the appendix or complete in which the whole appendix passes to the cecum ,2.In primary cases no causative agent can be detected, but the secondary type occurs when there is a causative pathological condition such as inflammatory conditions, tumors of the vermiform appendix, the presence of faecalith inside the lumen of the appendix, endometriosis involving the appendix, or some other rare pathological factors .Patients usually present with symptoms of appendicitis like right lower abdominal pain which varies in intensity and duration, in some patients the patients present with severe pain requiring an emergency operation, while others may have chronic and recurrent attacks of pain with multiple hospital visits before the condition is diagnosed, patients may also have shifting pain, nausea, vomiting and fever. Many cases are diagnosed at autopsy ,4,5.The condition is mostly diagnosed during surgery, sometimes and in some rare occasions the condition may be diagnosed radiologically preoperatively, CT-scan is the most useful diagnostic tool, the characteristic radiological sign is the coiled-spring appearance of the cecum with no filling of the appendix lumen when the double-contrast barium enema is used. Colonoscopy when performed may show the invaginated appendix inside the lumen of the cecum, this finding is seen in the complete type, while it may be completely normal in the partial type. The differential diagnoses may include tumors of the vermiform appendix and tumors of the cecum ,7.The work of this report case has been reported in line with the SCARE 2018 criteria [2A 27-year-old female was referred to the emergency department complaining from right iliac fossa pain and nausea for the last 2 days.The patient has negative past medical and surgical histories, and the family history was negative for chronic illnesses.2.1The general examination was unremarkable. Abdominal examination showed tenderness, guarding, and rebound tenderness at the right iliac fossa.2.2The WBC count was 11,000 c/mm and the urinalysis was normal. Ultrasound of the abdomen showed a simple right ovarian cyst measuring 3 cm in diameter with no evidence of pelvic collection.2.3Decision for Appendicectomy was done, during surgery the vermiform appendix was invaginated in its middle part with palpable mass attached to its wall, Traction applied to the tip of the appendix and there was round yellowish mass that was causing this invagination or interception, Appendicectomy was performed successfully and the right ovarian cyst removed.The result of the histopathology was consistent with mucinous cystadenoma of the appendix with no evidence of malignancy.2.4The patient was admitted for 2 days with no postoperative complications.3The first reported case of appendiceal intussusception was in 1858, when McKidd reported the condition in an autopsy sample of seven-year-old child who had history of repeated attacks of colicky abdominal pain 2 months before his death. This case was associated with round worm infection and was regarded as secondary. Appendiceal intussusception may be primary in which there is an invagination of the appendix but more commonly it is secondary which is caused by a predisposing cause [After the first reported case of McKidd, in 1897, Wright and Renshaw reported the first case who was diagnosed during surgery and underwent a successful surgery with appendicectomy [Most cases are caused by tumors of the appendix and endometriosis, mucocele of the appendix, carcinoid tumor, adenomas, and adenocarcinoma have been reported to be the causative tumors in many reported cases .Compound ileo-cecal or ileo-ceco-colic intussusception may be found in association with appendiceal intussusception in approximately half of the affected patients, this may suggest that this may be the triggering step in such patients .The coiled-spring appearance in CT-scan may be seen after appendicectomy when the stump of the appendix invaginates inside the cecum .In some old case reports successful hydrostatic pressure had been done for some cases with good long term outcome, but this is performed for the primary cases and when the patient is unwilling to have the surgical option. In many of the recent publications any authors .Surgery is the main form of treatment as most of the cases are diagnosed during surgery, the operation type may include appendicectomy when the condition is primary or the causative agent is benign, some times more extensive surgery is required such as right hemicolectomy when there is a malignant tumors causing the intussusception. Surgery may be done either by the open technique or the laparoscopic one, trials of colonoscopic reduction are not recommended by most of the authors as it may be very difficult and may result in some serious complications or the condition may be secondary and the primary lesion is missed which results ln delayed presentation ,9.3.1I was worried about the results of the surgery and after that my doctor informed me that this is a benign condition and no further act is required.None.Ethical approval has been exempted by my institution for reporting this case.Written informed consent was obtained from the patient for publication of this case report and accompanying images.The concept of reporting the case, data recording is done by Dr Dildar Haji Musa and Dr Ayad Ahmad Mohammed.Drafting the work and final approval of the work to be published is done by Dr Ayad Ahmad Mohammed.This work is case report and there is no need of registration.Dr Ayad Ahmad Mohammed is guarantor for the work.Not commissioned, externally peer-reviewed.The author has no conflicts of interest to declare.


Persistent sciatic artery (PSA) is a rare embryological vascular anomaly with a prevalence between 0.025–0.06%. PSA is frequently associated with aneurysmal degeneration and can result in neuropathy, thrombosis, or rupture, threatening limb and life.We present a case of a 72-year-old man with an incidental finding of a right sided 4 cm PSA aneurysm with limited symptoms. The aneurysm was treated successfully with endovascular exclusion and a femoral-popliteal bypass was performed to revascularize the leg.Treatment of PSA aneurysms involve excluding the aneurysm and revascularizing the involved leg. Improvements in endovascular embolization techniques now offer new solutions in the management of these aneurysms.A high degree of clinical suspicion is required to properly diagnose and treat PSA aneurysms. Referral to a center with expertise in both open and endovascular techniques is vital to ensure good outcomes. The fir in 1864 .2A 72-year-old man with a past medical history of hypertension, diabetes mellitus, coronary artery disease, and aortic insufficiency was admitted to our hospital with an unprovoked pulmonary embolus. As part of an occult malignancy work-up, a computed tomography (CT) of the abdomen and pelvis with intravenous (IV) contrast was performed and revealed a right persistent sciatic artery aneurysm. Follow-up CT angiography confirmed the diagnosis of a right sided persistent sciatic artery aneurysm and also demonstrated a hypoplastic right superficial femoral artery (SFA). . MaximalAfter a standard pre-operative evaluation, the patient elected to proceed with surgery to reduce the potential risk of aneurysm rupture, thrombosis or embolization . From a A CT angiogram of the aorta with lower extremity run off was obtained one month following his embolization which demonstrated a successfully excluded right sciatic artery. There was no flow appreciated within the aneurysm sac. His post-operative arterial doppler study demonstrated an ankle brachial index of 1.0 with triphasic wave forms. He continues to follow with surveillance arterial duplex studies obtained every 6 months. His graft has remained patent at his one year follow up with no symptoms.3A persistent sciatic artery (PSA) is a developmental anomaly with an unusually high incidence of complications . In the Aneurysmal degeneration of persistent sciatic arteries has been noted in 14.3–44% of all cases . Most pa10 Our case is a demonstration that endovascular embolization can provide adequate exclusion of the aneurysm without subjecting the patient to an extensive dissection of the aneurysm.Treatment for PSA includes exclusion of any aneurysms and revascularization of lower extremity if the PSA serves as the limbs dominant blood supply . CompletDue to its rare occurrence and high complication potential, a high degree of clinical suspicion is required to properly diagnose and treat PSA aneurysms. Referral to a center with expertise in both open and endovascular techniques is vital to ensure good outcomes.The authors report no declarations of interest.No funding was received for this case report.This case report was exempt from ethical approval by our institution policy. Informed consent was obtained to publish this case prior to drafting this manuscript.Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal upon request.Andrew Yang MD, Ammar Hashmi MD, Anton Androsov BS were all involved in writing the paper.Gregory Salzler MD and Evan Ryer were involved in the care of this patient and assisted with reviewing and editing of this case report.This is a case report that is not a “first in man” study. The techniques and medical equipment used have been proven to be safe for use in humans for similar disease processes.Andrew Yang MD.Not commissioned, externally peer-reviewed.


A man in his 80s was administered lenvatinib to treat multiple hepatocellular carcinomas. After starting lenvatinib, he was admitted to our hospital for fever and epigastric tenderness. Conjunctival icterus and conjunctival pallor were observed. Computed tomography showed high density areas in his tumors which were suggestive of intratumoral hemorrhage and tumor rupture. As a result, the patient underwent an emergent angiography and arterial embolization. Lenvatinib is a multityrosine kinase receptor inhibitor that inhibits vascular endothelial growth factor (VEGF) receptor . LenvatiThe most common treatment-related adverse events among patients who received lenvatinib included hypertension, diarrhea, decreased appetite, and weight loss . In a phA man in his 80s with liver cirrhosis due to hepatitis C virus referred to our hospital for further examination and treatment of multiple hepatic masses. Computed tomography (CT) revealed multiple HCCs in both lobes of the liver Figures . PIVKA-Iμl, total bilirubin of 1.9 mg/dL, elevated transaminase (aspartate aminotransferase (AST) of 119 U/L; alanine aminotransferase (ALT) of 87 U/L), lactate dehydrogenase (LDH) of 406 U/L, and C-reactive protein (CRP) of 12.07 mg/dL. Platelet count was within normal limits. CT examination showed high-attenuation areas in the multiple HCCs  was resumed about two months after HCC rupture and intratumoral hemorrhage.PIVKA-II was 1290.3 mAU/ml at three days after emergency angiography and 127.91 at two months after embolotherapy. Alpha-fetoprotein was within normal limits during the observation period.Lenvatinib is a multityrosine kinase inhibitor and inhibits tumor angiogenesis . In the Sorafenib, like lenvatinib, is a multikinase inhibitor that inhibits VEGF. Rombolà et al. reported a case of HCC rupture and attributed the risk to sorafenib use . SorafenHigh attenuation areas were seen in the multiple HCCs, and perilesional blood was observed near the hepatic tumor in the right lobe of the liver by CT examination in the present case. Therefore, multiple intratumoral hemorrhage and HCC rupture were considered. The pooling of contrast medium for intratumoral hemorrhage was observed in some tumors on angiography and CTHA. Uchida-Kobayashi et al. described that five of 68 cases treated with lenvatinib developed intraperitoneal or intratumoral hemorrhage, and they also observed pooling of contrast medium on angiography after intratumoral hemorrhage . As theyThe mechanism of spontaneous HCC rupture has not been understood. Several hypotheses have been proposed to explain the HCC rupture. It is said that tumor location is associated with spontaneous rupture of HCC . CaudateThere may not be a correlation between the dose of lenvatinib and hemorrhage because this report described that initiation doses of lenvatinib among the patients with hemorrhage were 12, 8, and 4 mg/day . This reThis report describes multiple intratumoral hemorrhage and HCC rupture caused by lenvatinib administration in a patient with multiple HCC. It is important to know that HCC may be prone to rupture depending on the location of HCC and the use of lenvatinib.


Nasal obstruction in neonates often results in respiratory discomfort, as neonates are obligate nasal breathers. Congenital bilateral nasal obstruction is an emergency situation which is generally secondary to choanal atresia. Rarely bilateral nasolacrimal duct (NLD) cyst causing intranasal swelling may be the underlying etiology. Neonatal respiratory distress warrants immediate measures to secure the airway and prompt investigations to reach a diagnosis for a definitive management. We describe a case of two-day-old girl with intermittent breathing difficulty because of bilateral NLD cysts causing nasal obstruction. The patient improved with conservative medical management. Congenital anomaly of nasolacrimal system is common, but dacryocystocele is an uncommon manifestation especially when it presents as bilateral intranasal cyst. The dacryocystocele is formed when there is concomitant proximal  and distal  membranous obstruction of the nasolacrimal drainage system, thus causing lacrimal sac and/or duct distension ,2. The pUsually, the garden variety of dacryocystocele presents with unilateral facial swelling located inferomedial to the medial canthus of the eye. In the case of rare congenital intranasal cysts, dacryocystocele may extend intranasally forming a nasal cyst located in the inferior meatus and present predominantly with respiratory distress, especially if bilateral. Most patients have epiphora due to functional closure of Rosenmuller valve present at the superior end of the tear sac and failure to open Hasner valve at the distal end of the nasolacrimal duct (NLD) .A two-day-old girl, born as full-term normal vaginal delivery, was referred to our department for intermittent episodes of difficult breathing as noticed by her mother. She also complained that the child had noisy respiration while sleeping and had excessive tearing. The symptoms neither progressed nor relieved on crying or on making the baby prone. There was no history of breath holding, difficulty while suckling, or bluish discoloration of her skin. There were no antepartum or intrapartum complications; the Apgar score was 10/10 and the birth weight was adequate.On examination, the baby was lying comfortably beside her mother and her respiratory rate was within normal limits (40/min). On closer examination, there was an intermittently occurring audible rush of air through the nasal passage during inspiration, more noticeable with the child’s mouth closed. There was mild epiphora and concomitant sticky mucopurulent eye discharge bilaterally. There were no signs of respiratory distress in the form of grunting, stertor, stridor, alar collapse, sternal or intercostal recession, and the oxygen saturation at room air was 97%. There were no episodes of apnea, cyanosis, or epistaxis. Importantly, there was no rhinorrhea or mucus impaction on nasal inspection. Additionally, there were no signs of any craniofacial dysmorphism, ear or nasal malformations, or any comorbidities. Cardiac and other systemic examinations were within normal limits.Examination of the nasal cavity with an otoscope revealed lateral wall bulge inferolateral to inferior turbinate, almost touching nasal septum, bilaterally. A nasogastric tube could be negotiated through the nares, which ruled out choanal atresia. There was no facial swelling and eye examination by ophthalmologist was reported as normal.Non-contrast computed tomogram (NCCT) of the nose and paranasal sinuses revealed hypodense cystic swellings in bilateral nasal cavities. The lesions were located inferior and lateral to inferior turbinates, pushing them medially in apposition with nasal septum Figures , 2.It was decided to give a conservative trial of warm compresses, nasal decongestants, antibiotic eye drops, and repeated lacrimal sac pressure and manual digital massage medial to medial canthus, towards the inferior direction. The patient responded well and was symptom free on the fifth day. The masses showed significant resolution and normal nasal cavity patency was noted on intranasal examination on the 10th day. Newborns are obligate nasal breathers until they are at least two months old. Thus, any nasal obstruction may have serious consequences and lead to respiratory distress. The most common cause of nasal obstruction is inflammatory edema; nevertheless, examination may reveal structural abnormalities, necessitating surgical intervention. The main surgical differential diagnosis is choanal atresia which is a congenital narrowing of the posterior nasal airway by a bony or membranous septum. In bilateral choanal atresia, respiratory distress in the neonate is relieved on crying, as it allows the baby to breathe through mouth. In laryngomalacia, the stridor worsens with crying, feeding, and lying in the supine position, whereas it improves in the prone position. Other differentials to be considered for congenital nasal obstruction are nasal trauma, such as septal hematomas and septal subluxation, dacryocystocele, meningoencephalocele, dermoid cyst, Thornwald’s cyst, hemangioma, pyriform aperture stenosis, nasal hypoplasia, and glioma .Congenital defects in nasolacrimal drainage occur in 20% of newborns, but its severe form, i.e. dacryocystocele, is rarely observed. Its frequency is in two in 1,000 live births . ApproxiImaging with CT and MRI techniques are helpful in distinguishing lesions and identifying intracranial communication. CT is quick and easy, and its diagnostic features include triad of lacrimal sac cystic dilatation, NLD dilatation, and intranasal cystic mass that appear homogeneous, well-defined, thin walled with fluid attenuation . CT is tAsymptomatic dacryocystocele may be managed conservatively with lacrimal sac massage as most 96%) resolve spontaneously by one year of age 6% resolv.Surgical interventions, such as lacrimal probing by an ophthalmologist and intranasal endoscopic cyst marsupialization by an otorhinolaryngologist, may be required in patients with large external or intranasal cysts who develop apnea or stridor . MechaniCongenital nasal anomalies as seen in our patient are uncommon yet potentially life-threatening reasons of upper airway obstruction in newborn and can result in neonatal respiratory distress. Through this two-day-old newborn baby’s case, we wish to highlight the importance of the broad differential diagnosis and structural abnormalities that dealing physicians should know so that appropriate referrals are done and treatment can be promptly initiated. Timely CT allows for optimal bony definition, and it is the diagnostic modality of choice. Management depends on the severity of distress, type, and location of the anomaly, the main goal being establishment of nasal patency. Fortunately, most infants often improve with conservative medical management as seen in our case.


CIC–LEUTX gene fusion. A 2-year-old male infant presented with a solid cystic mass in the left temporal lobe-basal ganglia and left parietal lobe  and underwent gross tumor resection. The tumor was classified as a poorly differentiated embryonal neoplasm of neuroectodermal origin that lacked specific features and rosettes. By immunohistochemistry, the tumor cells were strongly positive for synaptophysin, and the Ki67 proliferation index was high (>50%). FISH (Fluorescence in situ hybridization) results indicated no change in the copy number at the 19q13.42 C19MC locus. Next generation sequencing showed a CIC–LEUTX gene fusion, a somatic TSC2 c.G2714A mutation, and a heterozygous germline NBN c.C127T mutation. One month after surgery, there was recurrence of the intracranial tumor  as well as spinal cord implantation metastasis. The patient received chemotherapy (CTX+CBP+VCR/DDP+VP-16), radiotherapy, and a drug targeting the TSC2 gene (everolimus). At the time of this writing, the patient is alive without evidence of disease for 11 months. This is the first report of the CIC–LEUTX gene fusion in a case of CNS embryonal tumor.Central nervous system (CNS) embryonal tumors (WHO grade IV) are a heterogeneous group of rare, poorly differentiated neuroepithelial malignant neoplasms that commonly occur in children, and they have a poor prognosis. The 2016 WHO  classification of CNS tumors created a major shift in paradigm of the classification of embryonal tumors. However, some cases were still difficult to classify. Further integrative genomic analysis is needed to improve the precise classification, diagnosis and treatment of CNS embryonal tumors. Herein, we firstly report a case of CNS embryonal tumor harboring the pathogenic  DICER1-altered, have mutually exclusive biallelic DICER1 mutations in which the first hit is typically inherited through the germline  embryonal tumors are rare, poorly differentiated neuroepithelial malignant neoplasms that commonly occur in children, including a wide range of aggressive malignancies. The most common clinical manifestations are symptoms and sighs of increased intracranial pressure. However, the overlapping morphological features of these lesions present a diagnostic challenge and undermine the discovery of optimal treatment strategies. A lot of supratentorial CNS embryonal tumors have been histologically classified as primitive neuroectodermal tumor (PNET) in the past, and can have histological features overlapping those of other brain tumors. In recent years, with the advancement of genome technology, the molecular heterogeneity of these tumors is gradually being understood. Some of CNS embryonal tumors have been reclassified from this group through the identification of unique molecular biomarkers, such as embryonal tumors with abundant neuropils and true rosettes, which exhibit alterations in the 19q13.42 C19MC locus, and they are now considered to be a distinct genetically-defined entity known as the embryonal tumor with multilayered rosettes (ETMR), C19MC altered. Another entity has also been identified; embryonal tumors with multilayered rosettes (ETMR), A 2-year-old male infant presented with vomiting and drowsiness lasting for 2 months. On examination, the muscle strength of the right upper limb was grade II and lips skewed. This patient’s pregnancy was of normal length, and his delivery was uncomplicated; his birth weight was 2600g, height 50cm, and his Apgar score is 9. Brain magnetic resonance imaging (MRI) scans revealed a solid cystic mass with lesions in the left temporal lobe-basal ganglia-corona radiate, midline shifted to the right, and nodules in the left parietal lobe  . We found a fusion of CIC–LEUTX genes with breakpoints located in exon 20 of the CIC gene and exon 3 of the LEUTX gene   depth > 000×. We via the cerebrospinal fluid. The patient received chemotherapy (cyclophosphamide+carboplatin +vincristine/cisplatin+etoposide), an mTOR inhibitor (everolimus), and radiotherapy. The tumor shrunk significantly with clinical symptoms relief after therapy. At the time of this writing, the patient was still being treated without any clinical symptoms.The patient presented with weakness of the right upper limb five weeks after surgery. Plain and enhanced MRI scans of the brain revealed a partial deletion in the left parietal lobe, the presence of multiple nodules and lesions  near the surgical site, and left basal ganglia and left basis cranii, indicative of disease recurrence. The left forehead, bilateral temporal region, suprasellar area, front portion of the pons, and pia mater of the bilateral cerebellar hemisphere were unevenly thickened, suggesting implantation metastasis. Plain and enhanced MRI scans of the cervical vertebra revealed lumbo-vertebral canal subdural nodules, slightly thickened terminale meninges, and suspicious lesions that appeared to have spread DICER1-altered, have been described, there are few reported cases of new molecular changes in CNS embryonal tumors. In 2016, Dominik Sturm et al. (FOXR2 activation (CNS NB–FOXR2), CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT–CIC), CNS high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET–MN1), and CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET–BCOR). However, a CIC–NUTM1 gene fusion or a CIC frameshift deletion, not a CIC–LEUTX gene fusion and a CIC amplification, were detected in CNS EFT–CIC. In review of the literature, we found only three cases of the CIC–LEUTX gene fusion were reported in CNS, namely a case of CNS angiosarcoma, a case of anaplastic ganglioglioma, and a case of anaplastic astrocytoma with epithelioid GBM features , C19MC altered, and embryonal tumors with multilayered rosettes (ETMR), features , 8  leads to transcriptionally activated of specific CIC target gene, similar to BRD4-NUTM1 might block differentiation in midline carcinomas , the most common partner of CIC fusions , and minor(s)’ legal guardian/next of kin, for the publication of any potentially identifiable images or data included in this article.WH, LY, and JZ identified and diagnosed the reported case. XZ, YJ, and CS performed NGS analysis. and WH, JW, JZ, and XS wrote and revised the manuscript with input from all authors. All authors contributed to the article and approved the submitted version.XZ, YJ, and CS were employed by Jiangsu Simcere Diagnostics Co., Ltd.The remaining 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.


Endobronchial tumors (ET) are unusual and mostly malignant, presenting with non-specific symptoms that often delay appropriate diagnosis and treatment. Lymphomas in the airway represent less than 1% of pulmonary malignancies and require multidisciplinary approach for their management. We present a case of a 48-year-old male former smoker with a one-year history of recurrent respiratory infections and new-onset shortness of breath. Diagnostic tests included a chest computed tomography (CT) reporting the presence of an endobronchial mass and neck and cervical lymph node biopsies with inconclusive results. Bronchoscopy was successfully performed for tumor resection, improving the patient’s respiratory symptoms. Histological analysis described an extranodal marginal zone B-cell lymphoma (ENMZL) with plasmacytic differentiation; a subtype of non-Hodgkin’s lymphoma (NHL) in mucosa-associated lymphoid tissue (MALT), rarely found as an endobronchial growth. ET should be considered in the setting of persistent and worsening respiratory symptoms. ENMZL with plasmacytic differentiation is rarely found as an ET and diagnosis requires bronchoscopic intervention and extensive immunohistochemical analysis. Endobronchial tumors (ET) are uncommon and represent 0.4% of all body tumors . In mostAirway lymphomas arise as a rare cause of endobronchial growth, with a predilection for Hodgkin's lymphoma over non-Hodgkin's lymphoma (NHL). NHL accounts for less than 1% of pulmonary malignancies, and its diverse pathological presentations often elude a clear diagnosis . We repoA 48-year-old former smoker male (seven pack-year history) was referred to our clinic for evaluation of an endobronchial mass found on a chest computed tomography (CT). He presented with a one-year history of cough, myalgias, arthralgias, recurrent respiratory tract infections, and new-onset shortness of breath, with no fevers, weight loss, or night sweats. His previous workup included a non-diagnostic bronchoscopy and CT-guided neck lymph node and bone marrow biopsies with inconclusive results.Once in our care, a repeated chest CT scan confirmed the presence of an endobronchial mass occluding the left upper lobe with air trapping throughout the left lung Figure . Bulky hA new flexible bronchoscopy demonstrated an ET in the distal left mainstem bronchus, occluding 90% of the lumen Figures -2B. We dA thorough review of the bone marrow biopsy reported a normocellular bone marrow and aspirate. However, the neck lymph node biopsy was positive for immunohistochemical stains cluster of differentiation (CD)20 and CD79a, highlighting clusters of B-cells, and CD138, kappa, and lambda showed increased atypical plasma cells with kappa restrictions. CD30, CD15, and paired box gene 5 (PAX5) were negative for Hodgkin-Reed-Sternberg cells, and Congo red stains were also negative for amyloid. Molecular studies for B-cell gene rearrangement identified a clonal rearrangement, supporting a B-cell disorder diagnosis.The histological analysis of the 1.5 cm endobronchial nodule described a polypoid tissue with neoplastic kappa light chain-restricted plasma cell infiltrates associated with amorphous eosinophilic material and surrounded by clusters of lymphocytes Figure . Congo rFinally, mass spectrometry confirmed the predominance of kappa immunoglobulin light chains and did not identify any amyloid proteins in both the neck lymph node and the ET. In combination with the B-cell lymphoproliferative disorder, the patient was diagnosed with ENMZL with plasmacytic differentiation, a rare NHL of mucosa-associated lymphoid tissue (MALT) overlapping between a low-grade lymphoma and a plasma cell dyscrasia.Treatment for ENZML comprises six courses of combination chemotherapy with cyclophosphamide, bortezomib, dexamethasone, and rituximab and follow-up by the Department of Hematology and Oncology at our institution.ETs are an unusual finding, accounting for 0.6% of all pulmonary tumors. The majority of ET are malignant in adults, while benign lesions are more common in pediatric populations. Squamous cell carcinomas and adenoid cystic carcinomas comprise around two-thirds of malignant tumors in the tracheobronchial tree, followed by lymphoma, mucoepidermoid carcinomas, adenocarcinomas, and plasmacytomas ,6.Thoracic involvement presents in up to half of patients with NHL. However, pulmonary compromise is only seen in 3.6% and usually affects hilar and mediastinal lymph nodes, or lung parenchyma . ENMZL oThe most frequently described symptom is a slow-onset, mild, persistent cough that progresses to dyspnea. Constitutional B-symptoms  are less common, and in an eight-case review of endobronchial NHL, they were only recounted once. Our patient denied any constitutional symptoms, and aside from the shortness of breath due to airway obstruction, he remained in his usual health. Hoarseness, pleuritic pain, and hemoptysis have also been mentioned, and in the absence of airway obstruction, patients can remain asymptomatic . HoweverCT and bronchoscopy are the initial diagnostic and therapeutic tools. Rigid and flexible bronchoscopy allows for direct visualization of the lesion, assessment of contiguous spread, and tissue sampling . Based oENMZL can present with overlapping manifestations of other blood cell lines. Plasmacytic differentiation occurs in approximately one-third of MALT lymphoma cases and includes light chain-restricted plasma cells located in the interfollicular and perifollicular regions or within colonized germinal centers. This differentiation is minimal in most cases, but can become aggressive, consisting of more than 80% of the total cellularity, as our patient presented . ImmunohETs are rare and usually present with non-specific respiratory symptoms. Malignancy is the more common presentation, requiring histological analysis for accurate subcharacterization. ENMZL is a subtype of NHL that can present with plasmacytic differentiation in up to one-third of cases. Management includes bronchoscopic intervention and chemotherapy, with a favorable prognosis.


We present a case of superior mesenteric venous thrombosis (SMVT) treated successfully with thrombectomy without bowel resection. A 73-year-old female was referred to our hospital with complaints of stomach ache. The patient was diagnosed with SMVT with impending bowel necrosis and underwent an emergency operation, after computed tomography (CT) revealed a thrombus in the superior mesenteric vein (SMV) extending to the splenic vein, ascites, and extremely edematous intestines. The intestines were not necrotic though highly congested. To avoid massive bowel resection, aggressive thrombectomy was performed. Postoperative CT confirmed resolved SMV and improved bowel edema. Prompt thrombectomy should be considered in such cases. Here we report a case of SMVT in a 73-year-old woman, which was successfully treated by undertaking early thrombectomy without bowel resection.Superior mesenteric venous thrombosis (SMVT) is an uncommon, critical disease accounting for 6%–15% of mesenteric ischemic diseases, and with a mortality rate of 8%–17%, which reportedly reaches as high as 33% in recurrent cases.A 73-year-old woman with a history of diabetes mellitus, dyslipidemia, and Sjogren’s syndrome was referred to our hospital with complaints of abdominal pain and emesis for two days. She also reported a history of ischemic colitis secondary to inferior mesenteric venous thrombosis (IMVT), which had been conservatively treated two years earlier with seven months of warfarin therapy. Physical examination on admission revealed abdominal tenderness and defense. Laboratory data indicated lactic acidosis, and D-dimer level was as high as 50.27 μg/mL. No abnormalities in coagulation factors, or autoantibodies were identified, except Sjogren’s syndrome. Enhanced computed tomography (CT) revealed totally occluded superior mesenteric vein (SMV) with a large thrombus, ascites, and severe edema along the terminal ileum to the ascending colon  5 demonstrated a patent, thrombus-free SMV and ameliorated bowel edema , and hemostatic abnormalities , it is classified as either idiopathic or secondary, with the latter being the case in about 80% of patients. In the case reported here, however, these factors were not present. Except the patient had a history of Sjogren’s syndrome whose relationship with SMVT is not yet known. Nonetheless, the patient had a history of recurrent thrombosis due to an uncertain cause.SMVT is an uncommon disease with unspecific symptoms and causes an acute abdomen. In most cases, it progresses so slowly that early diagnosis is difficult. If clinical symptoms do not improve even after anticoagulant therapy, interventional radiology (IVR) procedures, such as trans-superior mesenteric arterial thrombolysis and percutaneous transhepatic thrombolysis, are considered. As recommended by the ESVS guidelines, compared with surgery, IVR procedures might have poor therapeutic effects on such totally occluded veins as those observed in the present case; moreover, the desired effects take a certain period of time to occur, resulting in bowel necrosis. Also, the potential risk of bleeding remains a serious concern. Nevertheless they are less invasive and lead to more consistent outcomes.There exist no clear guidelines in Japan regarding the management of SMVT; however, the European Society of Vascular Surgery (ESVS) has published guidelines on SMVT management in European countries, suggesting that prompt anticoagulant therapy with heparin should be initiated as the first-line treatment immediately after diagnosis.It is clear that emergency surgery is indicated if bowel necrosis is suspected at the time of diagnosis. The aims of laparotomy are to evaluate necrotic intestines and relieve venous congestion. In each case, the necessity and site of bowel resection should be carefully considered. Ischemic changes due to SMVT are different from those caused by arterial perfusion insufficiencies, such as superior mesenteric arterial thrombosis, where the affected segments of the intestines appear dark purple in color as a result of congestion; therefore, at present, there is no established way to quantitatively determine the necrotic intestinal segment to be resected and it might be difficult to visually identify the presence or site of necrosis. Bowel anastomosis in cases of highly edematous intestines or microthrombosis might cause anastomotic leakage, whereas maintaining a safety margin may result in excessive bowel resection. Therefore, it has been reported that minimal bowel resection with a second-look operation in mind helps avoid these problems. However, in the present case, anticoagulant therapy with warfarin after ischemic colitis due to IMVT was terminated seven months after the onset of IMVT. We prescribed permanent anticoagulant therapy for this idiopathic SMVT as, although the patient’s local physician confirmed that the thrombus had been resolved at the time of warfarin termination, the patient experienced another ischemic event due to SMVT. We chose warfarin, not direct oral anticoagulants, as anticoagulant therapy for this patient because the recurrence of mesenteric thrombosis occurred after termination of warfarin, which potentially means warfarin was effective, and also favorable in cost.Permanent anticoagulant therapy for SMVT is recommended unless contraindicated. and, with enhanced CT being employed to confirm SMVT in our case, CT being regarded as the most standard and useful tool for the diagnosis of SMVT, this improvement seems to have resulted from early diagnosis. This is due to the development and availability of CT imaging, as well as from the emergence of various treatment options.Recently, there has been a considerable improvement in the mortality rates of patients with SMVT,This study highlighted the overriding importance of prompt diagnosis and immediate laparotomy, especially in cases with a large SMVT and severe bowel congestion, to avoid massive bowel resection, where we dealt with a case of severe SMVT accompanied by impending bowel necrosis, which was successfully managed by prompt thrombectomy without bowel resection. The potential role of permanent anticoagulant therapy in the prevention of recurrent SMVT was also emphasized.


The rudimentary horn of uterus is an extremely rare malformation and potentially serious obstetric entity, threatening maternal and fetal outcome. Diagnostic sonography of early pregnancy in a non-communicating rudimentary horn is difficult but important. We report a case of ruptured non-communicating rudimentary horn with unicornuate uterus at 12 weeks’ gestation, where diagnosis is made before surgery. Excision of the rudimentary horn and ipsilateral salpingectomy , conserving the ovary, is the recommended surgical procedure for patients desiring to maintain their fertility potential. The subsequent obstetric prognosis is reassuring. Diagnostic imaging examinations of the reproductive system after this treatment showed no negative effect from surgery on subsequent fertility and there was no reported case of uterine rupture during subsequent pregnancy in the remaining unicornuate uterus after rudimentary horn excision. Future pregnancies will require extremely close monitoring and a caesarean section is highly recommended. Unicornuate uterus with a rudimentary horn results from arrested development of one of the Mullerian ducts. The majority of patients are asymptomatic but this rudimentary horn may contain a cavity with endometrium and be the seat of implantation of a pregnancy ,2.The incidence of rudimentary horn pregnancy is estimated between 1/100,000 and 1/140,000 pregnancy. In most cases, the natural history of this atypical pregnancy is rupture of the pregnant horn during the first or second trimester, resulting in life-threatening heavy bleeding, and diagnosis is made during surgery for maternal rescue ,4.The ultrasound diagnosis of a pregnancy in a malformed uterus, in particular in a rudimentary horn, is important given the severity of the situation, but remains difficult. The achievement of the ultrasound by experienced operators seems essential.A case is presented demonstrating a non-communicating rudimentary horn connected to a unicornuate uterus, where diagnosis was made prior to surgery.An 18-year-old healthy woman, gravida 2, para 0, with a history of abortion by vacuum extraction, presented to the emergency department with abdominal pain in early pregnancy.She had no previous medical or surgical history of relevance. According to her dates she was thought to be 12 weeks pregnant; no ultrasound had yet been performed.The patient was hemodynamically stable, with no tachycardia or hypotension. The first examination was reassuring, as there was no bleeding, and a pelvic ultrasound showed an intrauterine pregnancy with an embryo measuring 72 mm, biometric indices were consistent with the menstrual age, and cardiac activity was visualized Figure . The patA new pelvic ultrasound was performed that showed an embryo with cardiac activity, inside a uterine cavity but the myometrium looked fine. No intraperitoneal effusion was visualized. A unicorn uterus was visualized in the left, and pregnancy inside another cavity. No 3D ultrasound had been performed before, and the uterine malformation was not previously labeled.Given that the patient’s pain progressed, a decision was made to perform a diagnostic laparoscopy immediately. Laparoscopy revealed rupture of a gravid rudimentary uterine horn in the right side, causing excessive intraperitoneal bleeding Figure .Due to an enlarging gravid uterus, it became necessary to perform a laparotomy. Excision of the right rudimentary horn and ipsilateral salpingectomy was performed with a LigaSureTM device. The entire cavity was removed with the right tube. Hemostasis was also provided by several separate points of a 0 braided suture on the area of communication with the remaining uterine horn. One liter of blood was aspirated from the abdominal cavity. Four units of blood were transfused intra- and postoperatively. Her post-op recovery was uneventful. She was discharged on post-op day 3.According to the European Society of Human Reproduction and Embryology (ESHRE) classification, unicornuate uterus is classed U4a . It is rSonographic diagnosis of this malformation is challenging due to a limited field of view compared to other diagnostic imaging modalities and lateral deviation of the rudimentary horn . Due to In the above case the vacuity uterine was clearly visualized during the transvaginal examination and diagnosis was established prior to surgery. In the majority of cases published, pelvic ultrasound led to a misdiagnosis of intrauterine pregnancy (because of the presence of myometrium in the rudimentary horn) and diagnosis was made during surgery performed for hemorrhagic shock .When a rudimentary uterine horn ruptures, surgery essentially facilitates diagnosis and enables the definitive treatment. Excision of the rudimentary horn and ipsilateral salpingectomy , with the intention of conserving the ovary, is the recommended surgical procedure for patients desiring to maintain their fertility potential. In recent years, several cases were treated by laparoscopy ,10. LapaThe subsequent obstetric prognosis is reassuring. Diagnostic imaging examinations of the reproductive system after this treatment showed no negative effect from surgery on subsequent fertility and there was no reported case of uterine rupture during subsequent pregnancy in the remaining unicornuate uterus after rudimentary horn excision .Also, urinary tract anomalies are common in women with unicornuate uterus. In a review of literature, Jayasinghe et al. found renal anomalies in 59 (36%) of 165 cases of rudimentary horn . The neePregnancy in a rudimentary uterine horn is a rare form of ectopic pregnancy, which can be difficult to diagnose clinically or even with diagnostic imaging. Early diagnosis of this uterine abnormality is essential, before pregnancy if possible or in the first trimester. Therefore, location of pregnancy and detection of uterine malformations is essential. Understanding the sonographic appearance of early pregnancy in a non-communicating rudimentary horn is important and can be life-saving.


We report the case of characteristic findings of appendicular endometriosis that presented as a submucosal tumor in the cecum without any abdominal symptoms treated with single-incision laparoscopic ileocolectomy.The patient was a 51-year-old woman (body mass index: 21.5) who underwent an examination to investigate the cause of a positive fecal occult blood test. Her laboratory test results were normal, without anemia or tumor marker elevation. Colonoscopy revealed a submucosal tumor in the cecum. Enhanced computed tomography (CT), fluorodeoxyglucose-positron emission tomography-CT and magnetic resonance imaging failed to produce a clear diagnosis. Given the malignant potentiality of the tumor, ileocolectomy was considered potentially necessary, but she wished for minimally invasive surgery. She ultimately underwent ileocolectomy and lymphadenectomy with single-incision laparoscopic surgery. A pathological examination revealed the lesion to be appendicular endometriosis, and 14 lymph nodes with no malignancy were resected.Appendicular endometriosis can present as a submucosal tumor in the cecum without any abdominal symptoms. Appendicular endometriosis should be considered in the differential diagnosis of ileocecal submucosal tumor. Single-incision laparoscopic ileocolectomy was useful procedure for cecum tumor resection. In the literature, there are a number of reports of patients with appendicular endometriosis who presented with symptoms of likely acute appendicitis and were treated by appendectomy laparoscopically or laparotomically. The macroscopic findings of the lesion were often appendiceal wall-thickening and diagnosed as appendicular endometriosis with a pathological examination .Single-incision laparoscopic surgery (SILS) for colorectal disease is a relatively new technique and known to be a more difficult maneuver than multi-port laparoscopic surgery (MLS). Furthermore, the oncological outcomes remain unclear .We herein report the characteristic findings of appendicular endometriosis that presented as a submucosal tumor in the cecum without any abdominal symptoms and was treated with single-incision laparoscopic ileocolectomy as an oncologically acceptable procedure. This work has been reported in line with the SCARE criteria .2The patient was a 51-year-old woman whose body mass index was 21.5. She underwent an examination to determine the cause of a positive fecal occult blood test on cancer screening. She had no symptoms and she had no specific medical or family history. Her gynecological history was unknown. Her laboratory test results were normal, without anemia or tumor marker elevation. Colonoscopy showed submucosal tumor of 2.5 cm in diameter in the cecum . ColonosThe laparoscopic findings showed appendiceal intussusception to the cecum, which was considered a malignant entity during surgery A. Althou3Endometriosis is defined as an ectopic occurrence of tissue that functionally resembles endometrial tissue, which is implanted into regions other than the uterus . It is tWhen an ileocecal submucosal tumor is detected, the following differential diagnoses should be considered: adenocarcinoma, carcinoid, mucinous cystadenoma, mucinous cystadenocarcinoma, lipoma, lymphoma, and pericolonic abscess . ConsideSILS is a less invasive surgery than MLS, but it is known to be a difficult maneuver, and the oncological outcomes are unclear . During The preoperative diagnosis of ileocecal submucosal tumors is difficult because these entities do not have specific imaging patterns. In the present case, we therefore performed ileocolectomy and lymphadenectomy to remove a benign tumor. Considering the difficulty of making a preoperative diagnosis, the surgical procedure performed in this patient might be appropriate in this case; however, the present case shows that endometriosis should also be considered in the differential diagnosis of ileocecal submucosal tumor, and further reports should be accumulated to determine preoperative diagnosis more clearly.4We reported a case of appendicular endometriosis that presented as a submucosal tumor in the cecum without any abdominal symptoms and which was successfully treated by single-incision laparoscopic ileocolectomy. Appendicular endometriosis should be considered in the differential diagnosis of ileocecal submucosal tumor.International System of Units (SI).The authors declare that no sources of funding have been requested for this research.This case report is not research study, therefore approval was not given.The ethical approval has been exempted by our institution.Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.MY contributed to conceptualization, data curation, writing original draft and editing. MM, TK, HE, HO and NH contributed to supervision, writing original draft and editing.This paper is a clinical report, so the authors declare that no registration is needed.Masanori Yoshimitsu is the Guarantor for this work.Not commissioned, externally peer-reviewed.The authors declare that have no conflicts of interest.


We would like to report an unusual case of a pericecal hernia in a 93-year-old female. The patient did not report a history of previous abdominal surgery and presented with acute abdominal pain, constipation, nausea, and vomiting. Diagnosis was made with computerized tomography and laparoscopy was performed, which was significant for loops of small bowel in the pericecal region in a defect of peritoneum. The small bowel loops were mobilized back in the intraperitoneal location and the defect was closed to prevent further herniation. Our case is an extremely rare presentation of a rare condition, as there have only been five reported cases of pericecal hernias that required immediate surgical intervention and outlined explicit details of the surgical procedure. Pericecal hernias are unusual occurrences and occur more frequently in older women. Since the clinical signs and symptoms mimic acute appendicitis, delays in diagnosis are common. Thus, this case highlights the importance of suspecting strangulated internal hernias in patients with signs and symptoms of acute appendicitis to prevent significant morbidity and mortality. Hernias can be broadly categorized as internal and external. An internal hernia is the protrusion of visceral contents through a congenital or acquired opening within the peritoneal cavity, whereas external hernias occur through an opening in the abdominal wall . InternaBoth hernias and appendicitis can present with abdominal pain. The pain associated with appendicitis is classically initially dull, migratory, and periumbilical, but becomes sharp in the right lower quadrant once the parietal peritoneum is irritated by a distended and inflamed appendix. With a lifetime risk of 8.6% in males and 6.7% in females, appendicitis is a common pathology that can mask infrequent causes of right lower quadrant abdominal pain, such as a strangulated pericecal hernia .We would like to report a 93-year-old female with no previous abdominal surgery, presenting with a three-day history of constipation and one-day history of abdominal pain, nausea and vomiting. The abdominal pain was described as sharp and located in the right lower quadrant. On presentation, the patient was afebrile and did not complain of recent chills, night sweats, melena, weight loss, or previously altered bowel habits. Her past medical history was significant for hyperlipidemia and gastroesophageal reflux disease. She had no previous surgeries and her medication list included simvastatin and ranitidine. The patient’s vital signs were notable for a temperature of 99.4°F, heart rate of 98 bpm, blood pressure 110/90 mm Hg, respiratory rate of 18 breaths per min, and an oxygen saturation of more than 95% on room air. Clinically, abdomen was soft, but distended with tenderness on palpation in the right lower quadrant with sluggish bowel sounds.At this point, due to the patient's history and nature of the abdominal pain, our leading diagnosis was acute appendicitis followed by small bowel obstruction with a possible corresponding hernia. Since the patient had a negative past abdominal surgical history, adhesions would be an unlikely cause of small bowel obstruction. Other causes of right lower quadrant abdominal pain such as nephrolithiasis and ischemic bowel were less likely due to the absence of hematuria or hematochezia/melena.Her routine blood work was significant for an elevated white count to 12,000/mL with 89% neutrophilia, hemoglobin 12.9 g/dL, hematocrit of 30%, platelet count of 150,000/mL and basic electrolyte profile showed sodium of 140 mEq/mL, potassium of 3.7 mEq/mL, blood urea nitrogen of 37 mg/dL, creatinine of 1.1 mg/dL, and C-reactive protein of 5.5 mg/L. A noncontrast computed tomography (CT) scan of the abdomen and pelvis was performed to further investigate. This revealed small-bowel loops in the right lower quadrant lateral to the ascending colon. The loop of bowel appeared distended and was associated with some mesenteric fat stranding (Figures After fluid resuscitation and bowel rest, the patient was considered for surgery as she continued to complain of increasing pain in right lower quadrant, which was not relieved with ketorolac.The patient was taken to the operating room and a diagnostic laparoscopy was performed using a 10-mm video port at the umbilicus. An additional midline 5-mm port was placed in the suprapubic region. Loops of small bowel were visualized in the pericecal region in a defect of peritoneum. The small bowel loops were mobilized back in the intraperitoneal location using a grasper and blunt dissection. The peritoneal defect was identified Figure  and thisThe patient withstood the procedure well and had a normal postoperative course. The patient was tolerating diet and ambulatory on postoperative day 1. On postoperative day 2, the patient was subsequently discharged with an in-office follow-up scheduled for postoperative day 7. On postoperative day 7, the patient's surgical incisions were dry, clean, and intact. Her bowel habits returned to normal and she denied nausea, abdominal pain, fever, chills, melena, hematochezia, or abdominal pain.Internal hernias can result from natural orifices or those made from procedures, such as Roux-en-Y gastric bypass . Most coRadiograph imaging, specifically non-contrast CT scans, reveals loops of bowel, usually posterolateral to the cecum and right paracolic gutter. Also present can be signs of small bowel obstruction, such as air fluid levels, dilated loops of small bowel, and a transition point . Early dA literature review on PubMed including the terms “pericecal hernia” and “paracecal hernia” yielded 27 and 24 matches, respectively. Articles that did not provide surgical details or utilize urgent surgical intervention were excluded from our literature review. One manuscript reported three cases of pericecal hernia in a series of 533 cases of small bowel obstruction . Among tWhen comparing the aforementioned cases with our case, our patient’s presentation is particularly notable because of her age, lack of past surgical history, and surgical method. According to our literature review, there were just two other nonagenarian patients that suffered from this condition ,13. MoreAdditionally, immediate diagnostic imaging allowed our patient to be managed with minimally invasive laparoscopic surgery. Based on our literature review, the nonspecific signs and symptoms of strangulated pericecal hernias delayed diagnostic imaging, which ultimately resulted in an exploratory laparotomy in a majority of cases. Thus, our case can be utilized as a guide for the early diagnosis and management of patients with potential strangulated internal hernias.Pericecal hernia is an unusual occurrence and is seen to occur more frequently in older women. The clinical signs and symptoms often mimic acute appendicitis, which typically causes a delay in diagnosis. Clinical findings are often insufficient to make a diagnosis. Early diagnosis can be made with imaging like computed tomography. In patients, early laparoscopy can help confirm diagnosis and reduce the internal hernia. The internal hernial orifice should be closed or enlarged to prevent further herniation. Delay in diagnosis can result in hernia getting complicated needing an exploratory laparotomy and prolonged morbidity.


The subject was a 66-year-old woman, suffering from the chest pain evoked by physical activity. Transthoracic echocardiography (TTE) revealed an abnormal structure, 41 × 29 mm. In MSCT, a hypodensic mobile tissue lesion that was infiltrating the whole thickness of left ventricle was confirmed. PET excluded the existence of other remote lesions. After surgical tumor removal, histopathological differential diagnosis revealed melanoma, myoepithelial cancer, and MPNST “high–grade” sarcoma. A control TTE detected a tumor that was 14 × 10 mm. After immunohistochemical results, immunotherapy with pembrolizumab was used, which resulted in complete tumor resolution. Presently, surgical resection and neoadjuvant targeted immunochemotherapy remain the treatment of choice for clinical stage III/IV melanoma. Primary cardiac tumors are rare , and theThereinafter, an interesting case of a 66-year-old female patient with melanoma of an unknown origin with solely heart metastases is presented.A 66-year-old woman with no history of cardiovascular disease was admitted to the Department of Cardiology of the Medical University of Lublin, on 15th January 2019, because of impaired exercise tolerance, retrosternal chest pain accompanied by numbness of the left upper limb, and temporary heart palpitations. She had experienced the symptoms for several months prior. ECG performed on admission showed the sinus rhythm of 72 bpm, intermediate heart axis, no ST-T segment changes, and no arrhythmias or conduction disorders. The results of basic laboratory tests were within the acceptable range.Two-dimensional transthoracic echocardiography (2D TTE) detected the presence of a large left ventricular mass, 3.0 × 3.4 cm in diameter, in the parasternal short axis presentation, and of 2.9 × 4.1 cm in four chamber (4-Ch) apical presentation A–C. MoreDue to retrosternal chest pain reported by the patient, coronary angiography (CA) was performed. The angiographic examination excluded significant changes in epicardial coronary arteries. Poor tumor vascularity at the late arterial phase of right coronary artery and circumflex branch of the left coronary artery selective angiography were visualized E,F.Subsequently, cardiac CT was performed, confirming the existence of left-ventricle muscle thickening in the area of the knobby lesion. CT scans affirmed a hypodense mobile tissue lesion of irregular outlines originating in the left ventricle wall in medial and the inferoseptal segment, infiltrating the whole thickness of the left ventricle A–F. The The patient’s case was discussed with and assessed by the Heart Team. On 29 January 2019, the 66-year-old woman was transported to the National Institute of Cardiology in Warsaw, Poland, for further diagnostics and treatment. On admission to the National Institute of Cardiology in Warsaw, cardiac CT was repeated which revealed soft-tissue masses in mid-inferoseptal and inferior segments and stemming from the left ventricle muscle. They constituted a starting point of a large soft-tissue mass measuring 50 × 30 × 25 mm, connected with the inferoseptal LV wall. It was probable that the infiltration of the LV was more advanced than that observed and may have comprised almost the whole inferoseptal and midseptal segments, as well as mid inferior and apical ones. The tumor was balloting and moving towards the mitral valve and the anterior papillary muscle when the patient was in the supine position. The morphology of the mass could be characterized as multiform and having numerous tabs. The process of angiogenesis within the lesion could not be excluded.On 2 February 2019, in the Department of the Cardiac Surgery and Heart Transplantation of the National Institute of Cardiology in Warsaw, the resection of left ventricle tumor was performed. Because of the size of the lesion, there was no possibility of removing it via mitral valve leaflets. An anterior leaflet was mobilized by removing it from the annulus. Additionally, the mitral valve was repaired with a C-E Physio ring implanted.A control postoperative TTE showed enlarged left atrium dimension; the dimensions of the remaining heart cavities were normal. There were no segmental contractility disorders. EF was ~60%. In the mitral position, the shadow of the annulus was visible. TTE confirmed small tricuspid regurgitation.The postoperative course was uneventful. The wound healed properly; the sternum was stable. The patient was transported to the Department of Cardiology of the Medical University of Lublin in a good clinical condition. On the first day after the admission, an episode of AF was registered; the reversion to sinus rhythm was spontaneous. Heart rhythm disturbances did not occur later during the hospitalization, in the Department of Cardiology of the Medical University of Lublin. Furthermore, a PET/CT scan was performed (14 February 2019); the examination revealed an isolated, residual left ventricular tumor, 20 × 16 mm in size. Subsequently, head CT was performed, which revealed neither focal changes nor pathological contrast enhancement areas or intracerebral hemorrhage.The consecutive TTE showed that the lesion that was 14 × 10 mm in size, in the medial inferior wall ostium, had a different echogenicity. Moreover, it confirmed small tricuspid regurgitation. The TTE image was similar to that performed shortly after the surgery in the Department of Cardiac Surgery and Heart Transplantation of the National Institute of Cardiology in Warsaw. Thereafter, the woman was consulted by the oncologist who proposed further molecular diagnostics aiming at histopathological confirmation and considering a revision cardiac surgery—undertaking the radical treatment. The patient was discharged from the Department of Cardiology in Lublin in a good clinical condition on 1 March 2019. Recommendations for the patient included oral anticoagulation with VKA (warfarin) for a minimum three months, so as to maintain the INR within the target therapeutic range (2.5–3.0).The histopathological-examination hematoxylin–eosin (H&E) staining on 22 March 2019 revealed loosely lying fragments of fusiform—like transformed cells of neoplasm of a moderate cytologic atypia and a high cellularity. The interstitium was not abundant, having inflammatory infiltrations of chronic type . A neoplastic embolus was visible in the vessel’s lumen.Moreover, IHC staining was performed, and it confirmed the expression of S100 marker in almost all examined tumor cells, as well as the expression of SOX10 marker in the vast majority of neoplastic cells. In FISH examinations, there were no MDM2 gene rearrangement (LDF19/211), SS18 (LDF19/229), and EWSR1 (LDF19/250), thus excluding, accordingly, “intimal sarcoma”, “sarcoma synoviale”, and “clear cell sarcoma”.A pathomorphologist in the final conclusion suggested, taking into account the sarcomatoid melanoma (metastasis) and “MPNST, high-grade”, based on positive sox10 and s100 positive reactions. The lack of heavy cytokeratins and p40 expression spoke against myoepithelial cancer. Furthermore, the examinations were performed, aiming at indicating the driver mutation. The mutation, which has been confirmed, was the B-RAF mutation, whereas the results for NRAS and NF-1 mutations were negative.A follow-up TTE carried out on 30 March 2019, in an outpatient clinic, revealed an enlarged left atrium. The global contractility of the left ventricle was slightly impaired (LVEF ~52%). The presence of a left ventricular mass, which was 30 mm × 20 mm in size, related to its inferior wall, was confirmed. The mobility of the mitral valve posterior leaflet was reduced, exhibiting the traits of moderate mitral stenosis. New segmental contractility abnormalities appeared—the hypokinesis of inferior wall and of interventricular septum. In addition, impaired left ventricular relaxation appeared. Small tricuspid regurgitation and small aortic regurgitation were affirmed.On the basis of immunohistochemical examination result and due to the follow-up TTE confirming the tumor recurrence, the patient was urgently referred to the National Institute of Oncology in Warsaw. Considering the melanoma of an unknown origin with heart metastases as the most probable diagnosis, the intravenous treatment with Keytruda (pembrolizumab) was implemented. Pembrolizumab constitutes a potent, highly selective, fully humanized immunoglobulin (Ig) G4-kappa monoclonal antibody against PD-1 with potential immune checkpoint inhibitory and antineoplastic activities. Keytruda is used in patients with advanced melanoma and is now a standard of care in the first-line setting. Planned treatment consisted of intravenous pembrolizumab 10 mg/kg every three weeks. After the first pembrolizumab infusion, the patient was discharged and went home in a good clinical condition. Subsequent follow-up echocardiography performed on 1 May 2019 revealed no left ventricular tumor D. MoreovThe patient underwent subsequent Keytruda intravenous infusions with good tolerance of the treatment. During a successive hospitalization in the National Institute of Oncology in Warsaw, she presented the symptoms of severe vertigo and an episode of faintness. Head MRI detected an acute cerebellar vermis stroke. After clinical state stabilization, the patient was transported to the Neurology Department of Specialist Hospital in Radom (PL), aiming at her further treatment. There, another follow-up TTE confirmed the findings observed in May 2019 and definitely excluded the recurrence of a tumor.The patient has undergone all the planned pembrolizumab infusion cycles, so far, with good tolerance. Currently, she remains in a good clinical condition and does not present any cardiac symptoms. The patient goes through regular follow-up examinations, both in the National Institute of Oncology in Warsaw and in the regional outpatient clinic of the Medical University of Lublin. Presently, the origin of melanoma is still unknown, and the recurrence of the tumor has not been observed. The 66-year-old is supposed to remain under cardiological and oncological observation for life.Cardiac metastases complicate the course of neoplastic diseases . Lately,However, the prognosis for melanoma of unknown origin primary lesion (MUP) is usually better than for stage III/IV metastatic melanoma. This is confirmed by the retrospective analysis of 24 patients with identified MUP by Clerico et al. . It was A diagnosis of cardiac involvement before death is infrequent at less than 16% of patients with melanoma present with cardiac symptoms . CardiacImaging studies are essential for the diagnosis of cardiac metastasis. Chest X-ray may demonstrate cardiomegaly (“water bottle” sign) from a pericardial effusion ,25. BecaEven in the case of a firm suspicion of metastases in the heart, a differential diagnosis of cardiac masses ought to be carried out. Since neoplastic disease places the patients at a higher than average risk of thrombosis, a cardiac thrombus has to be excluded as the potential reason of a tumor. Other possible causes which need to be taken into account during differential diagnosis constitute pseudotrombi (flow-related changes), anatomic variants, and primary cardiac neoplasms. It is important to keep in mind that metastatic cancer may present as malignant pericardial effusion . The rarReferring to histopathological examination—to the best of our knowledge—the expression of S100 family proteins relates to melanoma progression and clinicopathology. It is widely recognized that the differential expression of these S100 family proteins is directly associated with the development and progression of melanoma malignum. They can thus be used as an independent prognostic indicator in patients with melanoma, especially in the early stages of disease. SOX10 is one of the recently known immunohistochemical markers appropriable in the diagnosis of tumors arising from melanocytes. A large number of reports regarding very high sensitivity of the SOX10 protein in melanoma may indicate that it is a good marker in diagnosing this neoplasm. As opposed to the S100 marker, SOX10 is not expressed in dendritic cells. Limited positive background effect indicates that SOX10 might be an even better diagnostic marker than an S100 one. Generally speaking, the most common driver mutation that leads to characteristic overactivation in the MAPK pathway  is the B-RAF mutation. Unfortunately, treatment with BRAF inhibitors has met challenges, as patient responses began to drop due to the development of resistance to these inhibitors which paved the way for development of immunotherapies and other small-molecule-inhibitor approaches to address this.Treatment with immune checkpoint inhibitors has increased long-term survival outcomes in patients with advanced melanoma to as high as 50%; however, individual response can vary greatly. Because of the fact that IHC staining also showed the expression of PD-1 ligand, the therapy with pembrolizumab was commenced. PD-1 is expressed on the surface of cytotoxic T cells, and its ligands-programmed death ligands (PD-Ls) 1 and 2 are expressed on both tumor and immune cells. The inhibition of interactions between PD-1 and PD-L1/PD-L2 by an anti-PD-1 antibody causes the reactivation of cytotoxic T cells, leading to the recognition and destruction of melanoma cells. Diagnostic immunohistochemical assays of PD-L1 have been approved by the FDA (Food and Drug Administration). Pembrolizumab can be characterized as a therapeutic antibody that selectively binds to and blocks PD-1 located on lymphocytes. Inhibiting PD-1 on the lymphocytes prevents it from binding to ligands that deactivate an immune response, permitting the immune system to target and destroy cancer cells; the same mechanism also allows the immune system to attack the body itself, and checkpoint inhibitors, like pembrolizumab, evoke immune-dysfunction adverse effects as a result. Tumors that have mutations that cause impaired DNA mismatch repair, which frequently results in microsatellite instability, tend to generate miscellaneous mutated proteins that could serve as tumor antigens; pembrolizumab seems to facilitate clearance of any such tumor by the immune system, by preventing the self-checkpoint system from blocking the clearance.What is vital for the patient’s outcome is an early recognition of cardiac metastases. Both invasiveness of the tumor and its anatomic location constitute the factors influencing the workability of cardiosurgical treatment . The patAccording to previous experience and to the favorable long-term survival of our MUP patients, a multidisciplinary approach involving different specialists is mandatory . This wa


Pulmonary vein thrombosis (PVT) is a rarely encountered disease entity with varied clinical presentations. It has been reported to be associated with underlying lung malignancy in multiple case reports. Diagnosis can be challenging due to nonspecific symptoms on presentation. Herein, we report a 67-year-old male patient with a history of extensive smoking and chronic obstructive pulmonary disease (COPD) who presented with multiple hemoptysis episodes. CT scan of the chest with contrast showed multiple right lower lobe (RLL) lung masses and a thrombus in the inferior pulmonary vein. After various imaging modalities and transthoracic biopsy of the lung mass, the patient was diagnosed with pulmonary vein tumor thrombus secondary to poorly differentiated bronchogenic carcinoma with intracardiac extension. The patient was started on Eliquis for anticoagulation and is currently in the process of beginning chemo/radiation therapy for the underlying malignancy. Pulmonary vein thrombosis (PVT) is a rare and underdiagnosed clinical entity. The majority of cases are associated with primary or metastatic lung malignancy and lung surgery -- lung transplantation or lobectomy . Other aA 67-year-old male with a history of extensive smoking and chronic obstructive pulmonary disease (COPD) presented to the hospital for evaluation of multiple episodes of hemoptysis and abnormal findings on CT scan of the chest. His symptoms started a few months prior to presentation with a productive cough, for which he received several rounds of antibiotics prescribed by his primary care physician. His symptoms did not improve and progressed to hemoptysis. A chest X-ray showed a right suprahilar nodular density. CT scan of the chest with contrast was then ordered and revealed multiple masses in the right lower lobe (RLL) suspicious for lung carcinoma. A thrombus extending through the RLL pulmonary veins into the left atrium was also noted Figure .Upon admission to the hospital, the patient was evaluated by pulmonary and oncology teams, and he was started on a heparin drip for anticoagulation. The patient underwent a trans-thoracic needle biopsy of the RLL mass, and pathology was consistent with the diagnosis of a poorly differentiated malignant neoplasm Figure . Trans-tTrans-esophageal echo and cardiac MRI were done as an outpatient confirming a 1.7 cm x 1.4 cm x 1.3 cm left atrial tumor thrombus mass extending from the RLL lung mass through the right inferior pulmonary vein (Figures Pulmonary vein thrombosis is a rare yet potentially serious and life-threatening clinical condition. Most of the patients are asymptomatic or have nonspecific symptoms such as cough, hemoptysis, weight loss, and dyspnea as a result of pulmonary edema or infarction -4. In caThe diagnosis of PVT is usually challenging in the setting of nonspecific symptoms, and it is made based on the findings of multiple imaging modalities. Newer CT techniques have made identifying PVT possible in a similar manner to which pulmonary arterial emboli are detected. Using the pulmonary venous phase of contrast CT of the chest will show a filling defect in the pulmonary vein and sometimes an extension of the defect into the left atrium, similar to our case , 3. EchoThere is no clear consensus regarding the treatment of PVT. The choice of therapy mainly depends on the clinical condition of the patient and the underlying etiology. In the absence of bleeding, anticoagulation is the mainstay of therapy to prevent clot progression and thrombus shedding. A literature review did not indicate the preferred duration of anticoagulation or a preference between oral vitamin K antagonist, low molecular or unfractionated heparin , 10.In our case, the patient’s bronchogenic carcinoma extending through the right inferior pulmonary vein into the left atrium was classified as T4 and belongs to stage IIIb. In this type of malignancy, the addition of surgical resection to chemotherapy and radiotherapy treatment is still controversial, with a poor prognosis postoperatively. If radical resection is to be considered, it should be done under cardiopulmonary bypass to decrease the risk of systemic seeding or embolization of the tumor -12.With the advancement of various imaging modalities and their broad utilization, clinicians will likely face an increased rate of PVT detection and diagnosis. We describe a rare case of pulmonary vein tumor thrombus with left atrial extension secondary to bronchogenic carcinoma. PVT usually presents with nonspecific symptoms, which makes early recognition paramount for successful treatment of the patient and for preventing severe complications. Further studies and experience are required to establish standardized treatment protocols.


Complete agenesis of the olfactory bulbs (OB) constitutes a rare cause of congenital anosmia, which is more often associated with cerebral malformations or genetic disorders.The authors present a very rare case of a 28-year-old caucasian male with complaints of complete lack of the sense of smell since childhood. Radiologic study confirmed complete bilateral agenesis of the OB, with no other radiologic or clinical findings, such as delayed sexual development. Laboratorial investigation confirmed no signs of adrenocortical insufficiency.Despite being immature in the term neonate, the OB are already functional at birth. Congenital agenesis of the OB can occur as an isolated deformity. On the other hand, it is a constant feature of several genetic syndromes, such as Kallmann’s syndrome or alobar holoprosencephaly. Most cases of isolated congenital anosmia occur sporadically, with no family history of the condition. Given the fact that no curative treatment is available, counselling for daily living precautions should be given to all patients. This is one of the first case reports about complete and isolated agenesia of the OB diagnosed in adulthood. The authors highlight the need to exclude several genetic syndromes that may be associated, albeit in a dissimulated way. Complete agenesis of the olfactory bulbs (OB), also known as arrhinencephaly, constitutes a quite rare cause of congenital anosmia. Its incidence is estimated at 700 per 100,000 births. When present, anosmia is the unique nasal complaint and it is always non-progressive. This condition may occur as an isolated defect  or it can be associated with other rare cerebral malformations or genetic disorders. Kallmann’s syndrome, with a prevalence of 1 in 10,000 men, is the most likely differential diagnosis but it is associated with isolated gonadotropin-releasing hormone deficiency and delayed sexual development .Isolated congenital anosmia is a very rare condition characterized by a complete smelling defect that is present from birth in otherwise normal subjects. Complete agenesis of the OB in adults without any other clinical and radiological findings and with normal sexual characteristics is very difficult to be detected. However, clinical evidence of absent olfaction and MRI are sufficient for diagnosis of OB agenesis or dysgenesis. Molecular studies can also reveal specific genetic mutations -5. In suSo far, and to the best of our knowledge, there are only a few published case reports about isolated congenital anosmia associated with complete agenesia of the OB detected in adulthood . Here weA 28-year-old Caucasian man, an informatics engineer, with no relevant personal or family medical history, was refereed from his family doctor to Otorhinolaryngology evaluation for complaints of complete lack of the sense of smell since childhood. The patient and his family noticed the problem since childhood, but the symptom was always devalued. There was no previous history of trauma, drugs consumption or smoking habits, exposure to dust, woods, paint mists or other chemical agents or history of a previous nasal surgery. The patient had normal development and sexual function and activity. He had no history of trauma, surgery, chemical exposure or infection.other nasal complaints, namely nasal obstruction, rhinorrhea, frontal headache or epistaxis. He denied positive family history for any genetic disorder.Otorhinolaryngologic examination was normal. There were no endoscopic nasal signs of trauma, rhinosinusitis, septal deviation or other anatomic malformations, nasal masses, rhinorrhea or foreign bodies. Sexual and cognitive development were also normal and neurologic exam found no evidence of central or other cranial nerves impairment.We do not have olfactometry at our institution, but an olfactory test was performed with vanilla and freshly ground coffee, without any response. Radiologic investigation started with Computorized Tomography, which was normal, and MRI. Axial and coronal T1W and T2W thin slice olfactory bulb/tract MRI showed an isolated, complete and bilateral agenesis of both olfactory bulbs with no other cerebral and nasal malformations  gestation. However, despite being immature in the term neonate, the OB are already functional and olfactory reflexes are present after 28-32 weeks gestation. So, olfactory maturation remains incomplete at term and has a long course during postnatal development .This case of anosmia is unlikely to have a secondary or acquired origin because there wasn't any event reported by the patient that triggered this complaint and it had been present always, according to the patient. As such, the authors will mainly discuss the differential diagnosis associated with congenital and non-acquired anosmia.Congenital agenesis of the OB can occur as an isolated defect  . On the Most cases of isolated congenital anosmia occur sporadically in people with no family history of the condition . Only a Despite being rarer than agenesis, supernumerary OB can also be associated with impaired olfaction. Fusion of olfactory bulbs may occur in some cases in which the bulb appears unilaterally absent on gross examination ,10.In children and teenagers, the diagnosis is challenging. Smell disorders are rare in childhood and are often underestimated. Obstructive and inflammatory causes like adenoid hypertrophy, hypertrophy of the inferior turbinates, septal deviation, nasal polyps, and juvenile angiofibroma are the most frequent causes of hyposmia at that age. Without any other associated symptom , all of these diagnoses should be excluded, although they are less likely.Given the loss of warning smell sensation, counselling for daily living precautions should be given. The compensatory mechanism for their inability to detect smells such as the detection of facial expressions by others should be evaluated.Kallmann’s Syndrome remains the main differential diagnosis of congenital anosmia. Diagnosis of isolated congenital anosmia with normal sexual characteristics is difficult, especially in adulthood. This case report reminds us of an often forgotten entity and highlights the need to exclude several genetic syndromes that may be associated, albeit in a dissimulated way. Given the loss of warning smell sensation, counselling for daily living precautions should be given to all patients.


Lipomas of the gastrointestinal tract are uncommon, benign non-epithelial tumors detected incidentally during surgery or endoscopy. Rectal lipomas are extremely rare. Patients may be asymptomatic or present with rectal bleeding, constipation, tenesmus and signs of intestinal obstruction. Preoperative diagnosis is challenging. Management consists of simple observation, endoscopic or laparoscopic removal, and open surgery.We present a case of an elderly male admitted to the Department of Surgery of a general hospital in Crete, complaining of a protruding rectal mass during defecation. CT raised the diagnostic suspicion. The mass was removed by trans-anal excision. Histopathology of the resected specimen confirmed the diagnosis. The patient had an uneventful postoperative course and was discharged home at the second postoperative day. Colonic lipomas represent unusual benign non-epithelial tumors detected incidentally during surgery or colonoscopy . The entA 76-year-old man presented to the Surgery Department of the Saint George General Hospital of Chania, Crete, due to a rectal mass that protruded during defecation for the last four months. He denied a change in his bowel habits. The patient reported no history of anemia, episodes of diarrhea or rectal bleeding. Clinical examination was normal and no signs of systemic infection were noted. Rectal examination revealed a firm well-circumscribed hyperemic mass located in the anterior wall of the rectum, above the dentate line Figure .Results of the laboratory work-up including complete blood count, renal and liver function tests, blood coagulation and carcino-embryonic antigen were within normal limits. A colonoscopy was performed and a sub-mucosal mass was detected. Samples were obtained for histological examination, which was inconclusive.Contrast-enhanced abdominal CT disclosed the presence of a well-defined mass of 4.5 cm × 4.2 cm  [ cm 2,3,,3,9. SmaManagement consists of observation for asymptomatic patients, endoscopic or surgical removal for symptomatic or those with associated complications ,10. EndoIn this case, we aimed to highlight a rare presentation of an intestinal lipoma as a rectal prolapse. Accurate diagnosis of anal tumors poses a significant preoperative diagnostic difficulty. Surgeons and clinicians involved have to be aware of this rare entity and consider this in the differential diagnosis of patients admitted with rectal prolapse.