Lipomas are mesenchymal neoplasms relatively uncommon in the oral cavity. Lipomas can exhibit histopathological features mimicking atypical lipomatous tumors (ALT) or dysplastic lipoma (DL) in the presence of degenerative changes. Relevantly, immunohistochemistry assists in the correct diagnosis. Herein, we present the case of a 54-year-old male with a sessile nodule located on the dorsum of the tongue. The histopathological analysis showed a diffuse, non-circumscribed adipocytic proliferation constituted by cells of variable size containing cytoplasmic vacuoles and displaced nuclei, some resembling lipoblasts supported by fibrous connective tissue stroma. By immunohistochemistry, tumor cells were positive for vimentin, S100, FASN, CD10, and p16. Rb expression was intact. Moreover, CD34, p53, MDM2, and CDK4 were negative. After 2-year of follow-up, no alteration or recurrence was observed. In conclusion, MDM2, CDK4, p53, and Rb immunomarkers can be used reliably to differentiate benign lipoma with degenerative changes from ALT and DL. Clinically, lipomas are usually soft, well-circumscribed, mobile, slow growing, and asymptomatic.A 54-year-old man was referred for evaluation of a nodular lesion on the dorsal surface of the tongue that evolved over several years. The medical history was noncontributory. Intraoral examination revealed a sessile nodule, similar in color to the adjacent normal-appearing oral mucosa, measuring approximately 1.2 × 1.0 × 0.4 cm, located on the dorsal region of the tongue . An irre,-Benign lipomas are the most common mesenchymal tumors of soft tissue. However, lipomas are relatively uncommon in the oral and maxillofacial regions. In the oral cavity, lipomas may affect various anatomical sites, including the buccal mucosa, tongue, lip, palate, and floor of the mouth.About 17 cases of intraoral lipoma with degenerative changes have been reported, all of them initially misdiagnosed as ALT.,The ALT/WDL is the most common type of liposarcoma , usually affecting the retroperitoneum and thighs of middle-aged adults, being rare in the oral cavity.,,To date, 73 cases of intraoral ALT/WDL have been reported, slightly predominant in women with a mean age of 55. The most common oral location was the tongue 38 cases), followed by the lip, floor of the mouth, gingiva, and palate. Most of these cases appeared as a circumscribed, indolent, asymptomatic, firm, or elastic submucosal mass. The mean size of the tumor was 2.5 cm, with a mean duration of 30 months. Recurrence was reported in 9 cases, with no metastases or deaths. cases, f,-,-,Histologically ALT/WDL are characterized by presenting mature fat with variably sized adipocytes and spindle cells with enlarged, hyperchromatic nuclei located between adipocytes and/or within dense fibrous septa and in a perivascular distribution. However, these classic features are not always present, and, as such, without the help of immunohistochemistry, ALT/WDL may not be properly diagnosed.,,The DL, a recently described fatty tumor, has a distinctive morphology independent of the anatomic site. This tumor shows male predilection, mainly affecting the neck and back. No case involving the oral cavity has been reported to date.It should be noted that benign symmetrical lipomatosis (BSL), a rare disorder characterized by diffuse, multiple symmetric, and non-encapsulated fat tissue masses, often affecting the face, neck, and upper trunk can also manifest intraoral involvement. Approximately 8 cases of BSL with lingual involvement have been reported.,,The treatment of choice for benign lipoma is conservative surgery, and recurrences are infrequent.


Intracranial artery dissection is an uncommon but possible cause of ischemic stroke, and is usually diagnosed based on imaging findings such as mural hematoma and dissection flap. However, it is challenging to recognize the underlying dissection in cases of acute large vessel occlusion. In this report, we present a case of acute internal carotid artery occlusion, in which the underlying dissection of the paraclinoid segment was found during the thrombectomy procedure. Two thrombectomy procedures failed to recanalize the acute internal carotid artery occlusion without removing any clot. Angiography performed during a Trevo stent retriever deployment in the first pass showed obscure contrast defects in the stent strut with temporary flow restoration. In the next pass, the appearance of the contrast defects changed and a parallel linear contrast appeared on the outside of the vessel wall. These angiographic findings were identified as mural hematoma and dissection flap, indicating dissection of the paraclinoid as the cause of the occlusion. During antiplatelet loading and preparation of a dedicated intracranial stent, the Trevo stent retriever was left deployed again at the occlusion site to maintain the blood flow. After permanent stenting with an Enterprise stent, angiography revealed complete recanalization. The patient recovered fully after the procedure. In the present case, stent retriever deployment revealed the hallmarks of dissection on angiography, such as mural hematoma, dissection flap, and temporal morphological changes, by restoring the blood flow temporarily. Such angiographic findings can provide useful information on the occlusion characteristics and real-time feedback for optimal treatment strategy. Spontaneous intracranial artery dissection is an uncommon but known cause of ischemic stroke ,2. IntraThis diagnostic difficulty may pose a challenge in case of mechanical thrombectomy for patients with acute ischemic stroke due to acute large vessel occlusion, because there is limited time to obtain sufficient information from detailed images, including various MRI sequences In this article, we present a case of acute intracranial internal carotid artery (ICA) occlusion wherein the underlying dissection of the paraclinoid segment was found during the thrombectomy procedure. This case highlights the diagnostic utility of angiographic findings during stent retriever deployment to identify the cause of the occlusion.A man in his early 60s with a chief complaint of headache was admitted to our hospital 60 min after onset. Neurological examination showed mild dysarthria, left hemiparesis, and left hemispatial neglect. The initial National Institutes of Health Stroke Scale score was 9. The patient did not complain of any pain and denied any trauma to the head or neck. Additionally, no signs suggesting connective tissue diseases were noted. MRI revealed occlusion of the right ICA without apparent acute ischemic changes  and B. TThe endovascular procedure was performed via femoral access under local anesthesia. Heparin was not administered because of the ongoing administration of tissue plasminogen activator. A 9 French balloon guiding catheter was placed in the right cervical ICA. Initial angiography revealed occlusion of the right ICA . After tAdministration of argatroban was started immediately after the procedure, and was continued for 48 h alongside dural oral antiplatelet therapy. Computed tomography performed after the procedure did not reveal any intracranial hemorrhage. The day after the procedure, MRI revealed successful revascularization without any infarction  and B. TWe reported a case of acute intracranial ICA occlusion, in which the underlying dissection of the paraclinoid segment was found during the thrombectomy procedure. In the present case, angiography during stent retriever deployment revealed the hallmarks of dissection, such as the mural hematoma, dissection flap, and temporal morphological changes.This case of acute ICA occlusion was found during the thrombectomy procedure to be caused by dissection of the paraclinoid segment. To date, there exist a rather limited number of case studies on acute large vessel occlusions due to intracranial arterial dissection ,10. LabeIn the present case, the etiology was considered spontaneous dissection without any specific reasons. However, iatrogenic dissection cannot be ruled out because it is well known that vascular injury can occur with thrombectomy procedures ,16. In aThis case highlights the diagnostic utility of angiographic findings during stent retriever deployment to recognize the underlying dissection. Our previous studies have shown that angiographic images during stent retriever deployment can provide useful information Informed consent has been obtained from the patient's family member for publication of the case report and accompanying images.


Locoregional recurrence and metastasis to the liver, peritoneum, and lung are the most common recurrent patterns of pancreatic ductal adenocarcinoma (PDAC) after radical resection. Recurrence in the abdominal wall is extremely rare. Herein, we report our experience with a patient who had recurrent PDAC in the abdominal wall with long-term survival by means of multidisciplinary therapy.A 76-year-old Japanese woman was diagnosed with resectable pancreatic tail cancer. She underwent distal pancreatectomy with regional lymphadenectomy after two cycles of gemcitabine plus S-1 as neoadjuvant therapy. She also received eight cycles of S-1 as adjuvant chemotherapy. Approximately 14 months after the initial surgery, imaging examinations identified a mass suggesting recurrence in the abdominal wall at the middle wound that involved the transverse colon. After two cycles of gemcitabine plus nab-paclitaxel, chemoradiotherapy (S-1 plus 45 Gy) and seven cycles of modified FOLFIRINOX  were administered. The patient did not develop any new recurrent lesions during chemotherapy and chemoradiotherapy. Therefore, the recurrent lesion in the abdominal wall and the involved transverse colon were resected. We confirmed the lack of peritoneal dissemination during surgery. Pathological examination revealed that the resected lesion was metastasis of primary PDAC, and the surgical margin was 1 mm. However, re-recurrence localized in the abdominal wall was detected 9 months later. The re-recurrent lesion was diagnosed as local recurrence of the first recurrent lesion. We performed a second resection of the abdominal wall using a femoral myocutaneous flap to achieve sufficient surgical margin. The pathological findings of the resected specimen were the same as those of the previous specimens, and the resection margin was negative. The patient’s postoperative course was uneventful. Seven years after the initial surgery and 3 years and 7 months after the third surgery, the patient is alive with no signs of recurrence.Long-term survival could be achieved by radical resection with sufficient surgical margins for recurrence of PDAC in the abdominal wall if new other recurrent lesions, including peritoneal dissemination, are prevented through chemotherapy. Pancreatic ductal adenocarcinoma (PDAC) is becoming more common and is associated with a very poor prognosis , 2. Even18F-fluorodeoxyglucose (FDG)-positron-emission tomography (PET)/CT showed high FDG accumulation in the pancreatic tumor and no other abnormal accumulation suggesting distant metastasis or other solid tumors  plus S-1 (100 mg/body on days 1 through 14 of a 21-day cycle), after which the tumor size decreased slightly from 35 to 32 mm, and her serum CA19-9 levels decreased to 75.3 U/mL. No serious adverse events were observed during chemotherapy.A 76-year-old Japanese woman was admitted to our hospital because she was incidentally found to have a pancreatic tumor during a regular health checkup. The patient did not have any family members with pancreatic cancer. Her serum carbohydrate antigen 19-9 (CA19-9) level was 217.0 U/mL . Other laboratory test results, including serum carcinoembryonic antigen level, were normal. Abdominal enhanced computed tomography (CT) showed a 35-mm hypovascular mass located in the pancreatic tail. The tumor involved the splenic artery and veins . The patient’s postoperative course was uneventful. She received eight cycles of adjuvant S-1 (100 mg/body on days 1 through 14 of a 21-day cycle).2 and nab-paclitaxel 125 mg/m2 on days 1, 8, and 15 of a 28-day cycle) were administered. During chemotherapy, the tumor size decreased slightly, and no other distant metastases appeared. As we expected the resection range to reduce and surgical margins to be negative owing to tumor downsizing, we added chemoradiotherapy (45 Gy in 4 weeks with S-1 at a dose of 100 mg/body for the first 21 days). Subsequently, two cycles of GnP were administered as maintenance therapy, but the tumor slightly increased in size. Therefore, modified FOLFIRINOX  was administered  showed a 30-mm mass in the abdominal wall at the middle wound that involved the transverse colon, suggesting postoperative recurrence Fig. a. CT wasNine months after resection of the recurrent lesion, abdominal contrast-enhanced MRI showed a new mass in the abdominal wall at the site of the previous wound Fig. a. FDG-PERecurrence of PDAC often appears within 2 years after surgery and frequently occurs in the liver, peritoneum, locoregional organs, or lung –9. PostoWe searched the PubMed database for studies published in English using the terms “abdominal wall recurrence” and “pancreatic cancer” or “pancreatic ductal adenocarcinoma”. There may be publication bias, but to the best of our knowledge, there have been only two previous reports of pancreatic cancer with postoperative abdominal wall recurrence , 11. BilMost metastatic and recurrent PDACs develop multiple tumors and become uncontrolled in a short period of time, requiring a shift in treatment from chemotherapy to best supportive care. However, there are rare cases of sporadic recurrence or oligo-metastases that can be controlled by multidisciplinary therapy that combines multidrug chemotherapy and radiotherapy , 5, 6. LAfter resection of the first recurrent lesion, pathological examination revealed the surgical margin of 1 mm and the second recurrence occurred at the same site. It is presumed that cancer cells invading beyond resection line were left between the thin sections that were evaluated every 5 mm. Since insufficient surgical margins might cause the second recurrence, we resected the lesion with sufficient surgical margins and used a femoral myocutaneous flap. Although the necessity and duration of chemotherapy before surgical resection for recurrent lesions in the abdominal wall that involve intraabdominal organs are unclear, complete resection with sufficient surgical margins could lead to long-term survival if peritoneal dissemination or other distant metastasis do not appear during the chemotherapy. Accumulation and analysis of clinical characteristics and therapeutic effects are important to establish the optimal therapeutic strategy for rare presentations, such as PDAC recurrence in the abdominal wall.Long-term survival may be achieved with radical resection with sufficient surgical margins for recurrence of PDAC in the abdominal wall when it is sporadic and can be controlled with chemotherapy.


Modern strategies of multimodal therapy for malignant diseases have significantly increased patient survival rates.2The aim of this study was to present a case of a 23-year-old female patient with secondary ES of the temporo-occipital region that occurred 12-years after medulloblastoma treatment.A 23-year-old female patient was admitted to our clinic due to bleeding from the left ear, pain and swelling of the retroauricular region. Clinical examination revealed the presence of granulations and blood in the left external auditory canal. From the personal history, we learned that the patient had undergone surgery for medulloblastoma 12-years ago, after which there were remaining signs of peripheral facial nerve palsy (House-Brackmann score III) and cerebellar syndrome. The patient received TD 20 Gy in the head region and TD 35 Gy in the spinal region. In chemotherapy, VI cycles were applied by the PECKER protocol ‒ Lomustine (CCNU), Vincristine (VCR) and Cisplatin (CDDP).Computed Tomography (CT) of the temporal bone revealed sclerotically altered and destroyed left occipital and temporal bone with signs of inflammation in mastoid cells .Figure 1Magnetic Resonance Imaging (MRI) of the endocranium indicated extensive post-treatment sequelae in the cerebellum region, with no clear signs of the tumor recurrence. Pathological content was present in the mastoid cells and tympanic cavity with the structurally altered left temporal and occipital bone.Digital Subtraction Angiography (DSA) showed a hypervascular tumor in the projection of the left temporal bone with a pronounced fistulous component. The tumor was irrigated from the left a.carotis externae, the dural branches of the left a.carotis internae, as well as the dural branches of the left vertebral artery .Figure 2Chest CT scan indicated numerous, predominantly calcified, micro- and macronodular changes in the lungs, and osteoblastic deposit on the Th1 vertebral body.Ultrasound examination of the abdomen was normal.Tumor mass was biopsied by retroauricular approach under general anesthesia. Intraoperatively, the mastoid cortex was destroyed, and when taking a biopsy of soft tissue tumor from the mastoid cavity, profuse venous bleeding occurred, which was difficult to control.Pathohistological and immunohistochemical analysis showed that the tumor corresponded to a high-grade secondary mesenchymal tumor from the Ewing’s sarcoma group . Tumor cThe patient was presented to the Oncology Council which decided to start treatment with VIDE  protocol. On the first day, the therapy was discontinued due to breathing problems, and a new chest CT scan showed a massive progression of metastatic lung disease. Unfortunately, the patient passed away soon after.The development of ES in patients treated for other malignancies has been described in the literature, usually in the form of case reports or short series.In the largest series of secondary ES, the time elapsed from the primary malignancy diagnosis to the secondary ES diagnosis was on average 64-months.Based on the latest findings, ES is assumed to be of neuroectodermal origin. The very degree of neuronal differentiation itself was used to histopathologically subclassify tumors from the ES family, using standard and electron microscopy or immunohistochemistry with neuronal markers, including neuron-specific enolase, Leu-7, or synaptophysin. Overexpression of CD 99, a transmembrane protein encoded by the MIC-2 gene, is one of the characteristics of this tumor.ES are characterized at the molecular level by the existence of a translocation between the EWSR1 gene and a member of the ETS gene family resulting in the translocation of t11;22)(EWS-FLI1).2(q24;q12Risk factors leading to secondary malignant neoplasms include age, hereditary predisposition, and side effects of primary malignancy therapy.Alkylating agents increase the relative risk of secondary malignant neoplasms by 1.4‒2.2 times.Applebaum et al. state that in patients with secondary ES the 5-year overall survival is 34.3% compared with 52.2% for patients with primary sarcoma.Although modern malignant tumor treatment has significantly improved survival rates, there is a need for careful identification of patients at risk of developing secondary malignancy. Secondary ES of the temporal bone is extremely rare but must be considered in the differential diagnosis of hypervascular lesions in patients previously treated for malignancy.The authors declare no conflicts of interest.


Leiomyomas are a common type of benign soft tissue tumor arising from smooth muscle, most often occurring within females’ genitourinary and gastrointestinal tract. However, primary leiomyomas of the chest wall residing in the extra-pleural space are an extremely rare subset of leiomyomatous lesion presentation. We present a case of a fifty-two-year-old male who initially presented complaining of dyspnea worsening with exertion. Computed tomography imaging was performed showing an extra-pleural mass residing under the left sixth rib. Subsequent core needle biopsy and immunohistochemical staining were performed, and the definitive diagnosis of primary leiomyoma of the posterior mediastinal chest wall. Although extremely rare, this neoplastic condition should be included in your differential diagnosis when diagnostic imaging reveals a benign mass residing in the extra-pleural space, and subsequent biopsy specimens consist of smooth muscle fibers. Primary neoplasms arising in the pleural and extra-pleural space are an abnormal finding since 75% of tumors found in this area can be attributed to metastases from around the body, with the remaining 25% being attributed to malignant pleural mesothelioma and solitary fibrous tumors ,2. ThereTo our knowledge, this is the most comprehensive and up-to-date review of primary pleural leiomyoma cases.In June 2015, a fifty-two-year-old male presented to the clinic with a chief complaint of several episodes of dyspnea on exertion. His past medical history was notable for mental retardation, schizophrenia, hepatitis C and chronic obstructive pulmonary disease (COPD). He also has a history of tobacco abuse and currently resides in a nursing home facility. A chest radiograph was performed showing scattered granulomas with kyphosis and compression deformities of the thoracic spine. A year later, and with no resolution of symptoms, a non-contrast CT scan of the chest was scheduled. The patient exhibited a unilateral extra-pleural mass residing over the posterior portion of the left 6th rib, measuring 4.9 × 3.9 × 2.5 cm along its maximum anteroposterior, transverse, and craniocaudal dimensions, respectively. In addition, subtle erosive changes were noted in the adjacent costovertebral junction . A CT-guPrimary extra-pleural leiomyoma of the lung is an extraordinarily rare event, with only 14 cases being reported in medical literature to date. Therefore, a comprehensive literature analysis was conducted on PubMed with the keywords “pleural primary leiomyoma” as search criteria. Twelve manuscripts, reporting on fourteen patients, were discovered and determined eligible for analysis. The patient reported on in this manuscript was included as well .Leiomyomas are benign smooth muscle tumors that were first discovered and characterized in 1854 . Most caThe majority of individuals with leiomyoma are asymptomatic for many years and only diagnosed incidentally upon physical exam or during imaging for other non-related problems ,18. Of tPleural leiomyoma is a benign smooth muscle tumor with low malignant potential. It has the potential for local invasion into surrounding structures. The increased size of the tumor with the involvement of mediastinum makes it difficult to complete resection. It has been reported that pleural leiomyoma can disseminate through the needle tract of FNA biopsy. Thus, an FNA biopsy should be avoided if the tumor can be completely resected .The diagnosis is mainly based on diagnostic imagining and histologic analysis. Typical radiographic findings on CT scans include a well-encapsulated, solitary lesion ranging from a few millimeters to several centimeters, with minimal invasion of adjacent structures . Of the The role of PET/CT in precision medicine is an essential part of determining the staging of disease, recurrence, residual disease, and evaluating the response of patients to therapy. Combining PET with CT provides high sensitivity with PET camera for tracer distribution while CT provides anatomic localization with precision, thus making PET/CT a sensitive and a more accurate modality for evaluating malignancies .No definitive treatment guidelines have been established for this condition; however, the general practice of complete surgical resection is preferred due to the well-defined and minimally invasive nature of the tumor. Thirteen of the fifteen patients elected this route of treatment . AlthougPrimary extra-pleural leiomyoma is an extremely rare neoplastic proliferation of smooth muscle origin arising in the extrapleural cavity of the lungs. Diagnostic imaging and pathological analysis are essential for distinguishing from other pleural cancers such as mesothelioma and solitary fibrous tumors, as well as other leiomyomatous lesions of the lung. Overall, the condition has an excellent prognosis with the vast majority of patients electing for complete surgical resection with little evidence to suggest future recurrence. In conclusion, primary extra-pleural leiomyoma should be included in your differential diagnosis when an extra-pleural mass is found on diagnostic imaging, and subsequent histological analysis reveals a specimen absent of malignant features and exhibiting smooth muscle fibers.


Segmental testicular infarction is an uncommon condition, of which the majority of cases are idiopathic. Cases associated with atherosclerotic disease are extremely rare, with only two other cases reported in the literature to our knowledge. We report the case of a 71-year-old man who presented with left testicular pain and a mass. Ultrasound imaging confirmed an upper pole left testicular mass, and he subsequently underwent radical inguinal orchidectomy for presumed testicular malignancy. Histological analysis revealed a segmental testicular infarction related to arterial atheroma. Segmental testicular infarction can mimic other pathologies, such as testicular torsion or cancer, resulting in misdiagnosis and potentially unnecessary surgery. Increased awareness of the risk factors and clinical features may help clinicians identify and appropriately manage this uncommon pathology. Segmental testicular infarction is an uncommon cause for acute scrotal pain or scrotal mass, representing less than 1% of these patients -6. SegmeA 71-year-old male, known smoker, presented to his general practitioner with subacute left scrotal pain, ongoing for approximately three months. He had a significant past medical history of peripheral vascular disease with right critical limb ischaemia requiring recent right common femoral endarterectomy and femoropopliteal atherectomy, bilateral deep vein thromboses (DVT) with post-phlebitic syndrome, and chronic obstructive pulmonary disease (COPD). He was taking appropriate secondary preventative medications for atherosclerotic disease, in addition to apixaban.He had no history of urinary tract or sexually transmitted infections and had a negative urinalysis and urine culture. He denied previous scrotal trauma, haematuria, or fever. Initial clinical examination findings were a hard mass in the upper pole of the left testicle, with a normal right testicle apart from a small epididymal cyst. Testicular tumour markers were within normal ranges =3 ng/mL; human chorionic gonadotropin (HCG)<2 IU/L; lactate dehydrogenase (LDH)=214 units/L), and no significant abnormalities were detected on full blood count, renal function, or C-reactive protein (CRP). An ultrasound was performed which revealed a 19 mm x 17 mm left upper pole testicular mass, with hyperechoic flecks and no vascularity demonstrated (Figures A left testicular malignancy was suspected, including lymphoma, teratoma or seminoma. Following counselling, the patient opted for radical surgery over active monitoring. He underwent a left radical orchidectomy via an inguinal incision. Intra-operative findings were a firm lesion at the upper pole of the left testis, suggestive of a testicular tumour. The operation was uncomplicated, and the patient was discharged the same day. He was reviewed in the clinic one month post-operatively and had made a full recovery.A macroscopic examination of the specimen revealed a presumed solid tumour located in the upper pole, with the tunica vaginalis moving freely over the tumour. Microscopic examination identified the lesion as an area of segmental infarction with necrotic ghost tubules and vessels containing fibrin. Some of the subcapsular arteries were severely atheromatous with cholesterol clefts within one of the plaques. The overall appearance was of an ischaemic testicular infarct-related to arterial atheroma, with no evidence of malignancy.Global testicular infarction is common and, in most cases, is secondary to testicular torsion . In contIt is hypothesised that segmental areas of the testis are functional end organs, explaining why arterial or venous obstruction can lead to segmental infarctions. The testicle is supplied by three arteries: the testicular artery, the deferens artery, and the cremasteric artery. The primary blood supply is from the testicular artery, originating from the abdominal aorta, which subsequently divides into an anterior branch supplying the superior aspect, and a posterior branch supplying more of the inferior aspect. The posterior branch receives collateral blood flow from the deferens and cremasteric arteries. This may explain the increased incidence of superior segmental testicular infarcts ,11, as wIn most cases of segmental testicular infarction, an underlying cause is not identified . HoweverClinical diagnosis of segmental testicular infarction is often challenging due to its non-specific presentation with scrotal pain and/or testicular mass, often mimicking testicular torsion or tumour . Basic iIn cases of diagnostic uncertainty, a period of close observation with serial ultrasound and tumour markers may be a reasonable approach, especially in young patients and those wishing to preserve fertility ,7,17. HoIf clinical or radiological features fail to confirm the diagnosis, histological confirmation is required. In this case, the patient preferred the certainty of surgery, and hence a radical inguinal orchidectomy was performed. For patients opting for radical surgery, it is imperative to counsel them on the possibility of benign histological findings, particularly for older patients presenting outside the typical age group for testicular tumours . SeveralIn conclusion, segmental testicular infarction remains a diagnostic challenge for the clinician due to its low incidence and non-specific presentation that mimics other scrotal pathologies. It is an important differential diagnosis to consider, as recognition can avoid unnecessary orchidectomy. Segmental testicular infarction secondary to arterial atheroma is extremely rare, however, it may be that many previous cases have been misdiagnosed as idiopathic when histological analysis has not been acquired. In patients with known atherosclerotic disease or risk factors, it should be considered. Ultrasound can aid in distinguishing between segmental infarction and tumour; however, histology is often required to confirm the diagnosis.


In contrast, the umbilical mass neoplastic cells expressed plasma cell markers CD138  without BCL6‐R. These findings are characteristic of plasmablastic lymphoma with MYC::IGH fusion and BCL2‐R. This likely represents transformation of the patient's prior DLBCL, with clonal evolution characterized by acquisition of MYC‐R. Transformation of follicular lymphoma to plasmablastic lymphoma with MYC‐R and BCL2‐R has been previously described, but to our knowledge this is the first reported case of transformation of DLBCL to plasmablastic lymphoma with MYC::IGH fusion and BCL2‐R. The “double‐hit” cytogenetic features may portend an aggressive clinical course, similar to what has been observed in “high‐grade B‐cell lymphomas with MYC‐R and BCL2‐R and/or BCL6‐R” .A 50‐year‐old male with history of nodal stage III diffuse large B‐cell lymphoma (DLBCL), refractory to R‐CHOP, presented with vomiting, abdominal pain, and an umbilical mass. Abdominal computed tomography (CT) scan showed bulky retroperitoneal adenopathy and possible bowel obstruction. Histologic examination of the umbilical mass needle biopsy demonstrated diffuse atypical cells with medium to large nuclei, prominent central nucleoli, and eccentrically placed amphophilic cytoplasm (Figure The authors declare they have no conflict of interest.The authors received no specific funding for this work.Mohammad Barouqa wrote the manuscript. Patricia Greipp reviewed the article and cytogenetic probes. Rebecca King reviewed the article and stains. Ellen D. McPhail supervised the manuscript and finalized it.


Minimally invasive surgery is increasingly used in the treatment of inguinal hernias, with two main techniques described: transabdominal preperitoneal (TAPP) and totally extraperitoneal (TEP). In both techniques, a prosthetic mesh is placed in a preperitoneal position. However, in TAPP, the peritoneum flap must be completely closed. The TAPP technique is associated with more intra-abdominal complications.This article describes a case of bowel occlusion due to migration and erosion of a mesh after a TAPP repair in a 57-year-old patient with a history of colonic diverticular disease. The patient complained of abdominal discomfort and constipation, having undergone a colonoscopy and CT scan that demonstrated the presence of a foreign body partially in the lumen of the sigmoid colon. The treatment was surgical, with bowel resection and partial removal of the mesh, complicated by a deep tissue collection. The patient maintained follow-up in a surgery consultation, with no evidence of hernia recurrence.This is a rare complication of the laparoscopic approach in the treatment of inguinal hernia, more frequent in the TAPP technique. It is intended to draw attention to the type of closure of the peritoneum. Abdominal wall hernias are very common, of which inguinal hernias account for around 75%. During their lifetime, men have a higher risk of developing inguinal hernias (27%) when compared with women (3%) .Since the 18th century, surgery has been the first option for the treatment of inguinal hernia, with studies showing that each year, more than 20 million hernias are repaired worldwide, with around 750,000 in the United States [Nowadays, there is a wide range of treatments available for the treatment of inguinal hernia, including open primary repair, open tension-free repairs with the use of mesh, laparoscopic repairs with mesh, and watchful waiting. Minimally invasive surgery has become increasingly used in the treatment of inguinal hernias, although the primary indication has been for bilateral and recurrent inguinal hernias. Nowadays, with the acquired expertise, it is already used for the treatment of primary and unilateral hernias. The minimally invasive approach has the potential benefits of shorter postoperative recovery and a decrease in chronic pain ,3.The two main techniques described are transabdominal preperitoneal (TAPP) and totally extraperitoneal (TEP). In both techniques, a prosthetic mesh is placed in a preperitoneal position, whereas in TAPP, the peritoneum incision for the placement of the mesh must be completely closed. Although the TAPP technique has a shorter learning curve than TEP, it is associated with more intra-abdominal complications, namely, organ damage, adhesions, or intestinal obstruction ,5.A 57-year-old male patient reported to our outpatient department three years after TAPP bilateral recurrent inguinal hernia repair with a hydrophilic three-dimensional polyester mesh, and closure of the peritoneum with non-absorbable tacks in another institution. Due to complaints of generalized abdominal discomfort and constipation, a colonoscopy was performed, which showed multiple diverticula of the sigmoid colon and a foreign body  completely occluding the lumen Figures , 2. An uIn our first observation, the patient had no fever, no signs of inflammation in the abdominal wall, regular bowel sounds, and diffuse abdominal pain without signs of peritoneal irritation or palpable masses.Routine laboratory investigations showed a slight elevation of C-reactive protein (CRP) and the abdominal X-ray showed multiple spiral tacks in the abdominal wall, with an absence of free air or signs of ileus Figure .In the abdominal computed tomography (CT) scan, a foreign body was evident, partially endoluminal in the sigmoid colon and anteriorly in the Retzius space, associated with an intraperitoneal collection with air Figures , 5.The patient underwent exploratory laparotomy, during which a redundant sigmoid colon adherent to the anterior abdominal wall was identified. After its release, a perforation on the colonic wall was found, through which a prosthetic mesh was penetrating from the preperitoneal space (Retzius space) Figures -8.A sigmoid colon resection with primary anastomosis and partial removal of the mesh from the abdominal wall was performed.The patient had an uneventful postoperative period and was discharged after eight days on routine oral analgesics. During the routine follow-up (15 days after surgery), he was readmitted due to a deep tissue infection in the Retzius space, treated with ultrasound-guided percutaneous drainage and a course of broad-spectrum antibiotic with piperacillin and tazobactam combination. The patient was discharged 10 days after readmission, maintaining follow-up consultation without hernia recurrence one year after surgery.Nowadays, there are still many questions surrounding hernia surgery, with not only the indications for surgery but also the best surgical approach that should be used to avoid recurrence or complications and to improve the quality of life. This quest led to the advancement of the use of laparoscopic techniques, which are associated with faster recovery, a better quality of life, and less postoperative pain and wound complications when compared with the traditional open approach techniques. However, the longer learning curve, higher costs, and the potential for more serious visceral and vascular complications are among the disadvantages that have been described ,7.When TAPP surgery is performed, there is a need to completely close the peritoneal gap created to access the preperitoneal space. To that end, several methods can be used, such as staples, sutures, tacks, or glue. According to Ross et al., sutured closure of the peritoneum should be the ideal method, allowing a better early postoperative quality of life .The most common way of closure of the peritoneal gap in TAPP repairs is with tacks, mainly because of the ease of the method, which leads to less operative time. However, the use of non-absorbable tacks has been associated with numerous complications, such as chronic pain, adhesions, and intestinal perforation. The use of absorbable tacks and fibrin glue is associated with similar results and fewer long-term complications ,9.During their seven-year study of 3017 patients who underwent TAPP, Kapiris et al. described seven cases (0.2%) of small bowel obstruction due to herniation of the small bowel through a defect in the peritoneal closure, with 0.8% occurring when the peritoneum was closed with staples and only 0.1% when the closure was done with suture .Bowel obstruction after TAPP repair is a rare complication. It is usually associated with a deficient closure of the peritoneum, inappropriate fixation of the mesh, adhesions, and hernia formation at the trocar site. An injury to the serosal layer of viscera can be caused either by the edges of the mesh or by the tack, which leads to an intra-abdominal inflammatory process and eventually mesh erosion. Therefore, the importance of adequate closure of the peritoneal flap is well established to prevent mesh contact with the abdominal viscera with fistula formation and mesh migration ,11,12. DThe true incidence rates of mesh erosion, migration, and perforation into adjacent organs remain unknown, with the majority of cases reporting the bladder as the affected organ and with clinical manifestations presenting from one to 20 years after the hernia repair ,12.The exact cause of the complication described in our case report remains unclear; however, one can argue that it was probably due to the failure to achieve the appropriate closure, allowing the contact of the mesh with the abdominal organs, leading to erosion and mesh migration, resulting in bowel obstruction. Maybe the diverticular disease the patient had and the use of non-absorbable tacks also played a role.Currently, laparoscopic TAPP has acquired worldwide popularity and acceptance, being deemed a safe and efficient procedure to treat inguinal hernias. However, it must be remembered that, although rare, some complications can cause significant morbidity. Some of the most dreadful complications described in the literature are the ones that occur due to the fixation techniques of the mesh  and the incomplete closure of the peritoneum.This case reports an avoidable, serious, and potentially fatal complication related to a deficient technique when performing TAPP, highlighting the need for meticulous closure of the peritoneal gap.


Ewing's sarcoma (ES) is the second most common osseous tumor in young patients after osteosarcoma. All primitive neuroectodermal tumors (PNET) and Askin tumors are members of Ewing's sarcoma family of tumors (ESFT), which all have aberrant translocations between the 11th and 22nd chromosomes. Only one in five cases of Ewing's sarcoma occurs as extraskeletal. In this report, we describe a young female with a palpable lump on her spine who presented with paravertebral and thoracic extraskeletal Ewing's sarcoma (EES). Over six months, the swelling gradually increased in size, and the patient reported episodes of episodic pain and fever. Examining the swelling, a non-reducible, non-tender ovoid lump measuring approximately 8 cm x 5 cm was found to have smooth margins and be slightly mobile. The use of magnetic resonance imaging (MRI) helped diagnose, plan surgical resections, assess neoadjuvant chemotherapy effectiveness, and detect local recurrences and metastatic spread of the tumor. The differential diagnosis of EES included embryonal rhabdomyosarcoma and lymphoma. The use of immunohistochemical markers further differentiated the diagnoses. In conclusion, it should be noted that EES, though rare, should be considered when evaluating soft tissue lumps of neoplastic characteristics, in children or adolescents. Considering the poor prognosis of this disease, early detection is essential. The MRI plays a vital role in diagnosing cancer, staging it locally, assessing response to neoadjuvant therapy, and identifying local recurrences and metastases. Ewing's sarcoma of bone (ESB), extraskeletal Ewing's sarcoma (EES), primitive neuroectodermal tumors (PNET), and Askin tumor are all members of the Ewing's sarcoma family of tumors (ESFT) . The mosA 16-year-old female with no significant family history presented with swelling in her back that developed gradually over six months. In addition to the swelling, the patient reported pain and episodes of fever as the swelling grew. There was no discharge associated with the swelling. When palpated, a non-reducible, non-tender, ovoid hard lump measuring approximately 8 cm x 5 cm with smooth margins was noted. During the examination, the lump was located in the left dorsal paraspinal region and was not warm to touch. A chest X-ray demonstrated a mild enlargement of the left paravertebral space in the lower thoracic region, which suggested soft tissue involvement, as shown in Figure A heterogeneously hypoechoic mass with anechoic areas in the left paravertebral region extending into the thoracic cavity posteriorly was detected by ultrasound Figure .Computed tomography (CT) scans were performed to further accurately evaluate the thorax, the vertebrae, the lung parenchyma, and the mediastinum and pleura. A large, well-defined heterogenous mass was noted from the 9th to the 12th dorsal vertebral spine, which was isodense to muscle. The CT scan confirmed no rib erosions nor any involvement of the lung parenchyma. It is apparent, however, that the left pleura was involved without significant pleural effusion as shown in Figure Contrast MRI revealed a well-defined, lobulated T1 hypointense Figure  and T2 hAs demonstrated in Figure It was found that there was mild anterior wedging of the vertebral body of the D5 vertebra along with a decrease in the height of the vertebrae Figure , which sBased on the imaging features described above and the patient's age, the patient was diagnosed with EES but also considered rhabdomyosarcoma as an alternative diagnosis. Additionally, the mass was subjected to core needle biopsy and immunohistochemistry, where clusters of atypical small blue round cells were observed  with scaThe tumor was found to be positive for cluster of differentiation (CD) 99, vimentin, and Friend leukemia integration 1 transcription factor (FLI1), and negative for leukocyte common antigen (LCA) and synaptophysin with a 7% Ki 67 positivity confirming the diagnosis of EES. As the Askin tumor ; however, recent trials advocate better results following National Comprehensive Cancer Network (NCCN) recommendations on ES management to formulate a tailored approach to individual cases of EES based on presentation . In accoThe incidence of EES is 0.4 per million . In compThe MRI is a preferred method for assessing soft tissue involvement and disease staging. An MRI can assist in determining the relationship between a lesion and adjacent neurovascular structures, which helps plan biopsy and surgical resection. An EES typically exhibits intermediate to hypointense T1 intensity, hyperintense T2 intensity, and intense gadolinium enhancement. A CT scan can reveal intra-tumoral calcification  positivity and diastase sensitivity are observed, but not in lymphomas. Ewing’s sarcoma family of tumors is characterized by the presence of CD99, a membrane glycoprotein marker that is highly sensitive but not specific. Other positive markers include neural markers S-100 and synaptophysin, and vimentin. Friend leukemia integration is a relatively specific marker targeting transcription factors in the characteristic translocation of ESFT. The CD99, vimentin, and FLI 1 tests were positive within this case along with radiological findings that confirmed EES. The translocations t  and t(21:22) (q22:q12) detected by molecular genetics ,9 add adThis case report presents a young female patient presenting with a painless paravertebral and posterior chest wall mass coupled with pleural involvement and vertebral metastases. Askin tumors are ESFTs with thoraco-pulmonary involvement. Infrequently, this malignant neuroepithelioma occurs between the ages of 10 and 30 years, with a median age of 14.5 years and female predominance . The preOwing to lacunae in research specific to EES, management was derived from the soft tissue sarcoma protocol set by the Society of Pediatric Oncology (SIOP). Recent trials, however, advocate better results following NCCN's recommendation for ES to formulate a tailored approach to individual cases . BroadlyThe patient was administered systemic chemotherapy VDC and IE alternatively at three-week intervals, with each VDC/IE cycle lasting six weeks. Following each dose of dense VDC (75%)/IE (75%), pegylated granulocyte colony-stimulating factor (peg GCSF) (filgrastim) was given the following day to counter possible neutropenia. A total of four such cycles were completed in the induction phase during which the patient developed grade 2 chemotherapy-induced nausea and vomiting which settled with olanzapine and non-neutropenic fever which was managed conservatively with antibiotics. After chemotherapy, 18F-fluorodeoxyglucose (18F-FDG)-positron emission tomography (PET) CT scan revealed complete resolution of soft tissue mass, a decrease in marrow activity in the D5 vertebral body max dropped from 4.89 to 3.47). Postoperatively, the biopsy showed evidence of tumor cells in the margin (R1 resection) likely due to micrometastasis. Thus, adjuvant targeted radiotherapy 45Gy in 25 fractions, 1.8Gy per fraction was delivered using a 3D conformal technique with 6mV photon between the D8 to D12 vertebra and satisfactory palliation was thus achieved. Currently, the patient is symptom-free and is scheduled for a monthly follow-up assessment. Furthermore, depending on the status, the patient is planned to undergo chemotherapy with the same multidrug regimen for a period of up to one year. Overall, in both ES and EES, metastatic disease carries a worse prognosis and poorer survival rates .When evaluating soft tissue neoplasms in children or adolescents, EES should be considered. Due to the poor prognosis of this condition, early detection is crucial. Diagnostic imaging, in particular MRI, is useful in detecting this disease as well as aiding in staging, and assessing response to therapy. It also assists in planning direct surgical resections, as well as recognizing local recurrences or metastases.


A patent urachus is a rare congenital anomaly that atypically presents as an umbilical cord cyst or large umbilical cord. Here we describe a case of a giant umbilical cord cyst in a newborn diagnosed as a patent urachus.A male infant with a birth weight of 3260 g was transferred because of an antenatally diagnosed giant umbilical cord cyst accompanied by yellowish discharge and granulation in the umbilical cord after birth.Patent urachusThe patent urachus was treated by excision of the urachal remnant followed by partial cystectomy.Postoperative orchitis with pyocele occurred and was treated with a course of antimicrobial therapy; and no other complications developed.Newborns with a giant umbilical cord or umbilical cord cysts should be examined for possible accompanying urachal anomalies, even if antenatal ultrasound shows no other suspicious findings, to prevent delayed diagnosis and subsequent complications. However, incomplete obliteration of the urachus leads to a spectrum of urachal anomalies, depending on the location and extent of incomplete obliteration. Newborns with urachal remnants usually present with symptoms of near-persistent umbilical leakage of urine, inflammation , irritability, a giant umbilical cord, and a palpable abdominal mass upon birth or soon after.,3Urachal remnants are rare developmental anomalies that occur because of defects in the developmental process during the fetal period. During normal development, the proximal part of the allantois extends into the urogenital sinus, and the remaining part of the allantois is surrounded by the umbilical cord, within which it projects outwards to form a fibrous connection between the apex of the bladder and the umbilicus called the urachus. These abnormalities can present as follows: A patent urachus is a urachal remnant with an intact hollow lumen connecting the bladder to the umbilicus; a urachal sinus has a hollow, open pocket at the umbilical end of the urachus with a partially closed-off fibrous cord-like structure connected to the bladder; a bladder diverticulum has a hollow urachus at the end connected to the bladder; and a urachal cyst is hollow in the middle with both ends closed.Urachal anomalies are usually diagnosed through antenatal ultrasound, but the appearance of the above-mentioned symptoms or abnormal physical findings suggesting urachal remnants should be evaluated to diagnose and clarify the type of urachal anomalies.Urachal remnants are occasionally accompanied by umbilical cord cysts and a large umbilical cord, resulting in under-diagnosis or misdiagnosis. Delayed diagnosis causes subsequent complications such as infection, abdominal pain, and malignant transformation. In this report, we describe the findings of a newborn who was referred for a giant umbilical cord cyst, diagnosed as a patent urachus with radiologic images, and surgically treated.2A male infant weighing 3260 g was born via vaginal delivery without any perinatal problems at a gestational age of 40 weeks. After the infant was born, the umbilical cord was found to be large, and fetal sonographic examination revealed an umbilical cord cyst which prompted a referral to Chungbuk National University hospital's pediatric outpatient clinic on the sixth day of life. Physical examination revealed a large umbilical cord but no other significant findings, such as discharge, and ultrasound examination was scheduled to rule out urachal anomalies. At the 1-week follow-up, the umbilical cord showed a yellowish discharge and granulation with a bright red umbilical polyp and pinpoint opening  was performed before discharge to examine the bladder volume, bladder drainage, and the presence of any structural abnormalities of the bladder. No leakage of the contrast material was seen upon filling the bladder nor were signs of reflux or leakage seen upon voiding. The patient was discharged on the 15th postoperative day and showed no further complications after the surgical removal of the patent urachus and antimicrobial therapy for orchitis and pyocele.On the second postoperative day, while the umbilical surgical site was clear, the right scrotum was enlarged, and on the next day, the scrotum showed redness as well as hardness and tenderness upon palpation, indicating inflammation. Scrotal ultrasound confirmed orchitis with pyocele of the right scrotum along with innumerous internal septae and a hypervascular right testicle Fig. . A bloodThe outpatient postoperative assessment, which was conducted on the 21st postoperative day, revealed no remarkable complications in the umbilical surgical site, in addition to the gross physical examination and ultrasound findings of the scrotum and spermatic cord. The patient also showed adequate growth after being discharged from the hospital.3A patent urachus was diagnosed in a male newborn with a large umbilical cord, and an umbilical cord cyst was diagnosed based on radiological images. The patient underwent planned surgical repair and was treated with antibiotics for concurrent orchitis and pyocele. The patient presented with no further complications and was healthy on discharge.,4 In this case, the patient was referred for a giant umbilical cord and a suspected umbilical cord cyst on prenatal ultrasound. However, postnatal ultrasonography and fistulogram obtained via the opening of the umbilicus revealed a patent urachus. After birth, abnormal physical findings, including persistent umbilical discharge or umbilical polyps, should raise suspicion for urachal remnants, which can be evaluated by imaging examinations such as postnatal ultrasound, VCUG, fistulography, or computed tomography to discriminate urachal remnants from benign lesions. Concurrent genitourinary malformations should be investigated with imaging studies such as intravenous pyelography and VCUG. We observed a negative result in VCUG in the present case.Umbilical remnants originate from partial or total failure of obliterations between the fetal bladder and the allantois. A patent urachus indicates complete communication between the bladder and the umbilicus. It is often suspected prenatally in cases showing ultrasound images of umbilical cord cysts with or without bladder problems such as megacystis and bladder eversion caused by reflux of urine into the umbilical cord resulting in an allantoic cyst during fetal life. Nevertheless, surgical excision is generally recommended for urachal remnants because of the possibility of recurrent infections and malignant transformation.,5,6 Conservative treatments such as antibiotics and urethral catheterization are associated with a risk of potential failure and require repeated imaging studies to identify the spontaneous resolution of urachal remnants. On the other hand, surgical repair is preferred in patients with symptomatic urachal remnants. A patent urachus is usually symptomatic; in this case, our patient showed yellowish umbilical discharge and underwent a planned operation for urachal remnant resection.There is insufficient consensus regarding the choice between conservative therapy and surgical resection in the management of urachal remnants because of their rare occurrence. Cuda et al. reported successful spontaneous closure of a patent urachus by conservative management with urethral catheterization.,7 In our case, the infant showed a unilateral erythematous, swollen scrotum with tenderness, indicating inflammation or infection, on the day after the surgical repair, and was diagnosed with orchitis and pyocele based on scrotal ultrasound findings. The postoperative wound was clear.Postoperative complications are uncommon in patients with urachal remnant. Previous studies reported that the incidence of wound infections, bladder leakage, and reoperation was 15%.,9 In the present case, the pyocele was considered an adverse outcome of fistulography or a preoperative intra-abdominal infection from patent urachus or postoperative inflammation. Pyocele is a rare urological emergency condition that requires early diagnosis and intervention to prevent the development of sepsis and testicular loss. We performed an immediate ultrasound to diagnose pyocele and consulted a urologist for management. Although broad-spectrum antibiotic treatment with surgical drainage is known to be effective for the treatment of pyocele, in this case, pyocele was resolved by prompt administration of antibiotics without surgical exploration. We did not determine the cause of pyocele and the organism of the infection without drainage of the fluid collection. However, the patient was successfully treated with antibiotics without testicular loss and showed no further complications.The cause of pyocele is either idiopathic or infectious, with the condition manifesting as an intraperitoneal infection spreading through a patent processus vaginalis testis or as a primary infection of the testis, epididymis, or testicular appendage.4A patent urachus is a rare urachal remnant. Careful evaluation should be performed in neonates with umbilical cord cysts or large umbilical cords to distinguish between coexisting urachal anomalies. Herein, we report a case involving successful treatment of a newborn with patent urachus concurrent with pyocele and orchitis, which may have been a possible complication of patent urachus.SJK and EI performed the study, participated in the data collection, and drafted the manuscript. YJK, JHL, and JWP designed the study. SAY substantially revised the manuscript. All the authors have read and approved the final version of the manuscript.Conceptualization: Jin-Woo Park, Shin Ae Yoon, Yoo-Jin Kim.Data curation: Erika Imura, Ji Hyuk Lee, Shin Ae Yoon, Susie Kang.Investigation: Yoo-Jin Kim.Supervision: Ji Hyuk Lee, Jin-Woo Park, Shin Ae Yoon.Writing – original draft: Erika Imura, Susie Kang.Writing – review & editing: Shin Ae Yoon.


T1WI and hypointense signal on T2WI. The boundary between the lesion and skeletal muscle is unclear.Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition caused by a mutation in capillary morphogenesis gene 2 (CMG2) on chromosome 4q21. JHF is an extremely rare genetic disorder, and fewer than a hundred cases have been reported worldwide. In this case report, the clinical features, histopathological features and imaging manifestations of a case of JHF are presented. We present imaging manifestations of one case of JHF to deepen the radiologist’s understanding of this condition. The histopathological feature of JHF is hyaline degeneration involving skeletal muscle. Therefore, the lesion has a slightly high density on CT imaging, iso- or hypointense signal on An 8-year-old male (Case 1) was examined in our department with a complaint of multiple masses on the head, neck and back in 2021. The boy was the only child of his parents and was delivered at 40 weeks gestation by caesarean section. His parents were non-consanguineous.JHF displays multiple slowly or rapidly growing subcutaneous nodules. The imaging manifestations can reflect histopathological components, including nodular connective tissue and amorphous, partially calcified hyaline material. The literature on JHF and infantile systemic hyalinosis is also reviewed.From the first report of JHF in 1873 to relevant literature reports in 2020, all of the studies focused on histopathology, gene detection, immunohistochemical analysis, clinical treatment and follow up of JHF, whereas imaging manifestations of JHF were rarely reported.An 8-year-old boy with multiple masses on the head, neck and back since birth was brought to the ENT Department of Shandong Second Provincial General Hospital.The boy was the only child for his parents and was delivered at 40 weeks gestation by caesarean section. His parents were non-consanguineous. His birth weight was 3.5 kg, and he was 50 cm long. Multiple nodules were present on his head at birth. His parents found multiple nodules on his head, neck and back when he was 2 or 3 months old. All the nodules became larger but grew very slowly. In addition, the nodules have remained painless to date. The boy is very clever, and he gets top marks on his exams. Unfortunately, pre-operative photos of the patient were not available due to various reasons, and only one photo of the patient at the age of 1 was available .The boy was referred for head, neck and chest CT and MRI examination, which revealed multiple masses on the head, neck and back, and the bone adjacent to the lesion was hyperplastic. The scan ranged from the crown of the head to the upper abdomen and included all lesions.T1WI and hypointense signals on T2WI. The masses showed hypointense signal on DWI and the ADC map. The mass gradually strengthened with the prolongation of time after the contrast agent was administered. All masses showed mild hyperdensity with hyperosteosclerosis of adjacent bone on CT  and JHF. IHF with involvement of the viscera is the most lethal form.2,12–16 Patients with juvenile hyaluronidosis can survive into adulthood, whereas patients with IHF suffer from intractable diarrhoea and recurrent infections leading to early death.16 Fortunately, our patient’s viscera were not affected by the lesion.JHF is a rare hereditary disorder first reported as “mollusum fibrosum” in 1873 by Murray.4,5,16,17 Skin lesions are present at birth or develop in early childhood. The diagnosis is confirmed by demonstration of hyaline deposition in the lesion.7,8 In our case, high-power histopathological imaging revealed hyaline deposition in the lesion, and the lesion invaded the surrounding skeletal muscle with an ill-defined boundary. Therefore, lesions were indistinguishable from adjacent muscles on CT and MRI imaging. Gene detection reveals a mutation in capillary morphogenesis gene 2 (CMG2) on chromosome 4q21. CMG2 encodes a protein involved in basement membrane matrix assembly, in particular collagen type VI homeostasis, and endothelial cell morphogenesis.1,2,16,18 Our patient had multiple masses on the head, neck and back, which was a common finding in this condition. The masses were accompanied by hyperosteosclerosis adjacent to the skull or rib. The masses showed iso- or hypointense signals on T1WI and hypointense signals on T2WI. The mass gradually strengthened with time after the contrast agent was administered. All lesions showed slightly high density on CT. We assume that these imaging manifestations are closely related to histopathological findings, namely, nodular connective tissue and amorphous, partially calcified hyaline material.16,19The clinical features of JHF include gingival hyperplasia, osteopaenia, osteolytic bone lesions, papular and nodular skin lesions, and joint contractures.20 However, no gingival hyperplasia was noted in our case.Generally, gingival hyperplasia is observed in JHF, and cases without gingival hyperplasia have only rarely been reported.16,20 Our patient presented with a painless swelling mass.JHF displays multiple slowly or rapidly growing subcutaneous nodules.6,16 Gingivectomy is useful for gingival hyperplasia. Frequent periodontal visits are important for maintaining oral hygiene and decreasing the growth rate of gingiva in JHF.19The treatment of JHF is generally considered to be unsatisfactory. Recurrence may occur after excision of the mass.First, JHF is characterised clinically by multiple papules, nodules or masses in the head and back; hypertrophy of the gingiva; and flexural contractures of the large joints at birth or in the first 4 years of life.Second, the lesion involves skeletal muscle with an ill-defined boundary. The lesion may or may not involve viscera and gingiva.Finally, hyaline deposition in the lesion results in its characteristic radiographic appearance.


Roux-en-Y gastric bypass (RYGB) is one of the most common bariatric surgeries performed and has aided many people with their weight loss efforts. However, manipulating the gastrointestinal anatomy may have numerous consequences. Various complications of RYGB can occur during the early to late post-op periods, and abdominal pain is the most common symptom reported. The etiologies that present as abdominal pain are heterogeneous in anatomical origin, onset, severity, and management; therefore, differentiating diagnoses is crucial. The physical exam, inciting triggers, and alleviating factors can direct diagnostic measures accordingly. Prompt recognition and identification of these patients' underlying causes of abdominal pain are vital for accurate diagnosis and treatment. Methods can range from conservative management to surgical intervention, depending on the severity of the complication. In this report, we recount the cases of two patients who underwent elective RYGB and presented to the emergency department (ED) months later with abdominal pain. After the labs were taken and diagnostic tests were conducted, it was discovered that both patients had multiple underlying factors that could have contributed to their pain. This study aims to describe the diverse etiologies of abdominal pain encountered in these bariatric patients and explore the appropriate management strategies utilized for each case. Obesity is a global epidemic with a 14% prevalence that is expected to rise to 20% by 2025 . Despite its safety, RYGB is associated with many postoperative complications; therefore, it is essential to exhibit high clinical suspicion for swift diagnosis and effective management . ApproxiIn this report, we describe the cases of two patients who presented with abdominal pain months after elective RYGB surgery. After further testing with labs and diagnostic imaging, both cases were found to have multiple post-gastric bypass complications, with each one being a possible underlying etiology of their abdominal pain.Case oneWe present the case of a 40-year-old female patient with a body mass index (BMI) above 40 kg/m2. She underwent an elective laparoscopic Roux-en-Y gastric bypass, and following a normal postoperative period, she was subsequently discharged. Six weeks later, the patient presented to the emergency department (ED) with abdominal pain, obstipation, nausea, and vomiting. On physical exam, the abdomen was mildly distended and tender to palpation in the upper quadrants. An abdominal X-ray was conducted, and the results showed dilated small and large bowel loops with mild fecal burden, indicating early bowel obstruction. Figure The patient underwent an emergent diagnostic laparoscopy with adhesiolysis and small bowel release. During the surgery, multiple small bowel loops were dilated with a single adhesion visualized tethered to the gastrojejunostomy (GJ). The adhesion was lysed, and the obstruction appeared to be completely resolved. The Roux limb was followed from the stomach to the jejunojejunal (JJ) anastomosis and up to the Treitz ligament, then down to the ileocecal valve, to ensure no other adhesions or obstructions were present. The surgery was successful; after two days postoperatively, the patient had a bowel movement.Although her bowel function resumed, the patient still complained of continuous abdominal pain that was worse in the left upper quadrant (LUQ), along with persistent nausea and vomiting. Upon further questioning, it was found that the pain worsened after liquid intake; this was an indication for an esophagogastroduodenoscopy (EGD) for a suspected marginal ulcer. Located by the gastrojejunal anastomosis was a marginal ulcer, confirming the diagnosis. Figure There was no perforation of the ulcer, so the patient began conservative management with a regimen of proton pump inhibitors (PPI) and acetaminophen for analgesia. Two days later, the patient endorsed complete relief of her symptoms and was instructed to follow up as needed.Case twoIn this case, a 63-year-old female patient with a BMI of 47 kg/m2 underwent a Roux-en-Y gastric bypass. After an uncomplicated procedure with a normal postoperative period, the patient was discharged. Nine months later, after losing 36 kg, she presented to the ED with complaints of worsening upper abdominal pain and constipation that was refractory to medication and laxative use. She stated that her pain was 10/10, constant, and more severe with movement, and she denied vomiting or having bloody stools. On physical examination, there was diffuse tenderness that worsened on palpation. A computed tomography (CT) of the abdomen and pelvis with intravenous contrast was conducted and showed an eccentric area of hypoattenuation within the small bowel, representing a segment of intussusception that extended approximately 6 cm. Figure The patient underwent an emergent diagnostic laparoscopy, and the intussusception was found just beyond the JJ anastomosis. It was easily reducible without an event and appeared to be intermittently telescoping into itself, as there was no lead point found. After the surgery, the patient had a bowel movement but still complained of pain with focal tenderness to palpation in the epigastric region. An EGD was conducted due to the suspicion of marginal ulcer formation and a significant finding of multiple ulcers in the jejunal mucosa distal to the GJ anastomosis. Figure A regimen of PPI, antiemetics, and analgesics was initiated following the discovery. The patient endorsed the relief of her symptoms and was subsequently discharged with a plan to follow up.Roux-En-Y Gastric Bypass is characterized by the creation of a gastric pouch, biliopancreatic limb, roux limb, and two anastomoses, namely, the GJ and JJ anastomoses . This alMarginal ulcerThis condition is characterized by the appearance of one or more peptic ulcers on the jejunal mucosa at the gastrojejunal anastomosis . Some noSmall bowel obstructionSmall bowel obstructions (SBO) are mainly caused by internal hernias, postoperative adhesions, or strictures . PlacemeIntussusceptionIntussusception most commonly occurs at the JJ anastomosis, where the distal common limb telescopes into the proximal jejunal limb . Some stIn our case, both patients who exhibited immense weight loss presented with SBO, intussusception, and marginal ulcers. Diagnostic testing with CT, abdominal X-ray, and EGD was utilized to come to a timely diagnosis in both patients and allow early intervention. A close follow-up with these patients is necessary to prevent recurrence and the development of complicated cases.RYGB can present with several complications, and timely management is important in the treatment of patients. In the cases presented, both patients had similar presentations with the common complaint of abdominal pain, but diagnostic imaging revealed different etiologies. One patient had SBO, the other had intussusception, and both were found to have marginal ulcers. Each of these complications has different risk factors, clinical durations, and management strategies, but they all share one common chief complaint: abdominal pain. Therefore, it is imperative that physicians have an understanding of the etiologies and next best steps required when presented with a bariatric patient complaining of abdominal pain post-RYGB.


Malakoplakia is a rare inflammatory disease of indeterminate etiology, which may involve many organs, and that has no specific symptoms.Malakoplakia generally occurs in the genitourinary tract; the bladder is the most commonly involved site.H.L.R, aged 60 years, male, sought the Otorhinolaryngology unit complaining of swallowing difficulties because of a lesion in the mouth for the past two years. The physical examination showed that the patient was of normal complexion, hydrated, acyanotic and anicteric. The patient was not using immunosuppressant medication. Videolaryngoscopy revealed a soft brown-yellowish lesion to the right of the base of tongue; it measured about 4 cm. Direct laryngoscopy under general anesthesia was done to remove the lesion for pathology.Pathology revealed chronic inflammation with frequent histiocytes containing cytoplasmic vacuoles and concentric structures suggesting malakoplakia . SpecialThe periodic acid Schiff (PAS) stain showed round basophilic intra-cytoplasmic structures (Michaelis-Gutmann corpuscles) in some histiocytes . Histiocytes were CD68 positive according to the avidinbiotin peroxidase (ABC) immunohistochemical technique.These findings suggested the diagnosis of malakoplakia; there was no evidence of malignancy in the material.Following surgery, the patient progressed favorably, with no intercurrences. Sulfametoxazol-trimetoprim was prescribed as treatment for the lesion. Follow-up in the outpatient unit showed that the patient was well, with no signs of recurrence.Malakoplakia is a rare inflammatory reaction.The diagnosis is made in histopathological exams, which show chronic inflammation consisting of large histiocytes containing positive periodic acid Schiff granules (PAS) also known as Von Hansemann cells, and rounded concentric structures named Michaelis-Gutmann corpuscles.The pathogenesis is poorly defined. It is possible that intracellular changes in cyclic guanosine monophosphate (cGMP) and cyclic adenosine monophosphate (cAMP) may harm macrophage lysosomes, hindering bacterial degradation and thus making it possible for substances to accumulate in phagolysosomes. The result is increased macrophage cytoplasmic volume with Michaelis-Gutmann corpuscles.Because there are no specific symptoms, malakoplakia should be differentiated from: granular cell tumors, xantogranulomatous inflammation, histiocytosis with massive lymphadenopathy, Langherans cell histiocytosis, undifferentiated carcinoma, atypical bacterial infection, and malignant lymphoma.Recommended medication for treating malakoplakia include sulfametoxazoltrimetoprim, rifamycin, and the quinolones, because these drugs are able to enter phagocytes and eliminate intracellular bacteria.Malakoplakia is a rare inflammatory disease with no specific symptoms; thus, the differential diagnosis is varied. This condition presented in an unusual site in this case (base of tongue); the diagnosis was made using histopathology and confirmed by histochemical and immunohistochemical methods.


A 2-year-old boy is brought by his mother because of a “white shadow” in his eye. The mother says that she first noticed it 4 weeks ago. There is no history of significant eye problems in either parent or in the two other siblings. The eyelids and orbits appear normal. The right eye is normal. The left eye has a white yellow reflex in the pupil. There is no obvious squint.Question 1 Which of the following should be considered in the diagnosis?a. Infantile cataract□ b. Persistent primary hyperplastic vitreous□ c. Retinopathy of prematurity□ d. Coat's disease□ e. Retinoblastoma□ Question 2 Which of the following examinations/investigations are essential in determining the diagnosis?a. Electro-retinography□ b. Examination of both eyes under anaesthetic (EUA)□ c. Ultrasonography□ d. X-ray of the orbit□ e. Fluorescein angiography□ Question 3 If the diagnosis is retinoblastoma, which of the following may be appropriate?a. Removal of the eye□ b. Radiotherapy□ c. Chemotherapy□ d. Counselling the parents about future children□ e. Conservative management and review in 3 months□ All may be correct. The child has leucocoria (white pupil). This is a serious condition requiring urgent diagnosis and management. It may be due to any of the causes listed, as well as others; Coat's disease is a unilateral retinal exudative disease.The correct answers are (b) and (c). An EUA (dilated examination of both eyes) will allow careful examination of the posterior segments, and at the same time an ultrasound can be performed which may show the origin of the lesion.Answer (e) is FALSE, the rest are true. Retinoblastoma is a life threatening condition that requires urgent treatment. Treatment may consist of surgery and /or radiotherapy and / or chemotherapy. Retinoblastoma may be hereditary although there is no history in this case. The parents do need to be counselled by someone with appropriate expertise.


Benign metastasizing leiomyoma (BML) is a rare pathological process associated with pelvic leiomyoma. We present two cases of BML that are associated with giant pulmonary metastasis. BML is a rare benign metastatic phenomenon that could easily be mistaken for malignant neoplasms. Both cases occurred in middle-aged women who presented with cough and dyspnea. They previously underwent hysterectomy for uterine leiomyoma. After history taking, computed tomography, integrated PET/computed tomography and pathological assessment, a multidisciplinary treatment was offered for the diagnosis of BML. Physicians should consider BML among the differential diagnoses in women of reproductive age with a history of uterine leiomyoma presenting with pulmonary nodules, and accurate histopathological analysis should be made. This article reports two cases of a rare pathological process called benign metastasizing leiomyoma. Since it can be mistaken with malignant neoplasm, the report provides evidence and guidance for clinicians and histopathologists to be considered when dealing with similar cases. Benign metastasizing leiomyoma (BML) is a rare benign metastatic phenomenon that is related to pelvic leiomyoma. Histologically, the primary and metastatic lesions are characterized by benign appearing smooth muscles with histological, immunological and molecular patterns that mimic those related to benign uterine leiomyomas . Upon hiSteiner first described BML in 1939 ,6.Pulmonary BML usually presents with respiratory symptoms, most commonly shortness of breath, cough and more rarely hemoptysis, hemothorax or pneumothorax . All BMLHerein, we describe two cases of BML that present with giant pulmonary lesions 5 and 17 years after hysterectomy for uterine fibroids.A 51-year-old women presented with cough for 1 year and shortness of breath for 4 months. The patient is para 3; all were normal vaginal deliveries at full term. She had a history of uterine fibroids and myomectomy 17 years ago. CT showed multiple enlarged bilateral pulmonary nodules, the largest measuring 11.7 × 11.2 × 11 cm A–C. AbdoBrain CT was free. PET showed numerous large hypermetabolic masses, and the largest one was located in the left upper lobe, measuring 10.2 × 6.8 cm, with no evidence of abnormal focal uptake in the neck, chest or abdomen. CT-guided biopsy showed benign spindle-cell proliferation forming fascicles that intersect at right angles, which confirmed pulmonary BML. The tumor cells showed cigar-shaped nuclei with no evidence of tumor necrosis, mitosis or nuclear pleomorphism. The tumor cells were positive for smooth muscle actin, desmin, ER, PR and BCL2 immunohistochemical markers and negative for CD99, CD34, CD31, S-100 protein and beta-catenin immunohistochemical markers A–D.The pulmonary function test showed severe restrictive lung disease with a forced vital capacity (L) of 48% and forced expiratory volume in the first second (L) of 46%. The patient was started on hormonal therapy, including letrozole, an aromatase inhibitor, goserlin and gonadotropin releasing hormone agonist and planned for total abdominal hysterectomy with bilateral salpingo-oophorectomy.In 2013, a 47-year-old women presented to the emergency department at King Abdullah University Hospital with a cough and shortness of breath. She had a history of diffuse uterine leiomyomatosis, for which she underwent a hysterectomy in 2008. Chest CT showed bilateral multiple variably sized pulmonary masses and nodules. The results of a CT-guided biopsy appeared inadequate. Therefore, video-assisted thoracoscopic lung-wedge resection was performed, which confirmed pulmonary BML by showing a well-demarcated grayish nodule measuring 1.5 × 1.5 × 1 cm, composed of epithelioid cells arranged as nests and separated by steaks of hyalinized stroma. The cells showed no atypia, and the nuclei were vesicular with small nucleoli. Mitotic figures were up to 4/10 high power field with no apparent necrosis. The tumor cells were strongly positive for SMA, desmin and ER. The specimen appeared hostile for HMB-45, CD10, CK, S-100 protein, synaptophysin, chromogranin, CD34 and thyroid transcription factor 1, with Ki-67 showing 3% proliferative activity.In 2014, she underwent bilateral salpingo-oophorectomy and pelvic lymph node biopsy. The pelvic lymph node biopsy showed similar histopathological features to the previously mentioned pulmonary nodule leading to the diagnosis of BML. Later, in 2015, the patient presented with sudden shortness of breath and chest pain. CT showed pulmonary embolism in the posterior right pulmonary vein with multiple bilateral pulmonary nodules that increased in size. Unfortunately, in the same year, the patient died of massive pulmonary embolism.Pulmonary BML is thought to affect women at a mean age of 47.3 ± 10.02 years with a previous history of uterine leiomyoma and primary surgery at a mean age of 38.5 ± 8.99 years. The mean age at primary surgery correlated with the mean age of diagnosis [The exact pathogenesis of BML has not been completely identified yet. Various theories have been proposed to understand its pathogenesis better; peritoneal seeding after myomectomy or hysterectomy, benign smooth muscle cells metastasizing from uterine leiomyoma and low-grade uterine leiomyosarcoma. The peritoneal seeding hypothesis was reported based on that most of the patients previously underwent hysterectomy or myomectomy, suggesting a surgically related hematogenous spread and that BML and intravascular leiomyomatosis are related entities ,9,10. DeA multifocal origin has also been linked to BML in multiple reports. However, extrauterine leiomyomas are usually ER negative, whereas most BML is ER positive and heavily relies on ER and PR, with the disease occurring in premenopausal women and the tumor demonstrating growth reduction post menopause or during pregnancy . Therefoet al. reported that the mean interval between hysterectomy and the development of BML was 14.9 years, whereas in 2017, Barnaś et al. reported it as 8.8 years regardless of the surgery type. Of the two patients, one was diagnosed 5 years after hysterectomy, whereas the second was diagnosed 17 years after myomectomy.In 2020, Kayser The treatment for pulmonary BML has not been standardized yet. Among those is surgery by excising the foci and observing the development of new foci . Other oBML is a rare borderline tumor combining benign histological features with a metastasizing biological behavior indicating malignancy. It should be in the differential diagnoses of women of reproductive age with a history of uterine disease presenting with pulmonary nodules; thus, an accurate histopathological analysis should be performed. To the best of our knowledge, fewer than ten cases were reported in the Middle East, with no previous cases reported in Jordan.Benign metastasizing leiomyoma (BML) is a rarely reported phenomenon that primarily affects women with a previous history of uterine leiomyoma.Various theories are proposed to understand the pathogenesis of BML including peritoneal seeding after myomectomy, benign smooth muscle that metastasize from uterine leiomyoma and low-grade uterine leiomyosarcoma.Hormonal therapy can be an effective modality in preventing tumor progression.BML should be among the differential diagnoses in women of reproductive age with a history of uterine disease when presenting with pulmonary nodules.


Diverticulitis is a common disease of the colon with a broad spectrum of presentations. This case outlines a less commonly seen presentation of delayed complicated diverticulitis with abscess formation and associated small bowel obstruction.This report outlines the case of a 58-year-old obese male who initially presented to the emergency department with uncomplicated diverticulitis, was discharged home, and returned two days later with worsening symptoms. A repeat computed tomography (CT) scan demonstrated abscess formation with an associated small bowel obstruction. He underwent midline exploratory laparotomy with adhesiolysis of the portion of obstructed small bowel and resection of the diseased segment with primary anastomosis and diverting loop ileostomy. He had an ileostomy reversal at a later date.Small bowel obstruction is a less observed complication of diverticulitis. This report serves to educate on the presentation of these patients as well as to discuss the potential surgical management of these patients. If this patient had presented without the small bowel obstruction, he may have just needed percutaneous drainage. Acute colonic diverticulitis is inflammation of the colonic diverticula, most commonly caused by occlusion of the colonic diverticula leading to bacterial overgrowth and inflammation. The typical presentation is acute onset of lower abdominal pain, classically in the left lower quadrant, with systemic signs and symptoms, including nausea, vomiting, fever, and chills. Risk factors include obesity, a sedentary lifestyle, and the use of non-steroidal anti-inflammatory medications . It is aThe disease can be further classified into uncomplicated or complicated, determined largely based on a computed tomography (CT) scan of the abdomen and pelvis. The uncomplicated disease is characterized by colonic wall thickening and peri-colonic inflammatory changes. Complicated diverticulitis includes colonic perforation, colonic stricture, colonic obstruction, and the formation of abscesses and fistulas . A majorApproximately 12% of cases of uncomplicated diverticulitis will progress to complicated diverticulitis. The most common presentation of complicated diverticulitis is the formation of an abscess or phlegmon [This patient is a 58-year-old obese male with a history of type II diabetes mellitus and prior uncomplicated diverticulitis two years ago, who initially presented to the emergency department with one week of constant left lower quadrant abdominal pain. Laboratory work and CT of the abdomen and pelvis were obtained at that time. Labs were remarkable for leukocytosis and a CT scan of the abdomen and pelvis without contrast was obtained, demonstrating uncomplicated diverticulitis as shown in Figure He returned to the emergency department two days later with worsening left lower quadrant pain. Repeat blood work and a second CT of the abdomen and pelvis with intravenous (IV) contrast were obtained as shown in Figure Informed written consent was obtained from the patient, and he was taken to the operating room for exploratory laparotomy. Intraoperatively, the inflammatory mass was found in the sigmoid colon with a portion of the small bowel attached. The small bowel adhesions were carefully dissected from the mass, and the inflamed portion of the sigmoid colon was resected. A side-to-side anastomosis was created, utilizing a gastrointestinal anastomosis stapler and reinforced with silk sutures. On inspection of the anastomosis, there appeared to be some narrowing in the proximal colon and a diverting loop ileostomy to protect the anastomosis. The fascia was reapproximated and the skin was closed loosely with staples.On postoperative day one, he was tolerating his diet and ambulation. The ileostomy was productive of flatus and feculent material. He remained on ertapenem and his white blood cell count was monitored for improvement until his discharge on postoperative day seven. He returned to the outpatient clinic two weeks after his discharge from the hospital and was progressing appropriately. A barium enema was ordered to evaluate the anastomosis prior to scheduling ileostomy reversal. The barium enema had no evidence of anastomotic leak or stricture. Ileostomy reversal was performed six weeks after the initial operation. He was monitored in the hospital for three days after the ileostomy reversal and discharged home after the return of normal bowel function. He will have regular follow-ups in the general surgery clinic and be monitored for any potential complications.This presentation of colonic diverticulitis with associated small bowel obstruction is an uncommon presentation of this common disease, and CT evaluation of these complications is previously described by Kim et al. . ColonicThere is a sparse discussion of the frequency or treatment of this complication in recent literature. However, four similar cases are described by Welch and Warsaw in 1977 . In thesThis case demonstrates another example of this presentation while also describing the surgical management and postoperative course. The patient had risk factors for developing diverticulitis, including obesity and a sedentary lifestyle . He did The purpose of this report is to substantiate the spectrum of severity of diverticulitis and the possible complication of associated small bowel obstruction secondary to abscess formation. This is an uncommon presentation that should be considered in patients with signs of small bowel obstruction with diverticular abscess formation. This case describes a potential strategy for the surgical management of these patients. Future studies could be done to evaluate the frequency and management of this complication in clinical practice.


AARS2) by next generation sequencing. His asymptomatic brother also has MRI changes with subtle mild pyramidal signs. AARS2 mutation is a rare cause of mitochondrial encephalopathy which may give rise to leukodystrophy with premature ovarian failure, infantile cardiomyopathy, lung hypoplasia and myopathy. Gait apraxia as primary presenting feature of this rare variant of mitochondrial encephalomyopathy is hitherto un-reported.A 55-year-old male presented with apraxia of gait with exaggerated upper limb movement with relative preservation of cognition and mild spasticity of limbs. His investigations reveal posterior-predominant leukodystrophy in brain magnetic resonance imaging (MRI) and compound heterozygous mutations in mitochondrial alanyl-transfer RNA synthetase 2 ( AARS2) cause a form of mitochondrial encephalomyopathy which may give rise to leukodystrophy with premature ovarian failure, infantile cardiomyopathy, lung hypoplasia and myopathy [Biallelic variants in mitochondrial alanyl-transfer RNA synthetase 2 :c.1874G > A (p.Arg625His) and NM_020745.4 (AARS2):c.179C > A (p.Pro60His) which were classified as being “likely pathogenic”. Parental study could not be performed in this patient and thus there was no data regarding trans or cis position of the mutated alleles in the compound heterozygous state. In-silico prediction found both the variants to be damaging. No other variants in any gene causing leukodystrophy were found. He was put on coenzyme complex therapy and other supportive treatment, and is now under follow-up. His brother denied permission for genetic testing.He scored 82 in Addenbrooke’s Cognitive Examination and 15 in Frontal Assessment Battery. He showed mild attentional deficit and poor delayed recall in word list memory task, that improved with cues with preserved other cognitive domains. His examination revealed slurred speech, mild spasticity of four limbs, normal limb power with brisk deep tendon reflexes (DTRs). He could perform complicated coordinated motor activities by lower limbs while lying down like drawing numbers in the air or cycling in midair . HoweverSuperfluous compensatory upper limb movements have been described for gait apraxia . In the AARS2):c.179C > A (p.Pro60His) AARS2 variant has been previously reported in a patient with leukodystrophy with weakness and numbness of right lower limb with aphasia, cognitive decline and dysarthria [AARS2 mutations lead to patchy leukodystrophy mainly in frontal and parietal periventricular white matter with combination of cognitive impairment with frontal lobar dysfunction, spasticity and ataxia  and femasarthria . InabiliTo conclude, gait apraxia as primary presenting feature of this rare variant of mitochondrial encephalomyopathy, makes our case noteworthy.