Malignant focal liver lesions (FLLs) are commonly reported in adults but rarely seen in the pediatric population. Due to the rarity, the understanding of these diseases is still very limited. In children, most malignant FLLs are congenital. It is very important to choose appropriate imaging examination concerning various factors. This paper will outline common pediatric malignant FLLs, including hepatoblastoma, hepatocellular carcinoma, and cholangiocarcinoma and discuss them against the background of the latest knowledge on comparable/similar tumors in adults. Medical imaging features are of vital importance for the non-invasive diagnosis and follow-up of treatment of FLLs in pediatric patients. The use of CEUS in pediatric patients for characterizing those FLLs that remain indeterminate on conventional B mode ultrasounds may be an effective option in the future and has great potential to be integrated into imaging algorithms without the risk of exposure to ionizing radiation. Hepatic pathologic masses in pediatric patients include primary neoplasms and metastatic lesions from distant malignancies, inflammatory masses, and cysts . ApproxiAmong all primary malignant hepatic tumors in pediatric patients, hepatocellular carcinoma (HCC), typically affects older children and adolescents . In addiOverall, challenges exist in the detection and characterization of focal liver lesions (FLLs) non-invasively among the pediatric population and, depending on various factors, to the selection of appropriate imaging modalities. First, modern imaging technologies with higher resolution are required in the pediatric population due to smaller anatomic structures. Second, sedation or anesthesia might be required for some children who are unable to cooperate or control their breathing during an imaging examination due to their age and/or overall condition. Third, since children are more sensitive to radiation exposure, the use of imaging methods with potential radiation exposure should be minimized .The aim of the current review is to discuss pediatric malignant FLLs with an emphasis on imaging characteristics and the benefits of each imaging modality on the background of current knowledge and treatment strategies of FLLs.Advances in imaging techniques have significantly improved pediatric liver tumor diagnostic efficiency. Ultrasound, CT, and MRI are commonly used in clinical practice.A conventional ultrasound scan is a convenient, real-time, non-invasive, and radiation-free modality and, therefore, it is particularly utilized for the diagnosis, screening, and clinical follow-up of FLLs in pediatric patients . It can Nevertheless, inherent limitations and the frequently inconclusive nature of conventional ultrasound may require extra cross-sectional imaging such as CT or MRI to better characterize FLLs and improve diagnostic accuracy, with the requirement of the administration of contrast inevitably in CT and more frequently in MRI . Both imFocal liver lesions are one of the FDA (U.S. Food and Drug Administration) approved applications of CEUS with the utilization of the UCA Lumason in children, along with echocardiography and intravesical application . CEUS inAdvancements in technology and the availability of multi-detector computed tomography (MDCT) have proven to be essential diagnostic imaging modalities, with an increasing range of examinations now performed on the pediatric population . The abiDue to its superior soft tissue contrast resolution, MRI is preferable for the evaluation of FLLs with excellent multi-planar spatial resolution and functional assessment while avoiding the exposure to the ionizing radiation inherent to CT and nuclear medicine imaging techniques ,33. PediThe PRE-Treatment EXTent of tumor (PRETEXT) system is a radiologic staging system for the evaluation of primary hepatic malignancies in pediatric patients and is usually used in the risk stratification for hepatoblastoma, pediatric HCC across the world, and consists of the PRETEXT group and the annotation factors . The PREAmong all primary liver tumors in pediatric patients, hepatoblastoma is the most common one accounting for almost two-thirds of all pediatric malignant liver tumors . HepatobHepatoblastoma can remain asymptomatic for months, with painless swelling probably occasionally occurring in the upper right abdominal area in the early stages . In geneHepatoblastoma, derived from degenerated hepatoblasts, generally appears as a well-circumscribed, encapsulated, solitary, large solid liver mass with lobulated contours, while a small part may present as multiple lesions . HepatobUltrasound: On conventional B-mode ultrasound, hepatoblastoma can present mostly as a solitary mass, a dominant mass with satellite lesions, multiple nodules throughout the liver, or rarely a diffuse infiltrative mass involving the whole liver (p < 0.001) and liquefaction  were more frequently found in hepatoblastoma than in HCC.le liver  56]. Mo. MoUltrap = 0.004]), while IHH was characterized by arterial flow with RI lower than (<0.7) and/or venous flow. Additionally, tumor thrombi in the portal or hepatic veins may also be observed [Color Doppler imaging can be used to detect the presence of high velocities within tumor tissue and the invasion of the hepatic and portal veins, strongly supportive for the diagnosis of malignant tumors . Pan et observed . Howeverobserved . AlthougCEUS: Like other liver malignancies, during the arterial phase, hepatoblastoma can show early peripheral hyperenhancement. During the late portal venous phase, it shows marked washout [ washout ,60. Wang washout  analyzed washout . However washout .CT: On unenhanced CT, hepatoblastoma appears extremely variable, due to the histologic composition of the tumor. It typically presents as a well-defined, slightly hypodense mass compared to the adjacent liver parenchyma. Some hepatoblastomas, such as epithelial hepatoblastomas, appear more homogeneous, while the mixed type hepatoblastomas appear to be mostly heterogeneous. Calcifications can be observed in more than half of the hepatic lesions and are usually small, fine lesions found in epithelial type hepatoblastomas and are more gross and extensive in mixed type hepatoblastomas.Following the injection of contrast agents, hepatoblastoma generally shows a heterogeneous pattern of enhancement, sometimes revealing a peripheral hyperdense rim in the early arterial phase and an iso- or hypodense rim on delayed images. Approximately half of hepatoblastoma lesions appear lobulated or septate, especially on contrast enhanced images. Baheti et al.  studied MRI: MRI provides multiplanar images of primary liver tumors with excellent depiction of vascular anatomy. Epithelial hepatoblastoma typically shows as homogeneous and slightly hypointense on T1-weighted images and hyperintense on T2-weighted images. Mixed hepatoblastoma demonstrates more heterogeneous signal intensity features due to varying amounts of components as noted [as noted . Fibrotias noted . Vasculaas noted . Diffusias noted  reportedOn contrast enhanced magnetic resonance imaging (CEMRI), hepatoblastoma typically reveals a heterogeneous enhancement pattern, which is usually hypointense compared to adjacent liver parenchyma during all phases of post-contrast imaging . Mayers Other imaging techniques: A benefit of positron emission tomography (PET) is the ability of whole-body imaging, which may be useful in realizing or excluding possible bone metastases. Zhang et al. [g et al.  reportedSurgical resection with pre- and/or post-operative chemotherapy forms the mainstay of therapy for hepatoblastoma, with some cases of hepatoblastoma remaining unresectable due to large size, multifocality, and/or location close to major vascular structures . NeoadjuThe 5- and 10-year overall reported survival in pediatric patients with hepatoblastoma were 81.5% and 81.0%, respectively . Ke et aPediatric HCC is the 2nd most common pediatric malignant liver tumor after hepatoblastoma, accounting for approximately 1/5 to 1/3 of all liver cancers in pediatric patients . The oveThe common symptoms of pediatric HCC include abdominal mass, abdominal pain, weight loss, and other nonspecific symptoms. In advanced cases, children often have cachexia, jaundice, and gastroesophageal reflux. Symptoms and signs of portal hypertension and decompensated end-stage liver disease, such as variceal bleed, encephalopathy, spider naevi, ascites, and clubbing, occur in children with chronic liver disease and/or liver cirrhosis. Splenomegaly and ascites are associated with the degree of portal hypertension ,75. SeruThree pathologic types of HCC could be seen in pediatric patients. Classic HCC is the most common, resembling adult type HCC. Fibrolamellar HCC is a distinctive neoplasm arising in non-cirrhotic liver as large, solitary, and circumscribed mass. Fibrolamellar variants are composed of large cells and copious eosinophilic cytoplasm in a lamellated stroma . This foUltrasound: Pediatric HCC typically presents with a heterogeneous, predominantly hyperechoic structure with variable size with increased vascularity [cularity . Anechoicularity . In contcularity .p < 0.05), less tumor infiltration into veins , and lower incidence of PRETEXT stage IV , likely due to surveillance imaging. The study supports the role of routine surveillance imaging in pediatric HCC with predispositions to facilitate early tumor detection.Prior studies have shown that pediatric HCC tends to be larger in size than adult HCC at initial presentation. The latter might be due to a higher basic cellular liver growth rate in infants and children . In addiCEUS: The use of CEUS in adults for the diagnosis and differential diagnosis of HCC has been well described [escribed . Pediatrescribed  [Figure escribed .CT: Pediatric HCC on CT may show variable appearances and nonspecific features such as slightly hypodense or isodense, solitary or multiple, heterogeneous or homogeneous, and ill- or well- defined features [features . Due to features . During features . The lesfeatures . In addifeatures  describefeatures .MRI: On MRI, HCC in the pediatric population usually likewise shows as variable but predominantly slightly hypointense on T1-weighted images and mildly hyperintense on T2-weighted images, and heterogeneous signal intensity is often seen in larger lesions [ lesions . After i lesions . On T1-  lesions . On gado lesions . Both DW lesions ,98. MostThe Liver Imaging Reporting and Data System (LI-RADS) proposed by the American College of Radiology (ACR) provides standardized criteria for reporting CT and MRI findings in adults at risk of developing HCC but not in the pediatric population . StandarOther imaging techniques: Areas of high metabolism may aid in the detection of extrahepatic locations that may be missed by other imaging techniques. Pessanha et al. [a et al.  investigImaging features of fibrolamellar HCC: Fibrolamellar HCC typically demonstrates as a solitary well-defined mass with a heterogeneous but predominantly iso- or hyperechoic appearance and a hyperechoic central scar on ultrasound [p < 0.01). CEUS could reliably diagnose fibrolamellar HCC as a malignant FLL and show differentiation between fibrolamellar HCC and FNH lesions.trasound . Dong ettrasound  evaluateFibrolamellar HCC exhibits similar features to classic HCC on unenhanced CT (hypodense) or MRI and CECT or CEMRI . The cenImaging features of HCN-NOS: HCN-NOS is a new provisional entity that demonstrates complex morphologies and an admixture of histological patterns typical of both HCC and hepatoblastoma in the same tumor in some cases [me cases . These tme cases . On imagme cases .Treatment of pediatric HCC is challenging, including surgical tumor resection, systemic chemotherapy, targeted therapies, liver transplantation, and radiological interventions such as radiofrequency ablation (RFA) and transfemoral hepatic artery chemoembolization (TACE). Complete surgical resection is essential for curative treatment, but approximately more than 80% of pediatric patients present with unresectable HCC with advanced stage with vascular invasion, multifocal involvement, or extrahepatic metastasis ,107,108.p = 0.045). Previous research has shown that the PRETEXT stage, recurrence, vascular invasion, tumor size, and distant metastases are associated with the outcome of liver transplantation in pediatric patients with HCC [Overall, due to the development of surgical techniques and medical imaging follow-up methods, the 5-year survival rate of pediatric patients with non-metastatic, resectable HCC might increase up to 70–80%, while it remains less than 20% in children with unresectable HCC ,107. Wanwith HCC . It is rwith HCC  evaluateCCA is an adenocarcinoma from a bile duct that develops from the epithelial cells of the intrahepatic and extrahepatic bile ducts, primarily occurring in the adult population and exceedingly rare in children, accounting for less than 1% of all malignant FLLs in pediatric patients . The oveAbdominal pain, jaundice, pruritus, and elevated carbohydrate antigen 19-9 (CA19-9) are the most common clinical signs. Pediatric patients with intrahepatic cholangiocarcinoma (iCCA) may show fewer dominant strictures and obstructive symptoms than those with extrahepatic cholangiocarcinoma (eCCA) therefore making iCCA more difficult to be diagnosed clinically, especially in those patients with existing intrinsic liver disease, such as intrahepatic Caroli’s disease and progressive familial intrahepatic cholestasis .The macroscopic type of iCCA can be subcategorized into the mass-forming type, the periductal infiltrating type, and the intraductal growing type . MicroscUltrasound: Ultrasound is generally used as an efficient method for routine screening and CCA surveillance of high-risk pediatric patients. Pediatric CCA usually shows as hypo- to isoechoic soft tissue on ultrasound. A round and dilatated common bile duct (CBD) associated with a dilatation of the intrahepatic bile ducts might be observed in pediatric CCA patients with congenital biliary dilatation [latation .CEUS: Although the CEUS features of CCA are rarely reported, malignant FLLs have similar CEUS characteristics with rapid hyperenhancement in the arterial phase followed by early and marked washout during the portal venous phase [us phase . In adolus phase .CT: CCA is usually hypodense on unenhanced CT images and shows variable enhancement on CECT and mostly shows only mild enhancement on delayed images [d images . Stone fd images . Chest CMRI: On unenhanced MRI, the lesions are usually slightly hypointense on T1-weighted images and slightly hyperintense on T2-weighted images, and present similar enhancement patterns to CT. The peripheral lesions show hepatic capsular retraction. Chavhan et al. [n et al.  presenteOther imaging techniques: In advanced stages of CCA with metastatic lesions, a PET/CT scan from the skull to thigh may show numerous hypermetabolic and nonmetabolic pulmonary lesions as well as multiple hypermetabolic hepatic lesions [ lesions .Chances of survival are related to the resectablity of the lesions, therefore, the early detection of CCA is crucial for survival as it allows for a prompt surgical approach. The surveillance of children and adolescents with biliary diseases, particularly primary sclerosing cholangitis and congenital biliary dilation, may contribute to the earlier detection of CCA and therefore potentially lead to better survival outcomes. However, patients with metastatic lesions have poor outcomes regardless of surgical intervention . OverallMalignant FLLs are commonly diagnosed in adults but should also be paid attention to in pediatric patients. Accurate descriptions of radiological and histopathological characteristics may be useful in distinguishing these lesions more precisely. CEUS has proved to be a non-invasive, safe, and effective method to locate, characterize, and make clinical follow-ups of malignant FLLs in pediatric patients.


Cerebellar mutism syndrome (CMS) is a well-known complication of posterior fossa (PF) tumour surgery. CMS has previously been reported in cases of non-tumour surgical aetiology in a limited number of publications. We report a case of a 10-year-old girl who suffered a cerebellar haemorrhage and subsequent CMS following surgical treatment of a ruptured arteriovenous malformation (AVM) in the cerebellar vermis. The AVM was removed acutely through a transvermian access, and hydrocephalus was treated with temporary external drainage. In the postoperative period, she suffered diffuse vasospasms of the anterior cerebral circulation and had a permanent shunt placed for hydrocephalus. Her mutism resolved after 45 days but severe ataxia persisted. To our knowledge, this is the first reported case of CMS related to a vermian haemorrhagic stroke with postoperative diffuse vasospasms. Based on this case, we present a literature review on CMS of non-tumour surgical origin in children. CMS is a well-described complication of PF tumour surgery in children affecting up to 30% of cases. It typically arises within 1–10 days postoperatively . PreoperSplitting the vermis (transvermian approach) has been suggested as a surgical risk factor of CMS, resulting in recommendations such as vermis-sparring surgical techniques (including the telovelar approach) to reduce the risk. Conflicting results have been published on this matter , 5.It is broadly acknowledged that the dentate-thalamo-cortical pathway (DTCp) plays a central role in the development of CMS explained by proximal damage  to the dentate nucleus (DN) or superior cerebellar peduncle (SCP) leading to a disruption of the pathway resulting in cerebello-cerebral diaschisis and localized supratentorial hypoperfusion .Traditionally, CMS has been related to PF tumour surgery; however, non-tumour surgical cases have been described including PF stroke, traumatic brain injury, cerebellar infection and inflammation as well as metabolic diseases –46. A vaThe aim of this study is to present a case of CMS following a haemorrhagic stroke from an AVM in the vermis in a paediatric patient. As the literature on CMS related to non-neoplastic pathologies is scarce, we additionally conducted a comprehensive literature review of paediatric cases of CMS of non-tumour surgical origin.We present a 10-year-old girl, right-handed with unremarkable health and developmental history, who while watching TV suffered a sudden onset of frontal headache, quadriparesis and explosive vomiting followed by seizuring. She lost consciousness, was intubated and rushed to the hospital. On admission, she had isochoric pupils with normal light reflex. A computed tomography (CT) scan was performed showing a haemorrhagic lesion of the PF involving vermis with perforation to the ventricular system and hydrocephalus .The girl was extubated on the first postoperative day uttering single words or short sentences. She had ataxia of the upper extremities and ocular motor control difficulties. She spoke few words on the 3rd postoperative day and underwent a postoperative digital subtraction angiography (DSA), which showed no sign of residual AV shunting.On day 4, she had full onset mutism accompanied by agitation and emotional irritability. Her auditory and verbal comprehension was deemed intact as she was able to respond adequately to questions by squeezing either her right or left hand.A follow-up magnetic resonance imaging (MRI) of the brain on the 11th postoperative day showed oedema and haematoma involving both superior cerebellar peduncles (SCP) and vermis, a small haematoma remnant in the surgical cavity and perifocal oedema surrounding the cavity Fig. .Fig. 3MRHer EVD was removed on day 17. Increased agitation was observed in the following days. On day 19, a CT cerebral angiography was performed due to sudden onset of right upper extremity paralysis showing narrowing of the anterior cerebral artery (ACA) and median cerebral artery (MCA) bilaterally as well as hydrocephalus. A diagnosis of vasospasms was suggested but not confirmed on a DSA. Furthermore, there was doubt whether the possible vasospasms were in fact the cause of her localized paresis. There was no angiographic evidence of AVM remnants. Hydrocephalus was treated with reimplantation of an EVD and replaced by a ventriculo-peritoneal (VP) shunt 3 days later. She was transferred to the neurointensive care unit for conservative treatment of vasospasms with calcium antagonists (nimodipine 1 g/kg × 6) for 7 days. A follow-up CT cerebral angiography on day 20 showed no signs of vasospasms. Due to dysphagia, she had a gastrostomy tube inserted on day 26. On day 33, she was transferred to a specialized neurorehabilitation unit. Her right upper extremity paresis had resolved but she suffered from global hypotonia.Her mutism lasted 45 days and on day 49 she started producing single words. On day 77 she was discharged to outpatient rehabilitation, with ongoing symptoms of ataxic dysarthria and dysprosody. Prior to discharge, her neuropsychological evaluation with WISC-V  and TOMAL-2  revealed reduced verbal working memory and learning ability.At 4-month follow-up, she was able to speak in full sentences, however still dysarthric. Furthermore, she suffered from severe upper limb ataxia and was dependent on a walker. The last follow-up was 12 months post ictus where cognition and language were re-established; however, she suffered from marginally slowed speech and slight dysarthria. She had ataxia and impaired balance primarily on the right side. She was able to write with her right hand, although compromised, and ate without dysphagia.A PubMed literature search until November 31, 2022, was conducted. The search generated 347 articles. The following MeSH search term was used: (((“Mutism”[Mesh] OR Mutism OR mute)) AND (“Adolescent”[Mesh] OR “Child”[Mesh] OR “Infant”[Mesh] OR Adolescent OR Child OR Infant OR Paediatric OR Pediatric)) AND ((“Cerebellar Diseases”[Mesh] OR Cerebellar OR Posterior Fossa)))).Inclusion required the following: (1) mutism of cerebellar origin, (2) no cerebellar tumour surgery, (3) paediatric patients defined as < 18 years at diagnosis. All titles and, when relevant, abstracts and full articles were reviewed by the first author. Forty case reports were included in the literature review and previous relevant focused literature reviews were included as references in the discussion. Cross-checking references from included case reports yielded no additional relevant articles. Figure Table Included publications contained a total of 58 reported cases divided into groups depending on the probable or known cause of cerebellar mutism.Mutism ranged from 2 days to > 180 days with a median of 14 days; however, some articles did not report the exact duration of mutism. Predominant accompanying symptoms involved limb or truncal ataxia, behavioural changes and hypotonia, as well as subsequent ataxic dysarthria. Predominant persisting neurological deficits at the final follow-up involved dysarthria, slow speech and gait or limb ataxia with follow-up ranging from 2 weeks to 6 years. One case died after 26 days from the primary incident, 2 articles did not include follow-up in the history and 5 articles did not report follow-up time.n = 17 in 5 case reports [n = 3 [n = 2 [n = 1 [The most frequently reported causes were cerebellitis due to rotavirus 3 [n = 2 , 17) and2 [n = 1 ). In 10 2 [n = 1 , 35–37),Duration of mutism lasted from 2 days to < 180 days. Two cases had hydrocephalus treated with EVD and 1 case was treated with a VP shunt. Case information from one article in Spanish was included only from the abstract.Eight patients in 7 case reports were identified , 43, 44.Mutism lasted from 4 days to > 180 days (mute at last follow-up) and 1 article did not account for the duration of mutism.Two reports each with a single case describe CMS related to a cavernous malformation , 45, theOne case report described mutism in a single patient after suffering a spontaneous haemorrhagic stroke in the vermis  without A single case reported mutism from a spontaneous intratumoural haemorrhage lasting a total of 10 days . The tumFive patients suffering mutism following a vascular ischaemic stroke were described in 3 case reports , 26, 32.Eight patients in 7 case reports were identified , 28, 46.We found one case of reported mutism related to a metabolic disorder (ornithine transcarbamylase deficiency). This X-linked urea cycle disorder results in neurotoxic hyperammonaemia with neurologic symptoms such as seizures, decreased consciousness and abnormal motor function . In thisThis case of CMS in a 10-year-old girl following emergency surgery for a ruptured vermian AVM and the additional literature review support alternate aetiologies other than cerebellar tumour surgery to potentially result in CMS.vascular origin in 2007 and found 10 published cases. Makarenko et al. [of non-surgical origin in 2017 finding 20 patients. Lahirish et al. [head trauma in 2021 and included 6 patients. Thus, the current literature review contributes with an updated, comprehensive and collected overview for future reference. An important note is that the majority of case reports (n = 30/40) included in this literature overview were published prior to the Delphi Consensus definition of CMS [In our literature search, we encountered a few reviews on subgroups, but no previous comprehensive literature review of paediatric cases of CMS of non-tumour surgical origin. Baillieux et al.  reviewedo et al.  reviewedh et al.  reviewedThe anatomical substrate of CMS is broadly acknowledged to be a cerebello-cerebral efferent pathway, namely the DTCp, where proximal damage to the tract results in diminished cerebellar input to the cerebral cortex. Additionally, recent research has suggested that the fastigial nucleus and the periaqueductal grey matter may play an underappreciated role in this syndrome . NumerouThe reason for CMS in our case is likely to be multifactorial supporting the theory of CMS originating from various pathophysiological mechanisms. Our patient suffered tissue trauma—both from the stroke and surgery—to presumed critical structures of the syndrome; her imaging showed blood and oedema involving SCP and the deep cerebellar structures bilaterally. In addition, she had possible diffuse vasospasms of the anterior cerebral circulation and suffered from hydrocephalus, treated initially with an EVD and then with a permanent shunt after a failed attempt to relieve her from the EVD.Our comprehensive literature review supports the theory of CMS being due to damage of anatomical substrates, regardless of aetiology, rather than being a direct consequence of PF tumour surgery. Concomitantly, several cases reported CMS after non-tumoural PF surgery, both endovascular , 12 and During the admission, our case experienced a sudden onset of right upper extremity paralysis with a CT cerebral angiography suggestive of vasospasms, however not confirmed by DSA. A CT cerebral angiography the following day showed normalization of the artery caliber. Diffuse vasospasms in PF tumour surgery have previously been reported in cases  but to oNo substantial pharmacological treatment of CMS has been published. Fluoxetine, zolpidem, bromocriptine and donepezil have been suggested but only reported in a small number of cases . AlthougOur review reveals that several cases of CMS of non-surgical aetiology have been published, ranging from infection and subsequent cerebellitis over spontaneous intratumoural bleeding and stroke-induced to direct cerebellar trauma. Predominant radiological findings included lesions in the vermis and diffusion restriction in DN. A study by Di Rocco et al.  on 34 chEven though no analytical statistics were applied in this article, there may be a tendency toward mutism duration lasting longer in AVM cases. The median duration of mutism was 29 days in the AVM group, whereas the median duration of mutism in the TBI and cerebellitis group was 14 days corresponding well with the median duration of 16 days found in the study of PF tumours by Grønbæk et al. [Mutism is the most apparent syndrome of CMS, but long-term neuropsychological consequences in children suffering from PF tumours with subsequent CMS have gained increased focus in the recent years. In our case, the patient had a remarkable performance in school prior to the ictus according to her parents. During her in-hospital rehabilitation around day 75 postoperatively, TOMAL-2 and WISC-V showed reduced verbal working memory and reduced learning ability suggesting long-term neuropsychological problems as consequences of her disease. Children with CMS seem to experience a significant decline in their intellect , althougThis case presentation along with the accompanying literature review provides evidence that CMS can be of non-tumour surgical origin, symptoms being similar to CMS related to PF tumour surgery. Furthermore, our presentation suggests that a broader range of pathologic factors than previously acknowledged may have the potential to cause CMS including a potential role of vasospasms. Clarifying such factors could point at treatment options to alleviate symptoms. In this way, PF pathology of non-tumoural aetiology may be helpful in explaining this severe and devastating syndrome.


Ectopic pregnancies, characterized by the implantation of a fertilized ovum outside the uterine cavity, typically occur in the fallopian tubes. However, rare cases have been reported where implantation occurs in atypical locations. Round ligament pregnancy, a rare form of ectopic pregnancy, poses significant risks and can lead to life-threatening complications. This case report describes the presentation and management of a 31-year-old gravida four, para two (G4P2012) female who presented with acute left lower quadrant and pelvic pain. The patient’s medical history included a prior bilateral salpingectomy. Physical examination revealed severe left lower quadrant tenderness with guarding. A positive urine pregnancy test and elevated serum quantitative beta-human chorionic gonadotrophin level of 1,735 mIU/mL  confirmed pregnancy. Transvaginal ultrasound revealed an empty intrauterine cavity with no gestational sac or fetal pole. A 2 cm cystic structure was identified attached to the left ovary. Ectopic pregnancy was diagnosed, methotrexate was administered, and the patient was discharged with a scheduled outpatient follow-up. However, she returned to the emergency room within 48 hours reporting persistent pelvic pain. At this moment, it was decided that emergent surgical intervention was required. The surgical exploration confirmed the presence of a ruptured ectopic pregnancy in the round ligament, requiring excision and hemostasis. This case report highlights the importance of considering abnormal localization of ectopic pregnancy as a differential diagnosis in women presenting with pelvic pain, even after bilateral salpingectomies. It emphasizes the challenges in diagnosis and management when ectopic pregnancy occurs in atypical sites and highlights the necessity for vigilant follow-up and prompt surgical intervention when medical management fails. Ectopic pregnancies account for approximately 1-2% of all pregnancies and pose a significant risk to maternal health . AbdominA 31-year-old woman, gravida four, para two (G4P2012), presented to the emergency department with sudden-onset lower abdominal pain and vaginal bleeding. Her medical history was notable for a bilateral salpingectomy performed two years earlier for birth control during a cesarean section. The patient had a regular menstrual cycle, and her last menstrual period occurred two weeks before the presentation.The patient appeared pale on physical examination and exhibited mild tenderness in the left lower quadrant. The patient had a positive pregnancy test and a beta-human chorionic gonadotropin (β-hCG) of 1,735 mIU/mL. A transvaginal ultrasound revealed an empty uterus with a complex adnexal mass on the left side. No intrauterine pregnancy was visualized. Considering the clinical presentation and imaging findings, an ectopic pregnancy was suspected. The patient was administered methotrexate and discharged with planned outpatient follow-up. However, the patient failed methotrexate treatment and returned to our institution’s emergency department 48 hours later, complaining of persistent, severe abdominal pain. At that point, a decision was made, and the patient underwent an exploratory laparoscopy, during which an ectopic pregnancy was identified within the round ligament on the left side. The operation was conducted robotically. The left ovary was observed and found to be clean with no evidence of ectopic. However, just above the left round ligament, a 2 cm ectopic was identified and dissected (Figure Here, we reported a unique case of an ectopic pregnancy in the round ligament, an exceptionally rare location of abdominal pregnancies. The exact mechanism leading to implantation in this location remains unclear. However, in cases where the fallopian tubes have been surgically removed, such as in our patient who had undergone bilateral salpingectomy, it is postulated that the fertilized ovum may reach the round ligament through retrograde migration or secondary implantation from the peritoneal cavity . Other pTransvaginal ultrasound is a valuable tool for diagnosing ectopic pregnancies, but its effectiveness may be limited in cases where the ectopic pregnancy is located outside the fallopian tubes . In suchSeveral cases of ectopic pregnancies in atypical locations following tubal surgery have been reported in the medical literature. In a systematic review by Yoder et al., 28 cases of abdominal or heterotopic ectopic pregnancies were identified. Overall, 50% of cases were identified to have received tubal surgery, with 32% specifically undergoing a bilateral salpingectomy . This deThese findings, as well as the case we describe here, suggest the importance of high clinical suspicion and rapid surgical management to preserve fertility and prevent complications in this cohort. Ultimately, management of ectopic pregnancy in the round ligament involves a surgical intervention to remove the ectopic pregnancy and achieve hemostasis. Surgical procedures in the pelvic space have several associated risks . TransecThis case report presents a rare occurrence of ectopic pregnancy in the round ligament following bilateral salpingectomy. The diagnostic challenges associated with ectopic pregnancies in atypical locations underscore the importance of considering this possibility in patients with a history of tubal surgery who present with abdominal pain and vaginal bleeding. Laparoscopy remains the preferred approach for diagnosis and management. Further investigation into the etiology and pathophysiology of abdominal ectopic pregnancies is required. Understanding this unique mechanism of disease presentation can allow clinicians to develop guidelines for diagnosis and management. Increased awareness of this rare phenomenon is essential to ensure prompt intervention and prevent potentially severe complications.


An elderly man presented to the emergency department with shortness of breath, peripheral edema, and significant weight loss. Blood tests revealed anemia and elevated inflammatory markers, and chest imaging showed a massive left pleural effusion. During hospitalization, he developed subacute cardiac tamponade, and pericardiocentesis was performed. Further imaging revealed a primary malignant cardiac tumor with extensive infiltration of the cardiac tissue, and biopsy was deemed impossible due to the tumor’s location. The most likely diagnosis was angiosarcoma. The cardiac surgery team evaluated the case and considered it inoperable due to the tumor’s extensive infiltration. The patient is currently under the regular care of a palliative care team. This case underscores the difficulties of diagnosing primary cardiac tumors, particularly in elderly patients with comorbidities. Despite advances in imaging and surgical techniques, the prognosis for malignant cardiac tumors remains poor. Cardiac masses are extremely rare, with a reported incidence ranging from 0.001% to 0.3% in various studies ,3. They We present a case of a primary cardiac tumor in an elderly man that highlights the challenges in diagnosis of this entity.This case was presented as a poster at the Portuguese Congress of Internal Medicine on May 5, 2023.A man in his mid-80s presented to the emergency department with complaints of shortness of breath at rest, orthopnea, paroxysmal nocturnal dyspnea, and peripheral edema that had progressively worsened over the past four days. He also complained of anorexia, weight loss of 15 kg in the last year, generalized myalgia, and strength loss.On physical examination, his vital parameters were normal. He was polypneic, had diminished breath sounds on the left lung base, and had pretibial edema.He had a pacemaker and a past medical history of atrial fibrillation, non-stratified heart failure, diabetes, hypertension, hyperlipidemia, anemia, and prostate cancer in remission. The patient’s usual medication included edoxaban 60 mg, furosemide 40 mg, perindopril 5 mg, amlodipine 5 mg, simvastatin 40 mg, pantoprazole 40 mg, folic acid 5 mg, ferrous sulfate 329.7 mg, metformin 700 mg, sucralfate 1000 mg, budesonide/formoterol 160/4.5 ug, and quetiapine 25 mg.Blood tests revealed a hemoglobin level of 7.2 g/dL and elevated inflammatory parameters, including a white cell count of 13.4 × 109/L and a C-reactive protein level of 7.34 g/dL  and high levels of protein (7.2 g/dL) and LDH (532 U/L). Cytological examination of the fluid revealed no malignant cells, and cultures were negative. To determine the cause of the subacute pericardial effusion, various exams were performed, including serologies and cultures, which were negative. Autoimmunity tests were also negative, and metabolic, radiation, and drug causes were excluded. The most likely cause at this point was neoplastic. Computed tomography of the chest, abdomen, and pelvis revealed a mass in the left auricula Figures , 2, but Transesophageal echocardiography revealed the presence of a heterogeneous vascularized mass with irregular borders in the anterolateral wall of the left atrium and with infiltration of the external region of the mitral valve and lateral wall of the left ventricle. Due to the location and extent of the tumor, a biopsy for diagnosis was deemed impossible, and a presumptive diagnosis of a primary cardiac tumor was made. PET-FDG confirmed the suspicion of a high metabolic grade malignant lesion Figures , 4.Based on the location and characteristics of the tumor, the most probable diagnosis was an angiosarcoma, which is the most common primary malignant tumor of the heart, known for its widespread local invasion and potential to cause pericardial effusion ,5. RhabdAlthough rare, cardiac metastasis from prostate cancer should be considered in this patient due to his medical history. However, a PET scan has excluded this possibility. The PET results also excluded a benign tumor, so myxoma, which commonly occurs in the left atrium (90% of cases) [The cardiac surgery team evaluated this case and deemed it inoperable due to extensive infiltration of the cardiac tissue and perioperative risk. Due to the patient’s age, cardiac transplantation or open chest surgery for biopsy was not considered a viable option. As a result, chemotherapy could not be initiated without a histopathologic diagnosis.The patient is currently under observation, and the best medical approach for his comorbidities has been established. The patient is being closely monitored by a palliative support team.This case report describes a primary cardiac tumor in an elderly man and highlights the challenges in diagnosing and managing this condition.As noted earlier, primary cardiac tumors are extremely rare  and haveEven though only a biopsy and histopathological evaluation would allow a definitive diagnosis , due to The prognosis of primary malignant tumors remains poor despite the technological advancements due to their aggressiveness, high rates of relapse, limited treatment options available (particularly for inoperable cases), and possible complications .Primary cardiac tumors are extremely rare, and they may manifest with symptoms that are difficult to pinpoint, causing a delay in diagnosis and an increased burden of illness. Detecting them necessitates a high level of suspicion, and imaging techniques such as echocardiography and cardiac magnetic resonance can assist with the diagnosis. Nonetheless, a biopsy and histopathological evaluation are required for a definitive diagnosis. Treatment and prognosis are determined by the type and location of the tumor. Treatment options may be limited in elderly patients with comorbidities who have an inoperable tumor. In certain instances, close observation and palliative support may be the most appropriate course of action.


Intramuscular hemangioma (IMH) is an uncommon type of hemangioma, and primary IMH of the intercostal muscle is even rarer. Only a few reports describe IMH of the intercostal muscle, and there are no review articles on this topic. We report our experience with a younger female patient, who underwent video-assisted thoracic surgery with tumor resection and review the previous literatures of intercostal IMH.An asymptomatic 17-year-old woman showed a 29-mm, homogeneous, intrathoracic nodule in the left chest wall, attached to the second and third ribs on computed tomography. We performed exploratory thoracoscopic surgery and the tumor was excised without surrounding rib resection. Histopathologic examination of the surgical specimen revealed proliferation of small blood vessels within the surrounding striated muscle, leading to the diagnosis of intercostal IMH. The surgical margin was negative. The patient’s postoperative course was uneventful, and there has been no evidence of recurrence for more than 18 months after surgery.We describe a case of intercostal IMH, who received tumor resection with clear excision margin without surrounding rib resection. Preoperative diagnosis is challenging due to its rarity, but intercostal IMH should be recalled as a differential diagnosis of chest wall tumor. Tumor excision without surrounding rib resection is acceptable for intercostal IMH, when there is a good possibility of achieving negative surgical margin. Intramuscular hemangioma (IMH) is an uncommon type of hemangioma, and primary IMH of the intercostal muscle is even rarer. Only a few reports describe IMH of the intercostal muscle, and there are no review articles on this topic.We describe herein our experience with a younger female patient with IMH arising from the intercostal muscle, who underwent video-assisted thoracic surgery with tumor resection; we were able to achieve negative margin without resecting the surrounding ribs. We also provide a review of the English-language literature on the subject of intercostal IMH, to elucidate the clinicopathological characteristics.An asymptomatic 17-year-old woman was referred to our institution when an abnormality on chest radiography was noted during her routine medical check-up. The x-ray showed a nodular shadow at the left upper lung field . In addition to these, positive immunostaining for CD31 and CD34, blood vessel markers, led to the diagnosis of IMH. Hemangioma is classified into 3 types: small vessel, large vessel, and mixed [IMH is frequently found in the muscles of the upper and lower extremities; intercostal IMH represents 1.2–1.4% of all IMH diagnoses . We idenThe preoperative diagnosis of IMH is challenging due to the rarity of this tumor type. One researcher found that a correct preoperative diagnosis was made in only 19% of 335 patients –19. ExteWe describe a case of IMH arising from the intercostal muscle, who received tumor resection with clear excision margin instead of resection of surrounding ribs, and review the previous literatures of IMH of the intercostal muscle. Preoperative diagnosis is challenging due to its rarity, but intercostal IMH should be recalled as a differential diagnosis of chest wall tumor. Tumor excision without surrounding rib resection is acceptable for IMH lesion of the intercostal muscle when there is a good possibility of achieving negative surgical margin.


A woman in her fifty-seventh year appeared with a painless swelling on her left lower lip that had been present for three years. The size of the swelling was noticeably increasing in size over time. On examination, there was a lump that was firm, non-tender, and measured 2 cm x 1 cm above the lower lip. The oral cavity, as well as the intraoral mucosa, were normal and unremarkable in appearance. As fine-needle aspiration cytology revealed a spindle cell lesion, she had an excision biopsy performed, followed by bilateral advancement flap closure. Histopathological examination (HPE) revealed a schwannoma in the tissue sample. Schwannomas are rare, benign neural tumors originating from Schwann cells. They are mainly asymptomatic and have a moderate rate of growth. Excision is the recommended treatment for schwannomas. Proper surgical planning and postoperative monitoring are crucial for optimal wound healing and complete recovery. Peripheral nerve tumors are mostly benign and consist of neurofibroma and schwannoma (neurilemmoma) , both of.This patient was a 57-year-old woman with underlying hypertension and dyslipidemia. She presented with a painless left lower lip swelling for three years. The swelling was gradually increasing in size. There was no history of insect bite, lip biting, or trauma. There was never an ulcer or discharge as well. On examination, there was a firm swelling measuring 2 cm x 1 cm over the inferior lip  with a fascicular pattern of cells with bland-looking spindled to ovoid nuclei within a collagenous background. Verocay bodies are seen. Immunohistochemistry showed strong and diffuse positivity for S100 protein Figures -12.Most tumors on peripheral nerves are benign. They consist of neurofibroma and schwannoma (neurilemmoma) , both ofIn the fourth week of embryological development, the neural crest's ectomesenchymal cells gave rise to Schwann cells . SchwannThe VIII cranial nerve (acoustic neuromas) is the most frequently impacted . The heaHistologically, they are easily distinguishable from other lesions. The tumor is composed of fibrocellular bundles forming a whorled pattern. There are two types of tissue arrangement: Antoni-A and Antoni-B. An alternation between Antoni A and B regions is common ..There are areas of dense and compact cellularity (Antoni A pattern) alternating with loose acellular areas (Antoni B pattern). Areas of the Antoni A pattern show palisaded nuclei called Verocay bodies. Nerve fibers are usually stretched over the capsule but not within the tumor as in Figures 10Schwann cells characteristically express S-100 protein .The distinction between neurofibroma and schwannoma is of the utmost importance. Physically, it may be challenging to differentiate between the two. However, there are histological and genetic differences. Schwannoma develops from Schwann cells, whereas neurofibroma arises in the fibroblasts found in the perineurium.A detailed physical examination is warranted for any patient with schwannoma to rule out lesions in other parts of the body despite, in most cases, it being a unilocular lesion. However, a solitary neurofibroma may be the only presenting symptom of neurofibromatosis. Imaging methods like ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) are helpful for diagnostic objectives, including measuring tumor boundaries and lesion makeup and evaluating infiltration into surrounding structures ,10.Excision is the recommended modality of treatment. A functional surgery can be performed if the nerve can be successfully preserved and dissected away from the schwannoma during surgery to maintain the nerve function . AnotherMalignant transformation and recurrence of the disease is extremely rare. Malignant transformation for schwannoma is very rare, with the incidence of malignant nerve sheath tumors is 0.03 cases per 100,000/year ,13.This case report hopes to enlighten its readers on schwannomas as differentials in a painless swelling, especially in the head and neck region. A thorough examination must be carried out to arrive at a conclusive diagnosis. Proper surgical planning and postoperative monitoring are essential for good wound healing and complete recovery.The author of this case report hopes to enlighten its readers regarding schwannoma. It should be included as one of the differentials of a case of swelling within the head and neck region. Proper history and clinical and histopathological examination are key to establishing the diagnosis. Although it is rare, the location of such a swelling plays an essential role, as surgical excision is the best treatment modality. Even so, conservative monitoring is an option, especially for high-risk anesthesia patients, as malignancy is rare. Thus, the postoperative strategy focuses on recurrence recognition, healing, and cosmetic recovery.


Intussusception is a rare surgical condition in adults less commonly confined to small bowel. Adult intussusception is an indication of surgical resection due to possibility of ischemia and malignant pathological cause like gastrointestinal stromal tumor (GIST) as in this case.A 32-year-old male presented with abdominal pain and vomiting for 3 days. Vitals parameters and abdominal examinations were normal. Abdominal ultrasonography revealed target sign suggesting ileoileal intussusception in right lower quadrant. Abdominal contrast-enhanced computed tomography of abdomen showed features suggestive of ileoileal intussusception. Diagnostic laparoscopy was done which was later turned to laparotomy for segmental resection and anastomosis of ileum for ileoileal intussusception. Polypoidal growth noted in the resected section of ileum was found to be GIST (CD117 and DOG-1 positive) which was considered to be the lead point. Patient recovered well during postoperative period and later referred to oncology clinic for chemotherapy.Intussusception and subsequent obstruction are very uncommon presentation in a patient with GIST because of their tendency to grow in an extraluminal fashion. As intussusception is rare in adult, high level of suspicion and proper imaging technique plays important role in diagnosing the condition.Ileoileal intussusceptions due to GIST are a rare clinical entity in adult intussusceptions and generally have a vague variable clinical presentation thus requiring high index of clinical judgement and suspicion with judicious use of imaging. HighlightsIntussusception refers to telescoping of proximal segment into lumen of distal segment of bowel causing obstruction, ischemic injury, and death of affected segment.Intussusceptions are uncommon in adults with only about 5% of all the cases among adults and 0.003–0.02% of adult hospital admissions. Approximately 90% of the intussusceptions in adult have a pathological lesion as lead point in which 65% of them are considered to be benign or malignant neoplasms including gastrointestinal stromal tumor (GIST).GISTs are rare clinical conditions, representing less than 0.2% of all gastrointestinal (GI) tumors and only 0.04% of small intestine malignant neoplasms which originate from interstitial cells of Cajal.Diagnosing intussusception in an adult is tough due to absence of classical symptoms, varying presentation, less dramatic and resembling various other disorders of GI tract. Computed tomography (CT) provides a confident identification of intussusception.Surgical resection is the definitive treatment of GIST with adjuvant treatment with imatinib.Intussusception refers to telescoping of proximal segment into lumen of distal segment of bowel causing obstruction, ischemic injury and death of affected segmentHerein, we report a rare case of ileoileal intussusceptions that was managed successfully with segmental resection and anastomosis which later found to be caused due to GIST as a lead point. This case report has been reported in line with the SCARE 2020 criteriaWe reported this case following the updated consensus-based Surgical Case Report (SCARE) GuidelinesA 32-year-old male, serving soldier, with no known comorbidities was referred to our tertiary center with complain of abdominal pain and vomiting for last 3 days on the day of presentation. The pain was sudden in onset, spasmodic in nature, intermittent in type, localized to right lumber and periumbilical region, nonradiating, associated with nausea and abdominal fullness, aggravated by eating food, and no known relieving factors. He also gave history of two episodes of nonbilious and nonblood stained vomiting. There was no history of any trauma, fever, hematemesis, tenesmus, hemoptysis, significant weight loss, hematochezia, abdominal tenderness, night sweat, diarrhea, cough, icterus, and chest pain.He had no history of similar illness in the past. His past history, family history and allergic history were unremarkable. He was nonsmoker, did not consume alcohol and had normal bowel and bladder habit.On examination his vitals parameters were stable and the patient looked fair without abdominal tenderness or distention and no palpable abdominal mass. The laboratory analyses were sent and it showed decrease in platelets count of 134 000 cells/cumm with normal level of hemoglobin of 12.6 g/dl and total leukocyte count of 10 800 cells/cumm with normal range of other laboratory parameters, serology was nonreactive for HIV, hepatitis B, and hepatitis C.Ultrasonography of abdomen was performed which showed bowel in bowel sign in the right lower quadrant measuring 4×4 cm extending over 8 cm giving target sign likely suggestive of ileoileal intussusceptions. Also, contrast-enhanced CT of abdomen and pelvis revealed features suggestive of ileoileal intussusception with preserved vascularity and with no features of bowel obstruction. Along with this colonoscopy was done and showed ileal ulcers and biopsy was taken in the same setting.With adequate evidence and confirmation from clinical presentation of patients and investigatory findings suggesting ileoileal intussusception, the decision for need of surgery was made. The patient underwent diagnostic laparoscopy Fig.  along wiHistopathological examination of the specimen turned out to be GIST, which was positive for CD117 and DOG-1 in immunohistochemistry Figs. A, B. PatAdult intussusceptions are uncommon and rarely diagnosed preoperativelyAbdominal ultrasonography has high sensitivity and specificity in diagnosing intussusceptions, while abdominal radiographs are important to rule out any obstruction in emergency settingUnlike intussusception in children where 90% of cases are idiopathic, ∼90% of the intussusceptions in adult have a pathological lesion as lead point in which 65% of them are considered to be benign or malignant neoplasms including GISTGISTs are pathologically defined by positive immunostaining for c-kit proto-oncogene – CD117 (overexpressed in 95%) and CD34 (positive in 60–70%) en bloc or initial reduction followed by more limited resectionTreatment of adult intussusception is always surgical. However, management of intussusceptions remains debatable versus primary The treatment of choice for localized GIST is complete surgical resection. Routine removal of lymph nodes is typically not necessary as lymph node metastases are rare. Adjuvant treatment with imatinib, tyrosine kinase inhibitor following surgical resection of GISTs can significantly reduce the risk of disease recurrenceIleoileal intussusception due to GIST is a rare clinical entity in adult intussusception. Its diagnosis is quite challenging and difficult because of the rarity of the condition itself and the nonspecific presentation. CT represents the definitive diagnositic imaging modality comparative to other imaging modalities. And surgical resection is the definitive treatment of ileoileal intussusceptions GIST. Adult intussusceptions and GIST generally have a vague variable clinical presentation thus requiring high index of clinical judgement and suspicion with judicious use of imaging.None.Written informed consent was taken for the publication of the case report and the images. A copy of it is available for review by editor in chief of this journal on request.None.S. Basukala, S.K., S.M., S. Banmala, M.S., M.J., and K.S. were involved in writing, editing, and review of the manuscript. All the authors approved the final version of the manuscript and agreed to be accountable for all aspects of the work.The authors declare that they have no financial conflict of interest with regard to the content of this report.None.Sabin Karki.Not applicable.Not commissioned, externally peer reviewed.


Compressive pathology in the supraclavicular and infraclavicular fossae is broadly termed “thoracic outlet syndrome,” with the large majority being neurogenic in nature. These are challenging conditions for patients and physicians and require robust knowledge of thoracic outlet anatomy and scapulothoracic kinematics to elucidate neurogenic versus vascular disorders. The combination of repetitive overhead activity and scapular dyskinesia leads to contracture of the scalene muscles, subclavius, and pectoralis minor, creating a chronically distalized and protracted scapular posture. This decreases the volume of the scalene triangle, costoclavicular space, and retropectoralis minor space, with resultant compression of the brachial plexus causing neurogenic thoracic outlet syndrome. This pathologic cascade leading to neurogenic thoracic outlet syndrome is termed pectoralis minor syndrome when primary symptoms localize to the infraclavicular area. Making the correct diagnosis is challenging and requires the combination of complete history, physical examination, advanced imaging, and ultrasound-guided injections. Most patients improve with nonsurgical treatment incorporating pectoralis minor stretching and periscapular and postural retraining. Surgical decompression of the thoracic outlet is reserved for compliant patients who fail nonsurgical management and respond favorably to targeted injections. In addition to prior exclusively open procedures with supraclavicular, infraclavicular, and/or transaxillary approaches, new minimally invasive and targeted endoscopic techniques have been developed over the past decade. They involve the endoscopic release of the pectoralis minor tendon, with additional suprascapular nerve release, brachial plexus neurolysis, and subclavius and interscalene release depending on the preoperative work-up. Thoracic outlet anatomy lies at the intersection between treating subspecialties with variable training regarding nerve surgery, open exploration, and less invasive endoscopic techniques.,,,33The thoracic outlet is broadly divided into supraclavicular and infraclavicular fossae . The sup,,,Beyond the scalene triangle, the neurovascular bundle enters the costoclavicular space. This is anterior and inferior relative to the scalene triangle. However, because of the curved anatomy of the thoracic wall and clavicle, the long axis of this space is superior anteromedial to inferior-posterolateral.,,,The prime space in the infraclavicular thoracic outlet is the retropectoralis minor space , also ca,The PM originates from costal cartilage margins of the third through fifth ribs and inserts onto the superomedial aspect of the coracoid, functioning as a dynamic scapular stabilizer .45, 46, The loss of coordinated scapular rotation alters the normal harmony of glenohumeral to scapulothoracic motion, known as the scapulohumeral rhythm.Progressive PM tightness, shortening, and fibrosis, combined with anterior coracoid tilt, decreases the volume of the retropectoralis minor space.,An additional pathology simultaneously occurring from this cascade is suprascapular nerve (SSN) entrapment and resultant traction injury at the suprascapular notch .66,67 Sc,Diagnosing NTOS is challenging, with patients experiencing chronic symptoms and often undergoing several surgeries, such as open brachial plexus dissection, scalenectomy, and first rib resection, with variable outcomes because of initial misdiagnosis.,In contrast to PMS leading to NTOS, patients experiencing VTOS present with different symptoms and sites of pain . As the ,Patients with PMS/NTOS typically lack positive findings to classic provocative thoracic outlet tests, such as rotational neck maneuvers and Adson, Wright, Roos, and Cyriax tests.,,,,,,,One must also rule out alternate etiologies such as cervical radiculopathy, anomalous anatomy, VTOS, alternate peripheral neuropathies, and concomitant shoulder pathology. Cervical and shoulder radiographs rule out osseous anomalies such as the cervical ribs, clavicle malunions, or apical lung masses such as Pancoast tumor.Initial patient management begins with physical therapy. Emphasis is placed on postural correction, scapular kinematics, and targeted PM stretching. A figure-of-eight brace  is worn The diagnosis of concomitant suprascapular nerve compression can be challenging and requires exclusion of alternate diagnoses before surgical intervention.,,Imaging primarily excludes alternate etiologies such as rotator cuff tears, acromioclavicular degeneration, or space-occupying lesions that may compress the SSN.The initial nonsurgical treatment is similar to that of NTOS. Patients who fail 6 months of compliant conservative treatment are considered for surgery. Given the challenges in diagnosis, surgical release is only offered to patients presenting with the above symptoms, lacking alternate etiologies for pain, exhausting nonsurgical treatment, and exhibiting positive injection response (>80% symptom improvement). In our practice, the suprascapular nerve is nearly always concomitantly released during the treatment of NTOS to avoid neglecting any component of the patient’s symptoms.For patients with persistent symptoms despite scapular-focused and extensive (6 months) nonsurgical treatment, surgical management is warranted. This entails endoscopic PM release, with or without additional SSN release, brachial plexus neurolysis, and subclavius release. The following is a detailed, stepwise description of our surgical technique.The patient is secured and properly padded in the beach chair position. A hydraulic arm holder  is often used to manipulate the surgical limb during the procedure. If unavailable, simple traction on the upper limb can also be used. Ensure that the patient is prepared and draped further medially than a typical shoulder arthroscopy. Drape to the sternum medially at the chest and superiorly to the angle of the mandible in the event that supraclavicular access is needed.This is not routinely performed in isolated cases of NTOS. We avoid entering the shoulder joint unless the examination or preoperative imaging detects specific intra-articular pathology that may require intervention. If this is suspected before surgery, a diagnostic shoulder arthroscopy is first performed and any intra-articular pathology is addressed as needed.Of note, if concomitant suprascapular neuropathy is present, suprascapular release and neurolysis is performed first, as described by Lafosse et al.Similarly, 4 portals are used for PM release, brachial plexus neurolysis, and infraclavicular thoracic outlet decompression  to manipulate the viewing angle to achieve the en face view. The coracoacromial ligament, conjoint tendon, and PM tendon create a “T” shape, converging on the coracoid process B. ElectrElectrocautery is then used to release the PM tendon insertion directly off the medial coracoid, beginning at the inferior aspect of the insertion and continuing superiorly C. ReleasAt this stage, suprascapular neurolysis and PM tenotomy are complete A. If theUpon the visualization of neurovascular structures, attention is turned to release of the subclavius muscle from the inferior surface of the clavicle. Again, viewing and working portals are unchanged, with the 70° arthroscope viewing angle maneuvered to look proximally. The now-released brachial plexus cords and axillary vessels are followed proximally and medially until the subclavius muscle is encountered at the inferior surface of the clavicle. The muscle fibers are readily distinct from the surrounding tissue, coursing in a medial-to-lateral direction. Additional fascial bands along this course are released as previously described. The release of the subclavius muscle is performed directly through the visible muscle belly, using an electrocautery wand to minimize bleeding D. The mu,,,The postoperative protocol is provided in In conclusion, NTOS is challenging to recognize, diagnose, and treat. Sound knowledge of scapulothoracic biomechanics and thoracic outlet anatomy is essential to distinguish NTOS from VTOS. The diagnostic algorithm must rule out various mimicking etiologies. Ultrasound-guided injections are a mainstay of diagnosis and are recommended before invasive treatment as they are both diagnostic and prognostic. Therapy to correct scapular dyskinesia and stretching of the PM is often successful. Refractory cases are treated with endoscopic management, avoiding the morbidity of traditional open procedures. Releasing the PM yields high rates of success and can be combined with suprascapular nerve decompression, brachial plexus neurolysis, and subclavius release, as dictated by the preoperative work-up.


Most soft-tissue lesions in the hand and wrist have a benign etiology, and malignant tumors, such as soft-tissue sarcomas, are rare. Mimickers of soft tissue tumors in the hand and wrist are more common than true neoplastic lesions; however, soft tissue pseudotumors that mimic malignancy are very rare.This study describes 2 patients with soft tissue pseudotumors of the hand and wrist. Both patients presented with rapidly growing soft-tissue masses. Magnetic resonance imaging (MRI) revealed ill-defined margins and an aggressive appearance in both cases, leading to a strong suspicion of malignant soft tissue tumors.Both patients underwent incisional biopsies, and the final diagnoses were inflammation due to IgG4-related disease in the first case and chronic granulomatous inflammation in the second case.The first patient was administered oral steroids, while the second patient was treated with anti-inflammatory drugs.Both patients showed a reduction in swelling of the hand and wrist.Although the imaging approach for pseudotumorous lesions is similar to that for true soft tissue tumors, the management of these lesions is different. Biopsies should only be performed when the diagnosis is unclear. Most tumors are benign, and malignant tumors in this location are rare.–8 However, no cases of hand or wrist pseudotumors mimicking malignancy have been reported in the literature.There have been several reports of pseudotumoral soft tissue lesions of the hand and wrist.,3,4 However, malignant tumors of the hand and wrist can also be small and superficial, and some sarcomas present as well-defined masses without peritumoral edema. Conversely, infection or inflammation can present as masses with ill-defined contours or perilesional or fascial edema. Therefore, histological analysis may be necessary for definitive diagnosis.The ability of magnetic resonance imaging (MRI) to differentiate between benign and malignant soft tissue masses in the hand and wrist is controversial. MRI findings indicative of malignancy include large size (>5 cm), deep location, peritumoral edema, skin thickening, lobulation, fascial edema, hemorrhage, and necrosis.We report 2 cases of pathologically confirmed soft tissue hand and wrist pseudotumors that were mistaken for malignancies. We describe the MRI and corresponding pathologic findings and discuss the importance of histologic diagnosis in cases with ambiguous imaging results.A 54-year-old woman presented with a palpable mass on the ulnar side of her left wrist that had first become apparent 3 months earlier. The mass was movable, hard, painful, and had increased in size since its appearance. The patient had no relevant medical histories.Plain radiography revealed focal swelling of the soft tissue in the dorsal left wrist Fig. A. MRI reBecause we could not be sufficiently certain whether the mass was benign or malignant based on imaging information, an incisional biopsy was performed. The mass was hard, palpable and rubbery. It was subcutaneously located on the dorsoulnar side of the left wrist. Histopathological examination revealed the absence of malignant cells. The mass was found to be inflamed, most likely due to immunoglobulin G4-related disease (IgG4-RD).Hematoxylin and eosin slides Fig.  showed m Since IgG4-RD generally responds well to glucocorticoid therapy, we started prednisolone treatment. After 1 week of follow-up, the patient soft tissue swelling improved, and after 4 months of follow-up, it completely disappeared.The patient was transferred to the Rheumatology Department. Laboratory data, including a complete blood count and blood chemistry, were unremarkable. The erythrocyte sedimentation rate was normal and the C-reactive protein level was 0.31 mg/dL (0–0.3). The results of serologic tests were as follows: serum IgG, 1462 mg/dL (700–1600); IgA, 190.8 mg/dL (70–400); IgM, 106.6 mg/dL (40–230); IgE, 511 IU/mL (0–100 IU/mL). A fluorescent antinuclear antibody test (1:40) was negative, and the rheumatoid arthritis (RA) factor levels were within the normal range. The serum IgG4 level was 69.2 mg/dL (3.9–86.4). Low-dose chest computed tomography and abdominal computed tomography scans were performed. The findings were unremarkable, except for a hepatic cyst. Despite a serum IgG level within the normal range and no involvement of other organs associated with IgG4-RD, we diagnosed the patient with probable IgG4-RD based on comprehensive IgG4-RD diagnostic criteria.An 87-year-old woman presented with a palpable soft tissue mass in the right fifth metacarpophalangeal joint (MPJ) of the right hand that had persisted for 2 months. The mass was painful and rubbery, but there were no local signs of infection or constitutional symptoms, such as fever, weight loss, or malaise. The patient had no history of trauma to the area. The patient had a history of diabetes, hypertension, hypertriglyceridemia, and unstable angina.Plain radiography of the right hand revealed degenerative osteoarthritis with joint space narrowing in the proximal and distal interphalangeal joints of all fingers and focal soft tissue swelling in the MPJ of the little finger. Vascular calcification was also observed in the distal forearm Fig. A.The patient underwent MRI of her right hand Fig. B–F. A 2 An orthopedic surgeon performed an incisional biopsy. The soft-tissue mass was located in the deep layer of the dorsum of the right fourth and fifth MPJ. The mass was an ill-defined, firm nodule.Pathological examination showed collections of epithelioid cells, foreign body type multinuclear giant cells, lymphocytes, and plasma cells Fig. . There wThe patient was started on nonsteroidal anti-inflammatory drugs. After 2 weeks of follow-up, the patient soft tissue swelling subsided. After 7 months of follow-up, no recurrence was observed. Imaging findings for pseudotumorous lesions are similar to those for true soft tissue tumors; therefore, it is important to conduct a comprehensive differential diagnosis, as an accurate diagnosis is essential for the selection of appropriate medical and surgical treatments. A correct diagnosis can often be made through combined consideration of the patient medical history and findings from physical examination, plain radiography, ultrasound, and MRI. Biopsies should be considered only in cases in which the diagnosis remains uncertain.,8 Bilfeld et al described a 3-step diagnostic strategy for assessing masses in the hand and wrist, ruling out pseudotumors as the first step. They described the etiological analyses based on the anatomical location of the mass. Pseudotumors can manifest as synovial, muscular, osseous, vascular, or subcutaneous lesions.Tumor-like lesions presenting as masses in the soft tissues of the hand and wrist can be mistaken for more serious conditions.,8 In a study of 134 patients with hand and wrist swelling, the most common cause was ganglions (26.86%), followed by non-tumor tendon pathology (23.13%), articular diseases (5.97%), and anatomical variants (4.47%). Soft-tissue tumors were found in 25% of patients. These were predominantly benign, with only 3 malignant cases. In a study of indeterminate soft tissue masses of the hand and wrist by Sookur et al, non-neoplastic lesions accounted for only 4 of 39 cases (10%). These include nodular fasciitis, myositis ossificans, granulomatous necrotizing inflammation, and an inflammatory fibrous mass. Soft tissue pseudomasses in the hand can be caused by inflammatory pseudotumors, gout, or RA tenosynovitis. Inflammatory pseudotumors are thought to be an abnormal inflammatory response to infection or trauma; however, their occurrence in the hands and wrists is rare.There are numerous possible diagnoses of tumorlike lesions in the soft tissue. These include anatomical variants such as accessory muscles; cystic lesions such as synovial, ganglion, and tendon sheath cysts; post-traumatic lesions such as myositis ossificans and foreign body granulomas; epidermoid cysts; infectious and inflammatory lesions such as rheumatoid nodules; annular granulomas; crystal diseases such as gout and pseudogout; and amyloidosis.,6Tumors of the hands and wrists are diverse but mostly benign. Soft tissue sarcomas in this location are rare, and MRI is required for tumor characterization. MRI findings suggestive of malignancy include poorly defined margins, neurovascular invasion, peritumoral edema, inhomogeneous signals, and intense heterogeneous enhancement.,7,11–13 However, specific diagnoses can be made for soft tissue tumors of the hand and wrist owing to the high prevalence of benign lesions in this area and characteristic MRI findings. Benign soft-tissue masses that exhibit distinct MRI features include lipomas, ganglia, giant cell tumors of the tendon sheath, arteriovenous malformations, and fibrolipomatous hamartomas.,7 In the absence of distinctive findings, an accurate diagnosis becomes challenging, and malignancy cannot be ruled out.MRI is widely known to have a limited capacity to distinguish between benign and malignant soft tissue tumors.In both cases, the mass had ill-defined margins, perilesional edema, and heterogeneous imaging signals with intense enhancement and appeared to be infiltrating neurovascular structures. Therefore, our MRI results raised suspicion of malignancy. Both patients underwent incisional biopsy, and their final diagnoses were IgG4-RD-induced inflammation in the first case and chronic granulomatous inflammation in the second case.,14–19 Pathological examination is the gold standard for diagnosis.IgG4-RD is a systemic, immune-mediated disease that can cause fibroinflammatory lesions and affect multiple organs and tissues. Elevated serum IgG4 concentrations are often, but not always, observed in patients with IgG4-RD. The disease is characterized by tumor-like swelling of the involved organs and prominent lymphoplasmacytic infiltration, including dense fibrotic IgG4-positive plasma cells arranged in a storiform pattern.,14–19IgG4-RD can affect numerous organs, with the pancreas being the most common organ. Other organs implicated in IgG4RD are the lung, bile duct, kidney, prostate, retroperitoneum, pituitary gland, submandibular gland, lacrimal gland, and thyroid gland..Umehara et al proposed the 2020 revised comprehensive diagnostic criteria for IgG4-RD: involvement of one or more organs, as shown by swelling, mass, or nodules defined clinically or radiographically; Serum IgG4 levels >135 mg/dL; and positivity for 2 of the following 3 criteria: dense lymphocyte and plasma cell infiltration with fibrosis, more than 10 IgG4-positive cells/high-power field, an IgG4-positive/IgG-positive cell ratio >40% on histopathological examination, and storiform fibrosis or obliterative phlebitis. A definite diagnosis of IgG4-RD can be made if all the 3 criteria are met. A diagnosis of probable IgG4-RD can be made if the first and third criteria are met and possible IgG4-RD if the first and second criteria are metBased on these criteria, our first case was diagnosed as a probable IgG4-RD soft tissue pseudotumor because despite the lack of elevation in serum IgG4 levels, there was a high rate of IgG4-positive cells in the tissue.Hamano et al have demonstrated that, as in our case, the pathological findings from a patient biopsy specimen may reveal abundant IgG4-positive plasma cells, even in cases with normal serum IgG4 levels, which can aid in accurate diagnoses. The mass was seen in the thigh of an adolescent patient and showed an infiltrative growth pattern. It extends along the neurovascular bundle in the left iliopsoas muscle and intermuscular space. However, the first case presented herein is the first to report an IgG4-RD soft-tissue mass in a wrist-mimicking malignancy.Musculoskeletal mass formation due to biopsy-proven IgG4-RD is rare. Only 1 case of IgG4-RD as a soft tissue mass has been reported in the literature. In our study, both patients presented with some features of malignancy. In the first case, neurovascular infiltration and adjacent fascial enhancement were observed; in the second case, cutaneous enhancement was seen. Differential diagnosis of such masses considers primary superficial soft tissue sarcoma as the main possibility, but may also include inflammatory pseudotumors, myofibroblastic tumors, localized inflammatory pathology, tuberculosis, fungal infections, RA, and sarcoidosis.–21Infiltrating soft tissue masses of the wrist and hand have a broad spectrum of causes, both benign and malignant. Synovial sarcomas are slow-growing, and calcification is observed in 30% of these lesions. Features may include hemorrhage, fluid-fluid levels, and the “triple sign,” which are areas of high, intermediate, and low SI on T2WI due to the combination of cystic elements (hemorrhage and necrosis) and solid elements. Epithelioid sarcomas are the most common soft tissue malignancies of the hand in young adults, with approximately 60% of cases involving the flexor surfaces of the finger, hand, and wrist. These sarcomas tend to propagate along the fascial planes, nerves, tendons, and areas of chronic inflammation around the tumor periphery, sometimes mimicking infections. Fibroblastic myxoinflammatory sarcomas are low-grade subcutaneous tissue tumors that commonly affect the hands and feet. The myxoid component shows enhancement, and its border may be blurred with comet tail aponeurotic extensions. UPS affects the subcutaneous tissue and is most common in older patients. Dermatofibrosarcoma protuberans are typically soft tissue masses of the skin and subcutaneous adipose tissue with linear extensions along the skin surface. The appearance of myofibroblastic tumors on imaging varies from ill-defined infiltrating lesions to well-circumscribed soft tissue masses containing differing proportions of inflammatory and fibrotic components. A hypointense band or foci on T2WI MRI is generally the fibrous component of the tumor. A linear fascial extension to a soft-tissue mass is believed to be indicative of the infiltrative growth pattern of a tumor and is a common MRI feature of myofibroblastic tumors and malignancies such as myxofibrosarcoma and UPS.Sarcomas have variable appearances, but most manifest as large aggressive masses, with heterogeneous SI on T1 and T2WI owing to areas of necrosis, hemorrhage, and calcification.The analyses of our cases revealed tumorous masses that appeared infiltrative with apparent neurovascular invasion. However, on contrast-enhanced MRI, the neurovascular structures in the enhanced lesions appeared to be intact. This suggests that inflammation is more likely to occur than sarcoma.,23 Thus, as our patients’ lesions were classified as indeterminate, incisional biopsies were performed to allow for accurate diagnoses.Before hand and wrist surgery, soft tissue masses must be classified as determinate or indeterminate lesions. Determinant masses are benign and can be accurately diagnosed using MRI. Indeterminate masses require biopsy for an accurate diagnosis. Indeterminate masses may be either benign or malignant. However, malignant masses can be mistaken for determinate lesions and benign masses can be classified as indeterminate lesions, as in the 2 cases presented in this paper. For indeterminate soft tissue masses with a high probability of malignancy, incisional or imaging-guided biopsies are required.In conclusion, the 2 cases presented here are rare instances of pseudotumors of the hand and wrist that mimicked malignancy on MRI. Our first case was a rare IgG4-RD inflammatory pseudotumor of the wrist. The second case presented with granulomatous hand inflammation with an ill-defined infiltrative appearance of a malignant tumor.Most benign soft tissue masses of the wrist and hand have distinctive MRI features. If a lesion cannot be confidently characterized as a benign entity, it is deemed indeterminate, and a biopsy and histologic analysis should be performed to ensure accurate diagnosis and appropriate treatment.Conceptualization: Yeon Soo Lee.Data curation: Sangeun Park.Supervision: Yeon Soo Lee.Writing – original draft: Jong Ok Kim.Writing – review & editing: Jong Ok Kim, Yeon Soo Lee, Sangeun Park.


PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper limb is extremely rare, accounting only for 0.9%–1% of all congenital anomalies of the upper limb. This report describes a case of congenital, isolated, nonprogressive macrodactyly of the right index finger and thumb, in an adult patient that was treated with debulking surgery. The microscopic features were compatible with lipomatosis of nerve. Due to the prompt and pertinent molecular testing, which identified a somatic PIK3CA variant, c.3140A > G, p.H1047R., the case was classified as a PROS. The availability of mTOR inhibitors offers additional treatment possibilities in cases with progressive disease. This case report highlights the importance of molecular testing to identify PROS, to further the knowledge of this continually expanding entity. PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, classified under rare genetic developmental defect during embryogenesis , 2. PROSA 25-year-old African–American transgender female presented to congenital hand surgery clinic with a congenital enlargement of right index finger and thumb. She denied any numbness, tingling, or altered sensations over the area of deformity. The expansion was static/proportional. Apart from her gender affirming procedure, she did not have any significant past medical or surgical history.On focused physical examination of her right hand, extensive fatty enlargement of the ulnar thumb and radial index finger, extending into the first web space were seen. There was accompanying dorsal hand enlargement as well. The flexion range was diminished in both the involved digits, but sensation to light touch was intact. The left hand and other extremities were normal in appearance, range of motion, and sensations.Non-contrast magnetic resonance imaging of the right hand revealed prominence of the subcutaneous fat surrounding the thumb, within the first webspace and radial aspect of the index finger with enlargement of the median nerve branches within this area of prominent subcutaneous fat. The radiological impression was a median nerve lipomatosis (macrodystrophia lipomatosa) with associated nerve territory overgrowth of the soft tissues in the thumb, first webspace, and radial aspects of the index finger.Extensive debulking of the lipofibromatous hamartoma involving nerves, subcutaneous tissue, and skin was performed and the debrided tissue was sent to pathology . NotablyOn gross examination, the specimen was composed of multiple fragments of yellow lobular adipose tissue, tan-pink soft tissue, and skin. No hemorrhage, necrosis, or discrete masses were identified. Microscopic examination of H&E slides from representative sections revealed unremarkable skin and subcutaneous tissue with benign nerve branches showing expansion of epineurium by adipose tissue and fibrous tissue. The morphological features were compatible with lipomatosis of nerve .The formalin-fixed paraffine-embedded tissue was sent to the molecular pathology lab where sequencing was performed using the Ion AmpliSeq™ Cancer Hotspot Panel v2 on The Ion TorrentT™ Personal Genome Machine™ (PGM) system . The panel tests for 97 known pathogenic variants spread across 11 different amplicons of PIK3CA. A somatic PIK3CA variant, c.3140A > G, p.H1047R, was identified at a variant allele frequency of 21.2% with a read depth of 2668 . SequencPostoperatively, the patient was enrolled in hand therapy to regain full range of motion and functionality. On the basis of her confirmed PROS, she was prescribed alpelisib to address the areas of the hand that could not be debulked at the time of surgery.Macrodactyly, characterized by increased soft tissue and/or bone of one or more digits or parts of the body, is a rare congenital condition with an incidence rate of 0.035% among all musculoskeletal defects , 7. MacrIncidence of macrodactyly has been found to be similar across sex and geographical regions. Multiple digit involvement, as seen in this case, is 2.6 times more frequent than single digit involvement. Commonly involved digits include the thumb the index and middle finger. In 79% cases, the affected digit was in the median nerve distribution and was associated with fatty infiltration and enlargement of the median nerve [et al. [Historically, the pathogenesis of macrodactyly was thought to be related to neurofibromatosis , 12. Thiet al.  reportedPROS is an umbrella term, proposed in 2015, that includes a broad and heterogenous group of rare developmental disorders of embryogenesis which range from segmental overgrowth of limbs to megalencephaly capillary malformation polmicrogyria and CLOVES syndromes , 15. SomWith growing understanding of PROS, the grouping and classification of this group of disorders continues to evolve. Well-described entities such as CLOVES and MCAP represent one end of the spectrum with patients having most of the manifestations . But at The extensive overlap and divergent manifestations along with the emergence of novel phenotypes necessitate a multidisciplinary approach and use of all appropriate screening tools for deep phenotyping in each case . For insThe identification of the PIK3CA gain of function variant has unlocked therapeutic possibilities for use of mTOR inhibitors of the PI3K-Akt-mTOR pathway in order to provide pharmacological treatment not only in cases with progressive disease, but also in non-progressive cases not amenable to debulking .This case report highlights the importance of molecular testing and thorough phenotyping to identify PROS, in an attempt to further the knowledge of this esoteric entity with an expanding clinical spectrum.


Clinical diagnosis of rare aggressive sellar malignancies requires a high index of suspicion. The objective was to report 2 patients with primary sellar atypical teratoid (AT)/rhabdoid tumor (RT) who presented with acute-onset headache and visual symptoms.Patient 1 was a 45-year-old woman who presented with 3 weeks of headache and 1 week of eye pain and diplopia. Magnetic resonance imaging (MRI) identified a 2.2-cm sellar mass. Pituitary hormone testing showed elevated prolactin and suppressed luteinizing hormone, follicle-stimulating hormone, and estradiol levels. Patient 2 was a 32-year-old woman who presented with 1 month of headache and 1 week of diplopia. MRI showed a 2.1-cm sellar mass. Hormonal test results were reportedly unremarkable. Both patients did not have a significant medical history. They each underwent transsphenoidal resection. Surgical histology and molecular studies were consistent with primary sellar AT/RT. After surgery, patient 1 developed bilateral blindness and was lost to follow-up. Patient 2 developed hypopituitarism; her visual symptoms improved temporarily but recurred 2 weeks later. Pituitary MRI showed sellar recurrence. She underwent further debulking, but the tumor recurred promptly again. Despite radiation therapy, she died 4 months after the original presentation.AT/RT appears to be the most aggressive sellar malignancy.Based on the 2 cases presented and the literature, I conclude that rapidly progressive headache with subsequent visual impairment in women with large sellar masses is almost pathognomonic of sellar AT/RT. Severe right-sided headache and eye pain had started abruptly. She went to an outside hospital, where she was diagnosed with cranial nerve palsy and prescribed with corticosteroids and antivirals. Her symptoms did not improve with the treatment, and she developed binocular oblique diplopia. She then saw a neurologist by telehealth, who advised her to go to the emergency room of our tertiary center. The patient had no significant medical history. Physical examination showed binocular diplopia, which improved with left head tilt. Brain magnetic resonance imaging (MRI) identified an enhancing 16 mm × 15 mm partly sellar and partly suprasellar mass. Pituitary MRI on the same day of the brain MRI confirmed the mass, which measured 19 mm × 22 mm × 18 mm, extending from the sella to the suprasellar cistern and invading the right cavernous sinus . She wasAfter surgery, the patient developed transient diabetes insipidus and persistent bilateral blindness, which did not respond to high-dose corticosteroid. Chemotherapy and radiation therapy were planned but postponed by the patient as she was overwhelmed by the rapid deterioration of her health. She was then lost to follow-up.Patient 2 was a 32-year-old woman with a recent diagnosis of AT/RT who transferred her care to our tertiary center. Four weeks before the transfer, she had presented with 1 month of severe headache and 1 week of diplopia to an outside hospital. MRI reportedly showed a 2.1-cm enhancing partly sellar and partly suprasellar mass. She was initially diagnosed with pituitary macroadenoma. Hormonal test results were reportedly unremarkable. She underwent transsphenoidal tumor resection at the outside hospital. Near total resection of the mass was achieved. Histologic examination of surgical specimens showed a densely cellular neoplasm composed of cells with round nuclei and prominent nucleoli and very high nuclear-to-cytoplasmic ratios. Mitotic activity was high with a Ki-67 labeling index of >80%. Immunostain revealed SMARCB1 deficiency (loss of INI1 expression). Methylation-based tumor profiling results were consistent with AT/RT, MYC subgroup, WHO grade 4. After surgery, her headache and visual symptoms improved temporarily, and she reportedly developed adrenal insufficiency and hypothyroidism and began treatment with corticosteroid and levothyroxine. Two weeks after surgery, headache recurred and she developed progressive bilateral vision loss. She was asked by the outside hospital to transfer her care to our tertiary center.At our tertiary center, she was referred to endocrinology. She had no significant medical history. Physical examination showed right-sided peripheral vision loss and left-sided blurry vision. Pituitary MRI showed postsurgical changes and a lobulated partly sellar and partly suprasellar enhancing mass measuring 24 mm × 14 mm × 16 mm . Hormona,,,,,Two patients with primary sellar AT/RT are reported who presented with acute-onset headache and visual symptoms. Sellar compression symptoms are caused by the expansion of sellar content , which impinges on the surrounding structures, such as the cavernous sinus and optic chiasm.,SMARCB1 gene) or BRG1 protein (SMARCA4 gene) can be used as a molecular marker of AT/RT, but these 2 markers are not uniquely specific for AT/RT.,,,AT/RT is a very aggressive and poorly differentiated central nervous system malignancy. Most AT/RT cases occur in children, but AT/RT can affect adults, and the most common affected site in adults is the sella.These 2 cases demonstrate that acute-onset headache and visual changes are highly suggestive of an aggressive sellar lesion. Specifically, rapidly progressive headache with subsequent visual impairment in female patients with a large sellar mass that becomes intolerable to patients after approximately 1 month and 1 week, respectively, is possibly pathognomonic of sellar AT/RT.The author has no multiplicity of interest to disclose.