Inferior vena cava leiomyosarcomas are rare tumors that account for less than 0.7% of all retroperitoneal leiomyosarcomas. They are more common in women and cause nonspecific chronic abdominal pain. In this report, we present the case of a 53-year-old female patient complaining of chronic nonspecific periumbilical abdominal pain with initial onset 8 months previously who was diagnosed with inferior vena cava leiomyosarcoma by computed tomography angiography. The patient was treated with complete resection of the tumor and reconstruction of the inferior vena cava with interposition of a Dacron prosthetic graft. The treatment considered the gold standard consists of complete surgical excision, because these tumors are resistant to chemotherapy and radiotherapy. The prognosis of these patients is closely related to early diagnosis. Therefore, it is very important that vascular and general surgeons know that this disease is a possible differential diagnosis of chronic abdominal pains. She had made multiple visits to an Urgent Care Center because of continuous abdominal pains in the periumbilical area, irradiating to the dorsal aspect, with onset 8 months previously, and associated with abdominal distension and weight loss of 3 kg over the period, but without nausea or vomiting. She reported being seen at the general surgery clinic and having laboratory tests and imaging exams for diagnostic investigation, but at presentation had not been diagnosed definitively. She sought care at the Urgent Care Center because of the extreme intensity of her abdominal pains, which were refractory to analgesics prescribed for home use. Physical examination found her abdomen rounded, slightly distended, tympanic to percussion, and painful on superficial and deep palpation in the periumbilical region and flanks, without visceromegaly or signs of peritoneal irritation. The remainder of the examination was unremarkable. The tests and examinations performed previously were as follows: ultrasound of the entire abdomen, performed 8 months previously, showing a nodule in the region between the aorta and cava measuring 40 x 24 mm, suggestive of lymphadenomegaly; computed tomography without contrast, performed 15 days earlier, showing calcifed granuloma in liver segment IV, with no other abnormalities; and colonoscopy and upper digestive endoscopy, with no findings that would explain the patient’s condition.Computed tomography with contrast was ordered, showing a mass with lobulated outlines and heterogeneous density and intravenous contrast uptake in the retroperitoneal region between the aorta and cava. After admission, computed tomography angiography (CTA) and magnetic resonance of the abdomen and pelvis were performed, both showing an expansive lesion embedded in the IVC, with an anterior exophytic component, with focal cold areas suggestive of necrosis, with no contact with kidneys or adrenal glands, displacing the duodenum anteriorly, and measuring 93 x 54 x 36 mm . The cranial portion was completely intraluminal and at the level at which the renal veins drain to the IVC, while the caudal portion was extraluminal and extended to the level of the aortic bifurcation, which was suggestive of a leiomyosarcoma of the IVC .A joint vascular surgery and general surgery team performed a surgical procedure via transabdominal access. The IVC mass was identified, starting below the outflow of the left renal vein, with a length of approximately 8 cm, ending above the bifurcation of the common iliac veins, but without invading the infrarenal abdominal aorta. The team proceeded to dissection, removing the retroperitoneal tumor en bloc by complete circumferential resection of the IVC section containing it and then reconstructed the IVC by interposition of a 24 mm tubular prosthetic Dacron graft, with proximal anastomosis, including the renal vein and proximal IVC, and distal anastomosis, including the distal IVC . Postope-Retroperitoneal leiomyosarcomas are rare tumors that account for less than 5% of all connective tissue tumors. Leiomyosarcomas originating in vascular tissue are even rarer, accounting for around 0.7% of cases. They originate in the smooth muscle cells of the tunica media of the vessel wall, the vascular structure they most often involve is the IVC, and they are more common among women over the age of 50.3,3,4,Classically, as described in our case report, these tumors are diagnosed late, because they occupy the retroperitoneal space and thus take a long time to provoke symptoms. When symptoms do emerge, they generally manifest through nonspecific conditions provoked by compression of adjacent structures, which can cause pain with uncertain location, making diagnosis more difficult.3,5,Symptoms vary depending on the anatomic region involved, so these leiomyosarcomas can be classified into three types. The first is when the infrarenal portion of the IVC is involved (type I), as in the case reported here, and accounts for 36% of cases. In these cases, clinical presentation is through edema of the lower limbs, deep venous thrombosis, and abdominal pain and distension. The second type, accounting for approximately 44% of cases, encompasses cases in which the tumor develops between the outflow of the renal vein and the hepatic vein (type II) and tends to involve impairment of renal function with nephrotic syndrome and abdominal pains. Finally, tumors that develop above the emergence of the hepatic vein (type III) are the rarest, accounting for only 20% of cases, and clinical presentation may include pulmonary thromboembolism (PTE) and Budd-Chiari syndrome, with hepatomegaly, ascites, and/or jaundice.3,Nowadays, as imaging exam technology has improved, these tumors are diagnosed earlier and, as a consequence, may be treated with the prospect of achieving a cure. Nevertheless, metastases can still occur, with predominantly hematogenic dissemination, primarily involving the lungs, liver, and bones.3,The examinations used for diagnosis are CTA, magnetic resonance angiography, and venography of the cava. In addition to diagnosis, the first two examinations also reveal invasion of adjacent structures by the tumor and its extension and location, enabling preoperative planning.5,6,The gold standard treatment is complete surgical excision, since these tumors are resistant to both chemotherapy and radiotherapy. Prognosis is directly related to sufficient resection with disease-free margins, both macroscopically and microscopically,5,Countless different surgical strategies can be employed, depending on the location and size of the tumor. Total circumferential resection of the IVC should be preferred whenever possible, performing reconstruction with polytetrafluoroethylene (PTFE) or Dacron grafts – there is no consensus in the literature on the best type of synthetic graft material.5,Ligature of the IVC without reconstruction can be considered in around 20% of cases of infrarenal leiomyosarcoma, when there is a rich network of collaterals to guarantee maintenance of venous return.5,Another situation that can present a surgical challenge is involvement of the right renal vein by the tumor. When it must be removed surgically and there is no possibility of reconstruction, a right nephrectomy should be considered. Simple ligature of the vein is not considered safe because of the associated risk of congestion and kidney failure. In general, the left renal vein is longer and has more collaterals to ensure venous return, and so ligature still permits preservation of the left kidney. However, whenever possible, reconstruction with a prosthetic IVC graft is recommended, with reimplantation of the renal vein by end-to-end anastomosis.5,8,Chemotherapy and radiotherapy are controversial for treatment of IVC leiomyosarcomas, because these tumors are usually resistant to both treatments, so they are generally only used in metastatic cases without indications for surgical treatment. However, few favorable results are observed, without impact on long term patient survival or reduction of local recurrence.7The prognosis of patients with IVC leiomyosarcoma is completely dependent on the size of the tumor at diagnosis. Obviously, factors such as metastases worsen prognosis, as do compromised margins after surgical resection.Since the prognosis of these patients is intimately related with early diagnosis, it is extremely important that vascular surgeons and general surgeons know about this disease when conducting differential diagnosis of chronic and nonspecific abdominal pains. ,2,O leiomiossarcoma de veia cava inferior (VCI) é um tumor retroperitoneal com origem nas células musculares lisas da camada média da parede da veia cava, podendo ter crescimento intraluminal, extraluminal ou combinado1O presente artigo foi aprovado pelo Comitê de Ética em Pesquisa, sob o parecer consubstanciado n.º 4.742.968 (CAAE 45143321.5.0000.0099).Tratava-se de uma paciente do sexo feminino, com 53 anos de idade, portadora de hipertensão arterial sistêmica, em uso de enalapril 10 mg/dia e tabagista (40 maços/ano). Ela apresentava história de múltiplas consultas em pronto atendimento devido à dor abdominal contínua, com início há 8 meses, de localização periumbilical, irradiada para dorso, associada a distensão abdominal e perda ponderal de 3 kg no período, sem náuseas ou vômitos. Relatava acompanhamento médico em ambulatório de cirurgia geral, com realização de exames complementares para elucidação diagnóstica, mas, até então, sem diagnóstico definido. A paciente procurou serviço de pronto atendimento devido à grande intensidade da dor abdominal, refratária a analgesia prescrita para uso domiciliar. No exame físico, evidenciou-se abdome globoso, pouco distendido e timpânico à percussão, doloroso à palpação superficial e profunda em região periumbilical e flancos, sem visceromegalias ou sinais de irritação peritoneal. O restante do exame não apresentou alterações dignas de nota. Os exames complementares prévios foram os seguintes: ultrassom de abdome total, realizado 8 meses antes, demonstrando presença de nódulo na região interaortocaval medindo 40 × 24 mm, sugestivo de linfonodomegalia; tomografia computadorizada sem contraste, realizada 15 dias antes, com presença de granuloma calcificado no segmento hepático IV, sem demais alterações; e colonoscopia e endoscopia digestiva alta, sem alterações que justificassem o quadro.Foi solicitada tomografia computadorizada com contraste, que evidenciou massa de contornos lobulados com densidade e realce heterogêneo pelo meio de contraste endovenoso, localizado na região retroperitoneal interaortocaval. Após internamento, foi solicitada angiotomografia computadorizada (ATC) e ressonância magnética de abdome e pelve, ambas mostrando presença de lesão expansiva embutida na VCI, com componente exofítico anterior, com focos hipocaptantes sugestivos de necrose, sem contato com rins e adrenais, deslocando duodeno anteriormente, medindo 93 × 54 × 36 mm . A porção mais cranial era completamente intraluminal e ao nível da desembocadura das veias renais, e a porção mais caudal era extraluminal e se estendia até o nível da bifurcação aórtica, o que sugeria leiomiossarcoma de VCI .Foi realizada abordagem cirúrgica conjunta da cirurgia vascular e cirurgia geral, através de acesso transabdominal. Identificou-se presença de massa em VCI, iniciando-se abaixo da desembocadura da veia renal esquerda, com extensão por aproximadamente 8 cm, terminando acima da bifurcação das veias ilíacas comuns, sem invasão da aorta abdominal infrarrenal. Foi realizada a dissecção, com retirada em bloco do tumor retroperitoneal através de ressecção circunferencial completa da VCI contendo a massa, e feita a reconstrução da VCI através da interposição de prótese de dácron tubular de 24 mm, com anastomose proximal, incluindo a veia renal e a VCI proximal, e anastomose distal, incluindo a VCI distal . O pós-o-Os leiomiossarcomas retroperitoneais são tumores raros que correspondem a menos de 5% de todos os tumores de tecido conjuntivo. Os leiomiossarcomas com origem em tecido vascular são ainda mais raros, representando cerca de 0,7% dos casos. Eles têm origem nas células musculares lisas da camada média da parede do vaso, sendo a VCI a estrutura vascular mais acometida, e são mais frequentes em mulheres após os 50 anos3,3,4,Classicamente, conforme apresentado em nosso relato de caso, são tumores de diagnóstico tardio justamente pelo fato de acometerem o retroperitônio, levando períodos prolongados de tempo para gerar sintomas. Quando se iniciam os sintomas, em geral, manifestam-se por meio de quadros inespecíficos pela compressão de estruturas adjacentes, o que pode causar dor de localização inespecífica e dificultar o diagnóstico3,5,Os sintomas variam conforme a área anatômica acometida, o que permite a classificação do leiomiossarcoma em três tipos. O primeiro é quando há acometimento da porção infrarrenal da VCI (tipo I), como na situação relatada, que corresponde a 36% dos casos. Nesse caso, o quadro clínico manifesta-se através de edema de membros inferiores, trombose venosa profunda, dor e distensão abdominal. O segundo tipo ocorre quando o tumor se desenvolve entre a desembocadura da veia renal e veia hepática (tipo II), aproximadamente 44% dos casos, e tende a ocorrer comprometimento da função renal com ocorrência de síndrome nefrótica e também dor abdominal. Por fim, a lesão que cresce acima da emergência da veia hepática (tipo III), a mais rara, representa apenas 20% dos casos; nesse caso, a clínica pode ser de tromboembolismo pulmonar (TEP) e síndrome de Budd-Chiari, associando hepatomegalia, ascite e icterícia3,Atualmente, com o avanço tecnológico dos métodos complementares de imagem, esses tumores têm sido mais diagnosticados e, consequentemente, tratados com intenção curativa. Ainda assim, metástases podem ocorrer, com disseminação prioritariamente hematogênica, acometendo principalmente pulmão, fígado e ossos3,Os exames usados para diagnóstico consistem em ATC, angiorressonância magnética e venografia de cava. Além do diagnóstico, os dois primeiros exames permitem a determinação de invasão de estruturas adjacentes, extensão e localização do tumor, permitindo o planejamento pré-operatório5,6,O tratamento considerado padrão-ouro consiste na excisão cirúrgica completa, dado que esses tumores são resistentes a quimioterapia e radioterapia. O prognóstico está diretamente relacionado com a ressecção ampla com bordas macroscópicas e microscópicas livres de doença5,Inúmeras estratégias cirúrgicas podem ser empregadas, a depender da localização e extensão tumoral. Deve ser priorizada, sempre que possível, a ressecção circunferencial total da VCI com reconstrução com prótese de politetrafluoretileno (PTFE) ou dácron – não há consenso na literatura sobre o melhor tipo de enxerto sintético a ser usado5,A ligadura sem reconstrução da VCI pode ser considerada em cerca de 20% dos casos de leiomiossarcoma infrarrenal, quando há presença de extensa rede de colaterais que garantem a manutenção do retorno venoso5,Outra situação que pode representar um desafio cirúrgico consiste no envolvimento da veia renal direita pelo tumor. Quando ela precisa ser removida cirurgicamente e não há possibilidade de reconstrução, deve ser considerada a nefrectomia direita associada. Não é considerada segura a simples ligadura da veia, pelo risco de congestão e falência renal associada. Em geral, a veia renal esquerda é mais longa e tem mais colaterais que garantem o retorno venoso, e, por isso, sua ligadura permite a preservação do rim esquerdo. Entretanto, sempre que possível, recomenda-se a reconstrução com prótese da VCI, com reimplante da veia renal com anastomose terminoterminal5,8,A quimioterapia e a radioterapia são temas controversos no tratamento dos leiomiossarcomas de VCI, porque esses tumores usualmente são resistentes a ambas terapias, sendo aplicadas apenas em casos metastáticos sem indicação de tratamento cirúrgico. Porém, poucos resultados favoráveis foram encontrados, sem impacto na sobrevida dos pacientes em longo prazo ou redução de recorrência local7O prognóstico de pacientes com leiomiossarcoma de VCI é completamente dependente da extensão do tumor no diagnóstico. Claramente, fatores como metástases comprometem o prognóstico, bem como margens comprometidas após ressecção cirúrgicaUma vez que o prognóstico desses pacientes está intimamente relacionado com a precocidade do diagnóstico, é de grande relevância o conhecimento dessa doença no diagnóstico diferencial de dor abdominal crônica e inespecífica por cirurgiões vasculares e cirurgiões gerais.


We present a unique case of a 6 cm, incidental, ureteral myopericytoma which was initially believed to be an ovarian tumor with mass effect, causing hydroureteronephrosis. A 75-year-old woman presented with a three-month history of postprandial cramps and heartburn. A right distal ureterectomy with en-bloc resection of the mass was performed.Histologically, a well-circumscribed, cellular proliferation of uniform, cytologically bland, spindle cells was identified that had a multilayered, concentric growth pattern around numerous blood vessels. Immunohistochemically, the spindle lesional cells stained strongly and diffusely with antibodies against smooth muscle actin and failed to stain for pancytokeratin and S100 protein. She underwent a computed tomography scan of her abdomen and pelvis, which revealed an incidental, 6.7 × 5.8 × 5.3 cm, enhancing pelvic mass thought to be originating from the right ovary, with associated right-sided severe hydronephrosis and a dilated tortuous right ureter . There w3We present a unique case of a 6 cm, incidental, ureteral myopericytoma which was initially believed to be an ovarian tumor. To our knowledge this is the first case report of a primary myopericytoma originating from the ureter.Myopericytomas have a well-defined immunohistochemical staining pattern in that they are positive for vimentin, smooth muscle actin, and caldesmon, but negative or only focally positive for desmin and CD34. Our case stained identically to the 6 renal myopericytomas described by Li et al.Most patients with myopericytomas involving the urinary tract are asymptomatic. The reported cases involving the kidney usually presented as an asymptomatic solitary renal mass. The patients had a mean age of 46 (range 17–76 years). The urinary tract myopericytomas ranged in size from 1.7 cm to 11.0cm.4Myopericytomas are benign, slow-growing, perivascular tumors that are mostly found in the skin and subcutaneous tissues. There are limited case reports of this tumor in the urinary tract, primarily in the kidneys. Because this tumor presents with very few symptoms, a high level of suspicion is needed to consider this entity in the differential diagnosis for vascular lesions found on imaging of the genitourinary tract. To the best of our knowledge, no recurrences or metastases of myopericytomas originating from the urinary tract have been reported.


Chest wall lymphatic malformations are rare and can pose a diagnostic dilemma, particularly if they present abruptly. This case report describes a 15-month-old male toddler presenting with a left lateral chest mass. Histopathology of the surgically excised mass confirmed the diagnosis of a macrocystic lymphatic malformation. Furthermore, there was no recurrence of the lesion in the two-year follow-up period. In children, palpable chest wall masses occur due to variable underlying pathologies, including congenital malformations, infections, and benign and malignant tumours. A biopsy and histopathological examination aid in the definitive diagnosis.Lymphatic malformations (LMs) are vascular anomalies composed of abnormal, dilated lymphatic channels caused by aberrant development. According to the updated classification of the International Society for the Study of Vascular Anomalies (ISSVA), LMs are considered low-flow, simple vascular malformations . The comA 15-month-old, previously well, male toddler presented to the general paediatric clinic with a rounded mass involving the left lateral chest wall noticed over the last two weeks. The mass was first noticed by his mother during bedtime while changing him into his sleepwear. It seems to have appeared suddenly, with no history of previous trauma or recent infections. Additionally, while the mass did not seem to cause pain, there was discomfort, especially when in close contact with clothing. Although the size of the mass did not change since its appearance, the overlying skin developed a red/blue hue over the next few days after its appearance. There was no history of other similar masses in the patient or his family.On examination, there was a single, oval-shaped mass measuring around 6 × 4 × 2 cm located on the left lateral chest wall a,b. The Basic laboratory investigations, including a complete blood count with a differential count, were normal. Chest radiography revealed a mass-like opacity in the left lateral chest wall . An ultrThe preliminary diagnosis was that of a lymphatic malformation, and the patient was referred to a tertiary hospital for further management. A thorough discussion of three different treatment modalities, namely expectant management, sclerotherapy, and surgery was had with the family. Although the lesion was small, well-localised, and not impinging on vital structures, expectant management was dismissed as the pre-verbal patient seemed preoccupied with the mass, persistently pulling on the lesion, and voicing sounds suggestive of discomfort. As for sclerotherapy, the patient would require sedation and possibly general anaesthesia. Furthermore, repeat sclerotherapy might be warranted in the event of incomplete resolution. Based on imaging, total resection of the mass was likely feasible. To that end, possible complications with surgery and the remote risk of recurrence were explained in detail. Upon further discussion, the parents shared their preoccupation with a diagnosis of a malignant mass. Conclusively, a decision for surgery was made. In the operating room and under general anaesthesia, an incision was made over the lesion. Circumferential dissection was made using both blunt and sharp dissection. The lesion was found to be attached to the fascia of the underlying latissimus dorsi and overlying skin. The fascia of the muscle was excised, and the skin was trimmed. The subcutaneous tissue was approximated, and the wound was closed using absorbable sutures. Finally, surgical tape strips and a pressure dressing were applied. The patient tolerated the procedure well, with no postoperative complications. The postoperative histopathology report described dilated lymphatic channels lined by endothelial cells. Histopathology was compatible with a diagnosis of a macrocystic lymphatic malformation. The patient has had no recurrence of the lesion in the two years of follow-up post-excision a,b.The International Society for the Study of Vascular Anomalies (ISSVA) has classified vascular anomalies into five broad categories: vascular tumours, simple vascular malformations, combined vascular malformations, anomalies of major named vessels, and vascular malformations associated with other anomalies . This clSimple vascular malformations are mostly composed of one vessel type, such as veins, lymphatics, or capillaries. An exception is arteriovenous malformations, which are composed of several vessel types  and the non-acquired arteriovenous fistula. Simple vascular malformations are subdivided according to the velocity of the flow. Low-flow lesions include venous malformations, lymphatic malformations, and capillary malformations. On the other hand, high-flow lesions include arteriovenous malformations and non-acquired arteriovenous fistulae. Collectively, they occur during morphogenesis, and unlike vascular tumours, the turnover of the endothelium is normal.Lymphatic malformations (LMs) are low-flow lesions comprised of dilated lymphatic cysts or channels. They can occur in isolation or be combined with other vessel malformations. Failure of the lymphatic system to separate from, or connect with, the venous system during embryogenesis is thought to be central to their pathogenesis . RecentlThe common or cystic lymphatic malformations (cLMs) are classified according to cyst size: macrocystic, microcystic, or mixed. However, there is no definite consensus regarding the defining size of the cysts . Some clCollectively, cLMs comprise a group of rare, non-malignant diseases. Their prevalence is variable but is approximated at around 1 in 4000 live births with equal sex distribution . They prThe treatment of LMs warrants a multidisciplinary approach. The choice of treatment and its urgency are individualised and depend on many factors, including the size of the lesion, its location, the presence of symptoms or functional impairment(s), available resources, the level of expertise, and patient preference. Expectant management is an option. Spontaneous regression is more likely to occur in cLMs with fewer than five septations, particularly in the posterior neck region ,16. MediIn this report, we have presented a case of a macrocystic lymphatic malformation presenting peculiarly. The abrupt appearance of a left lateral chest wall in this toddler with no history of trauma or previous infection has presented a diagnostic dilemma to the primary healthcare provider. This has further increased parental anxiety. The simple bedside examination procedure as well as the typical findings on USS and CT were sufficient to make a preliminary diagnosis of lymphatic malformation. After discussing the advantages and disadvantages of the different treatment modalities, the choice of a complete surgical excision was made. The patient has had no recurrence in the two-year follow-up period; nevertheless, a longer follow-up is warranted as recurrence has been reported 20 years post-surgical excision . LymphatChest wall palpable masses encompass a variety of pathologies, including congenital malformations, infections, and benign and malignant tumours. Congenital causes should be kept in mind even with the sudden appearance of a mass, as trauma or infections can herald their appearance. Macrocystic LMs are one of these differential diagnoses. Newer treatment modalities have been used to manage LMs. Surgical excision is still a valid treatment option. However, recurrence is a possibility, especially after incomplete resection .


Large solitary cystic lesions are a rare finding, and their differential diagnosis includes cystic airspaces associated with lung cancer, congenital pulmonary airway malformations and pneumatoceles. Here, we report 3 consecutive patients who presented with a large solitary pulmonary cyst on chest computed tomography. All underwent surgical resection, and the histopathological findings were different in all 3 cases. In one patient, a very rare finding of squamous cell carcinoma arising from the cystic lesion in the left lower lobe was confirmed. Therefore, in carefully selected cases, pulmonary cysts should be resected based on the potential risk for recurrent infection and the development of malignancy. Pulmonary cysts are thin-walled (<4 mm) gas or fluid-filled structures within the lung parenchyma. Pulmonary cysts are thin-walled (<4 mm) gas or fluid-filled structures within the lung parenchyma. Differential diagnosis is based on the cyst’s size, inner wall contour, contents, distribution and clinical presentation. Most patients with pulmonary cysts are asymptomatic, but common clinical symptoms are cough, recurrent pneumonia, dyspnoea and spontaneous pneumothorax . A retroHere, we present 3 consecutive patients diagnosed with a large solitary pulmonary cyst and discuss the difficulties in reaching a differential diagnosis based on their histopathological findings.A 47-year-old female presented to our outpatient clinic with a large pulmonary cyst in the left lower lobe but no symptoms. The patient’s medical history was unremarkable except a moderate smoking history (20 pack-years). Contrast-enhanced chest CT showed a 5-cm diameter, thin-walled air-filled cyst in the left lower lobe Fig. A.After interdisciplinary discussion between the thoracic surgeon, pulmonologists and radiologists, surgical resection of the cyst was offered to the patient, who insisted on a surgical procedure. Left posterior muscle-sparing thoracotomy was performed in the auscultatory triangle  without dividing any of the major chest wall muscles, and appropriate mobilization of the muscles allowed full access. Intraoperatively, the cyst was opened, revealing suspicious atypical nodular changes. A frozen section revealed squamous cell carcinoma Fig. A. Therefin situ with focal minimal ongoing stromal invasion pT1a, arising in a wide-ranging bronchiectasia, was diagnosed.Macroscopic inspection of the resected lobe revealed a 4-cm diameter cyst at the base of the lobe. The periphery of this area contained polycyclic ridge-like tissue masses. Histology revealed extensive bronchiectatic lung tissue; the extended sack-shaped bronchial structures were lined by atypical squamous epithelium with focal stromal invasion Fig. B. Thus, The postoperative course was uneventful, and the patient has been regularly followed up for 391 days without evidence of cancer relapse.A 49-year-old male was diagnosed with a slowly growing cyst in the right lower lobe. The cyst was followed with regular CT scans over 6 months Fig. B. The paThe patient underwent a right-sided video-assisted thoracoscopic surgery procedure but, due to difficulties with multiple adhesions and the risk of postoperative bleeding and complications from his comorbidities, fast conversion to anterior muscle-sparing thoracotomy was considered. Wedge resection of the cystic formation of the right lower lobe was performed. The frozen section revealed a benign cystic process, and no further surgical resection was needed.Histology revealed non-necrotizing granulomatous interstitial pneumonia with foreign body reaction and bronchitis. The postoperative course was unremarkable; the patient was discharged on the fourth postoperative day, requiring no further treatment.A 25-year-old female presented with recurrent right-sided pneumothorax previously treated twice with a chest tube, fully expanding the lung. Her remaining medical history was unremarkable.Chest CT showed a 5-cm diameter, thin-walled pulmonary cyst in the right lower lobe Fig. C. Due toThe postoperative course was uneventful and the patient was discharged on the fifth postoperative day with a fully expanded lung. No further treatment was required.We described 3 consecutive cases that exemplify the difficulties in achieving a differential diagnosis for large solitary pulmonary cysts.Case 1 represented a very rare finding of squamous cell carcinoma arising from an extensive thin-walled pulmonary cyst in an asymptomatic patient. The differential diagnosis in this particular case included CPAM 1, pneumatocele, giant bulla , pulmonary sequestration and congenital lobar emphysema. Due to the size of the cyst, absence of lung infection and presence of healthy surrounding parenchyma, pneumatocele was excluded. Considering the potential malignant transformation of CPAM 1 and risk of infection, surgical resection was a therapeutic option.Case 2 was a patient with non-necrotizing granulomatous interstitial pneumonia. Granulomatous lung diseases are common pulmonary abnormalities with variable clinical manifestations; diagnosis is based on clinical and radiological findings. Typical causes of necrotizing granulomas are fungal or parasitic infections. However, non-necrotizing granulomas of sarcoidosis are described as discrete, well-formed and interstitial. In cases of aspiration or intravenous drug use, peribronchiolar or perivascular distribution of foreign material and non-necrotizing granuloma should be considered . ConsideCase 3 was a young patient with recurrent right-sided pneumothorax and a pulmonary thin-walled cyst in the right lower lobe on CT. The cyst was revealed to be CPAM 2, a rare cystic anomaly occurring during foetal development with a risk of recurrent infections. Surgical resection of asymptomatic cysts remains controversial, but the decision for surgical resection was based on the recurrent pneumothorax.In the final pathology of all 3 cases, the size of the lesion always measured smaller than on the CT scan, probably due to the known shrinkage effect of formalin fixation and histological processing. Pulmonary cysts occur frequently and the incidence is increasing in asymptomatic individuals >40 years old and could be part of the ageing process .In conclusion, we described 3 different clinical scenarios and surgical interventions for asymptomatic pulmonary cysts with difficult differential diagnoses. The remaining question for pulmonary cysts is whether surgical resection is indicated in asymptomatic patients. Careful selection considering the risks and benefits is crucial.Conflict of interest: none declared. Interactive CardioVascular and Thoracic Surgery thanks Paola Ciriaco and the other anonymous reviewers for their contribution to the peer review process of this article.


Pediatric chordomas are rarely described in the literature with most cases being managed surgically followed by adjuvant radiotherapy for local control. We present a case of an 18-year-old female with thoracic chordoma causing significant mass effect resulting in tracheal deviation, esophageal compression, and splaying of the great vessels. Ultrasound-guided anterior left transcervical percutaneous biopsy of the neck with surgical pathology immunohistochemistry confirmed the presence of chordoma. The patient underwent extensive palliative debulking followed by radiation therapy leading to clinical improvement. This case demonstrated that an ultrasound-guided percutaneous biopsy is an essential procedure in the diagnosis and treatment of chordoma, which led to successful treatment when followed by surgery and radiation. Chordomas are rare locally invasive malignant tumors arising from notochord remnants that are even rarer in the pediatric population An 18-year-old female, with history of asthma, presented to the emergency department for progressively worsening shortness of breath and dysphagia. The patient's symptoms began approximately 18 months prior to presentation initially with intermittent mild shortness of breath that slowly progressed. Her pediatrician ordered a chest radiograph that demonstrated the presence of a small mediastinal mass. A follow-up radiograph reportedly showed resolution of the mass a year before her current presentation. The patient followed up with cardiology with a reportedly normal EKG and echocardiogram. Because her symptoms persisted, she was referred to a pulmonologist and subsequently diagnosed with moderate-persistent asthma and prescribed inhaled corticosteroids and albuterol. A computed tomography (CT) chest was also recommended to evaluate for the mediastinal mass but was never obtained. The patient's symptoms continued to worsen, and she experienced chest pain and dyspnea with exertion, dysphagia to solids and liquids, and intermittent left arm numbness. A repeat chest radiograph just before the current presentation demonstrated interval enlargement of the anterior mediastinal mass, and the patient was referred to the emergency department for further evaluation.Chest radiographs in the emergency department demonstrated a large superior mediastinal mass with significant rightward deviation of the trachea . A CT chInterventional Radiology was consulted for percutaneous biopsy. An ultrasound-guided anterior left transcervical neck approach biopsy with a 17-gauge introducer needle and an 18-gauge core biopsy needle was performed with cytology present; 8 cores were obtained . SurgicaThe patient underwent extensive palliative debulking operation with pediatric surgery, cardiothoracic surgery, and orthopedic surgery in an inherently high-risk surgery in this patient due to the location of the lesion and because the airway was 90% collapsed. At surgery, primary median sternotomy was performed, and the mediastinal mass was found to originate from above the aortic arch and extended up to the base of the neck. There was compression of the trachea and esophagus with rightward deviation and splayed the takeoff of the great vessels. The lesion was carefully dissected off the innominate vein, innominate artery, thyroid, trachea, esophagus, left carotid artery, left internal jugular, aortic arch, and cervicothoracic spine. Small remnants remained on the esophagus due to concern of mucosal rent. The patient tolerated the surgery well and recovered in the cardiothoracic ICU. Surgical pathology also demonstrated an area of focal invasion through a fragment of cortical bone of a vertebral body. The remainder of her stay was complicated by chylothorax, right ulnar nerve neuritis, and vocal cord palsy. She was followed outpatient for radiation therapy.Chordomas are rare, slow-growing malignant bone tumors of notochord origin or ectopic notochordal rests with an incidence of 0.08 per 100,000 persons. They have a high local recurrence and have a peak incidence between 50 and 60 years of age. Additionally, they predominate in adult men compared to women The typical appearance of a chordoma on radiography depends on its location. In radiography, intraosseous chordomas will appear as a destructive lytic mass of the sacrum or arising from a vertebral body if spinal and may enlarge the neural foramina. They may have internal calcification depending on the degree of matrix present, but this is more common in the clival chondroma. There is often an associated soft tissue mass in the prevertebral location, but it may extend into the epidural space. On CT and magnetic resonance imaging, chordomas will be a centrally located, destructive lytic lesion with an expansile soft tissue mass which may have internal necrosis, will be intermediate to low signal on T1, very high signal on T2, and demonstrate moderate to marked enhancement depending on the degree of internal necrosis/hemorrhage ,5. ExtraA posterior mediastinal mass in a child has a broad differential. Due to the presence of many tissue elements, neurogenic tumors, neurogenic, bronchial, and foregut cysts, lymphadenopathy, and extramedullary hematopoiesis are considerations. Again, chordomas in the thoracic region are quite rare and, in a patient under the age of 40, are even rarer Typical management of a chordoma is surgical, with the entire tumor, including its capsule, being excised. Adjuvant radiotherapy is recommended in most cases as it is shown to improve local control. However, due to chordomas' sensitive location and surrounding structures, this often leads to dose-limiting therapy We report a case of successful ultrasound-guided percutaneous biopsy of a chordoma in an 18-year-old female. More follow up is needed to determine the likelihood of recurrence of the chordoma and evaluate survival after resection.Informed consent was obtained from this patient prior to submitting this manuscript.


Kohlmeier-Degos (K-D) disease is a rare obliterative vasculopathy that can present as a benign cutaneous form or with potentially malignant systemic involvement. The gastrointestinal tract is most frequently involved in systemic disease and mortality is often related to bowel perforations. Herein, we provide information to providers and patients regarding gastrointestinal K-D symptomology, pathology, treatment, and diagnosis, with a focus on the importance of timely diagnostic laparoscopy. We present three new cases of gastrointestinal K-D to highlight varying disease presentations and outcomes.Based on reviewed reports, perforation is preceded by at least one gastrointestinal symptom: abdominal pain/cramping, anorexia/weight loss, vomiting, diarrhea, nausea, gastrointestinal bleeding, obstipation, constipation, and abdominal fullness. Perforation most commonly occurs in the small intestine and often results in sepsis and death. Although underutilized, laparoscopy is the most sensitive and specific diagnostic technique, demonstrating serosal porcelain plaques similar to those on the skin and characteristic for K–D. The combination of eculizumab and treprostinil is presently the most effective treatment option for gastrointestinal K–D. The pathology of gastrointestinal K-D is characterized by an obliterative intimal arteriopathy eventuating in occlusive acellular deposits of mucin and collagen along with an extravascular pauci-cellular sclerosing process resembling scleroderma confined to the subserosal fat. C5b-9 and interferon-alpha are both expressed in all caliber of vessels in the affected intestine. While C5b-9 blockade does not prevent the intimal expansion, enhanced type I interferon signaling is likely a key determinant to intimal expansion by, causing an influx of monocytes which transdifferentiate into procollagen-producing myofibroblast-like cells.Prompt laparoscopic evaluation is necessary in any K–D patient with an abdominal symptom to facilitate diagnosis and treatment initiation, as well as to hopefully decrease mortality. Those with gastrointestinal K–D should start on eculizumab as soon as possible, as onset of action is immediate.The online version contains supplementary material available at 10.1186/s13023-022-02322-9. Kohlmeier–Degos (K–D) disease is a rare obliterative vasculopathy that can present with benign cutaneous lesions or as a potentially malignant systemic process . In cutaneous K–D, mature lesions demonstrate an atrophic and avascular “porcelain-white” center with an erythematous border, most often on the trunk and upper extremities Fig. A 1]. Th. Th1]. TA literature review of gastrointestinal K–D was conducted. Additional file Across the 58 included articles, 65 patient cases were described. Of the 63 cases in which gender was reported, 46% (n = 29) were females and 54% (n = 34) were males. Of the 62 cases in which age was reported, two occurred in infants and six in those younger than age 18 years; of the 54 cases in patients 18 or older, the median age of presentation was 42 years. Most reports did not document patient race.In these 65 patient cases, K–D skin lesions preceded gastrointestinal manifestations, with numbers ranging from several to many hundred and patient awareness of lesions ranging from only a few days to almost 30 years . The medK–D diagnoses were established via biopsy of distinctive cutaneous lesions in 54% (n = 35) of cases. Biopsies revealed wedge-shaped ischemia and overlying hyperkeratosis or lymphocytic inflammation around dermal venules and arterioles . Two casVarious gastrointestinal techniques were employed in evaluation. Endoscopy most often showed ulcerations though patchy erythematous change and inflammation were also seen. Colonoscopy infrequently demonstrated ulceration and strictures . LaparotOf all 65 patient cases, 49% (n = 32) reported gastrointestinal perforation. Of these, only five had survived by the time of case publication , 46, 54.Each reported case of perforation was preceded by at least one gastrointestinal symptom, most frequently abdominal pain/cramping, the next most frequent being anorexia/weight loss and vomiting. Less common symptoms included diarrhea, nausea, and gastrointestinal bleeding, with infrequent reports of obstipation, constipation, and abdominal fullness. Perforation was not reported in a previously asymptomatic patient. The duration of time from abdominal symptom onset to perforation was variable and unpredictable. Most perforations were identified through emergency laparotomy or were recognized at autopsy. Patients and their physicians may have been unaware of the peril that gastrointestinal symptoms represent in the setting of K-D, may not have recognized existing skin lesions as K–D, or may not have known how to establish the diagnosis before perforation occurred.Fifty-seven percent (n = 37) of gastrointestinal K–D occurred with other systemic manifestations. Of these, neurologic involvement was most common . Synchronous neurologic and gastrointestinal symptoms  or gastrointestinal manifestations preceding neurologic symptoms  were common patterns. Infrequently, neurologic symptoms developed before gastrointestinal . There was one case dominated by clinical gastrointestinal symptoms with neurologic disease found on autopsy  and one Other systemic manifestations seen with gastrointestinal K–D included pleural , pericardial , renal , and ophthalmic . Of the five patients who survived following perforation, three had extra-abdominal systemic manifestations, with pleural and pericardial involvement  and neurK–D may coexist with dermatomyositis , 34, 52,We present two cases in which diagnosis by laparoscopy enabled successful intervention. In the third case, perforation occurred before this procedure was accomplished and the outcome was fatal.A 15-year-old male presented with lesions beginning 1.5 years prior. They began as asymptomatic papules that progressed to atrophic porcelain lesions with bright-pink erythematous rims. The lesions spread from his abdomen to his legs, increasing to over 100 in number.Biopsies showed morphology typical of K-D disease characterized by an attenuated epidermis and subepidermal wedge-shaped fibrosis with vascular drop-out Fig. D. There Two years later, the patient reported months of intermittent left lower quadrant/periumbilical abdominal pain, and looser and frequent bowel movements. Skin lesions were stable. A 2-mm discrete, round sub-conjunctival white lesion with surrounding telangiectasiae suggested ophthalmic K–D.Magnetic resonance enterography (MRE) revealed mild wall thickening of the terminal ileum (TI). Laparoscopic evaluation was advised by an expert on K–D. This demonstrated small white lesions scattered throughout the small and large bowel Fig. D.Systemic K-D was diagnosed and eculizumab was initiated two days post-operatively. Abdominal discomfort resolved after a few doses of eculizumab. Follow-up MRE showed improvement of his prior TI thickening and evidence of new mild inflammation of the descending colon. Two months later, subcutaneous treprostinil was initiated. His ocular lesion and skin lesions were stable. Repeat MRE while on dual therapy exhibited resolution of the colonic findings but mild active inflammation in a short segment of the TI.Due to pain and irritation at the site of his treprostinil infusion, he transitioned to enteral treprostinil without any gastrointestinal side effects. Follow-up MRE obtained eight months from the prior study revealed ongoing mild ileal inflammaiton (as above) and a recurrence of hyperenhancement and inflammatory changes of the descending colon. This study notably followed some periods of missed eculizumab infusions due to challenges with insurance. Gastrointestinal symptoms recurred in this setting, though resolved when he resumed eculizumab consistently.A 16-year-old female presented with a two-year history of skin lesions. When evaluated, she had more than 50 lesions, each comprised of a central, porcelain atrophic scar surrounded by a rim of telangiectasia. The lesions spared the face, palms, and soles.She reported generalized, progressively more severe and frequent, sharp abdominal pain with onset roughly concurrent with the skin lesions. Multiple emergency department evaluations resulted in an impression of functional abdominal pain.Skin biopsy was highly suggestive of K-D, as revealed by attenuated epidermis, subjacent vascular drop-out, and fibrosis. Residual vessels within the fibrotic zone exhibited basement membrane zone thickening and were largely devoid of viable endothelium Fig. B. The adWhile endoscopic evaluation of the gastrointestinal tract was normal, laparoscopy revealed multiple pale ulcerations on the serosal surface of the small bowel, most prominently at the TI. Full-thickness jejunal biopsy demonstrated lymphocytic and thrombogenic small vessel vasculitis while a striking mucinous obliterative intimal arteriopathy was observed in small- and medium-sized vessels Fig. . A nonspGiven the escalating severity of abdominal pain, eculizumab was initiated. Significant advocacy was required to obtain this medication. After infusions were initiated, the patient reported almost immediate relief and sustained resolution of abdominal pain. She has not initiated treprostinil. Her skin lesions have remained stable.A 57-year-old female presented for evaluation of a three-month history of pruritic, progressively more numerous red bumps. On examination, there were multiple erythematous papules with mild scaling and central scarring scattered on the trunk and extremities, with predilection for the lower legs. Punch biopsy showed an attenuated epidermis with subjacent hyalinizing fibrosis and profound vascular drop-out. Within the hypovascular fibrotic zone, a few mummified-appearing capillaries and venules devoid of viable endothelium and exhibiting intravascular thrombosis were observed Fig. C. PeriphShe had recently experienced new abdominal bloating but otherwise denied gastrointestinal symptoms. Endoscopy and sigmoidoscopy were normal.Seven weeks later, she had a three-fold increase in skin lesions to over 100 in number. Diagnostic laparoscopy was strongly recommended. She began having severe abdominal pain several weeks before her surgery date.An abdominal computed tomography revealed ascites and multiple foci of free air necessitating emergent laparotomy, where multiple ischemic lesions were visualized on the small bowel Fig. C along wEculizumab was obtained from the manufacturer  and approved by the hospital for emergency use. During this time, the patient improved and was discharged.Three days later, she returned with recurrent pain. A laparotomy was performed, revealing two new jejunal perforations distant from the previously resected region.The following day, eculizumab was initiated, with a second infusion one week later. New cutaneous lesions continued to emerge. Her condition deteriorated, complicated by spiking fevers, respiratory failure, and abdominal free air suggestive of new perforations. She transitioned to comfort care 22 days into the admission and passed away the same day. The total time from cutaneous lesion onset to death was approximately eight months.Grossly, lesions in the gastrointestinal tract are similar to those on the skin: discrete erythematous macules that evolve into atrophic porcelain-white papules and plaques Fig. B. The grThe thrombotic microvascular changes in the skin at the capillary venular level are not encountered in the lamina propria of the gastrointestinal tract Fig. A. The diThe vascular changes include distinctive intimal proliferative arterial lesions. In the initial phase of the arteriopathy, there is influx of CD163+ CD11C+ monocytes into the intima, including foam cells and cells exhibiting a myofibroblastic phenotype. This influx is associated with the obliterative intimal arteriopathy and defines a critical event in lesional evolution. The infiltrating mononuclear cells demonstrate a myeloid dendritic cell phenotype revealed by the extent of CD4, CD14, and CD11C immunoreactivity. The cells express actin but not the smooth muscle markers desmin, calponin, and caldesmin. The arterial lesions resemble the obliterative intimal vasculopathy of lupus arteriopathy, coronary artery stent restenosis, and accelerated transplant rejection.Temporal heterogeneity of gastrointestinal K-D is characteristic. An intestinal specimen can show these evolutionary distinct lesions. The incipient arterial lesion is one of asymmetrical expansion of the intima by mucin and collagen with a few mononuclear cells Fig. B. TemporThe larger vessel vasculopathy encountered in the subserosal blood vessels resembles the arterial changes that occur in dermatomyositis. In the latter, the distinctive serosal lesions of K–D are not seen (except when the two diseases coexist). MXA protein deposition provides evidence of enhanced interferon alpha expression in the pathogenesis of the obliterative arteriopathy of K–D Fig. E. AlthouWe feel that the neointimal proliferation intrinsic to the arterial lesion of K–D is an immunologically-driven process that reflects a proinflammatory milieu conducive to the influx of monocytes into the intima. The monocytes then undergo a transdifferentiation into matrix-producing myofibroblast-like cells. This could be pathogenetically implicated in the extravascular sclerosing pattern that resembles scleroderma.Endothelial cell progenitor deficiency is likely a key contributor to the neointimal growth. When injured intima is devoid of endothelium, a lack of endothelial cell progenitor reconstitution results in a microenvironment conducive to monocyte recruitment and subsequent myofibroblastic differentiation.The obliterative proliferative neointimal arteriopathy and the sclerodermic fibrosing serositis occur independently of complement inhibition Fig. F as we hUntil recently, virtually all published cases of systemic K-D reported catastrophic and fatal outcomes. Deaths from gastrointestinal K-D resulted from recurrent bowel perforation, with hemorrhage, hypotension, and sepsis. In our review, 59% 19/32) of those with gastrointestinal perforations died of sepsis or severe peritonitis  of those, 31, 55.While single case reports of remission with other therapies exist , 13, 54,Individuals diagnosed with K–D only after presenting with bowel perforation require urgent intervention. In addition to the complications attendant on the perforation, they are at high risk of additional perforation(s) due to the multiplicity of bowel lesions. Eculizumab should be infused as soon as possible. The onset of action is immediate, but the outcome may be poor because of sepsis and vascular instability that can often result in the setting of bowel perforation.Those with laparoscopic identification of lesions typical of K–D but without an acute abdomen must be considered at high risk of perforation and the initiation of eculizumab should not be delayed. Those patients who have not previously received meningococcal vaccination will require prophylactic antibiotics.Any individual with K–D experiencing unexplained abdominal pain warrants immediate performance of laparoscopy. This cannot be overemphasized. Based on only small numbers to date, our experience suggests no other procedure has comparable sensitivity or specificity. No other disorder produces similarly-appearing serosal lesions . Hesitancy to perform a surgical procedure for diagnosis puts the patient at high risk for diagnosis made only after perforation.There has only been one report of fatality from gastrointestinal K–D when eculizumab and treprostinil were initiated before bowel perforation .Monotherapy with eculizumab, remarkably effective as a gastrointestinal crisis intervention, has not proven to provide long-term symptomatic relief. Within months of initiation of treatment, those so treated have noted recurrent abdominal pain. Perforation while on long-term eculizumab monotherapy has been seen .Treprostinil, a prostacyclin analogue, was first employed in systemic K–D after a patient with K–D-like lesions in the setting of scleroderma-lupus overlap noted regression of her cutaneous lesions after subcutaneous treprostinil was initiated for pulmonary hypertension . In addiAddition of treprostinil by subcutaneous or oral route has resulted in prolonged remission of gastrointestinal symptoms when added to eculizumab . TreprosAlthough subcutaneous (or intravenous) treprostinil has more consistent absorption than when administered orally, subcutaneous administration is often poorly tolerated with intense infusion site pain. In the setting of recurrent gastrointestinal K–D, we favor initiating subcutaneous treprostinil and considering subsequent conversion to oral therapy for patient convenience and tolerance.At present, there is no serologic marker of K–D activity and no imaging study that has been shown to be highly specific for disease activity. Drug response has been assessed clinically, primarily by resolution of abdominal pain. However, individuals with K–D who have experienced bowel perforation and developed adhesions may have recurring pain even in the absence of active disease. Repeating laparoscopy to document involution or resolution of serosal lesions may be the best objective means to demonstrate drug efficacy, but this has been infrequently performed. The authors believe laparoscopic evaluation is the most powerful means of both diagnosing gastrointestinal K–D and of assessing response to therapy.The combination of eculizumab and treprostinil has failed to prevent the emergence or progression of neurologic or pleural-pericardial disease in some individuals.In contrast to use of eculizumab in atypical hemolytic uremic syndrome (aHUS), therapy is needed indefinitely for K–D. Insurance coverage, essential for access, may be difficult to secure and maintain because of drug expense, the “off-label” nature of this use, and the lack of double-blind controlled studies demonstrating efficacy. In addition, many case-reviewers may be unfamiliar with this ultra-rare disease. For those uninsured or under-insured, for individuals in third-world countries, or for those with national health insurance, the expense of therapy, although potentially lifesaving, may be an insurmountable barrier.The case for drug approval rests on a few key elements. First, untreated systemic K–D is a rapidly fatal disease and reference can be made to the other name of this disorder: malignant atrophic papulosis. Second, if treatment for this disorder were restricted to FDA-approved therapy, there would be no treatment. Third, the ultra-rare incidence of this disorder and the fatal nature of untreated disease mean that double-blind controlled studies are neither feasible nor ethical. At best, we can compare outcome on current therapy with the dreadful outcomes reported in the literature prior to current therapy. Fourth, prolonged survival of a cohort of patients on this two-drug regimen has now been reported.The therapies discussed will undoubtedly undergo evolution as disease mechanisms are better understood. There are now drugs that directly target the interferon pathway and others with anti-interferon activity. Finally, given the identical morphology with transplant rejection and accelerated atherosclerosis, drugs that reduce neointimal proliferation such as rapamycin might be added to the regimen; but there is no report of the use of these drugs yet.Unrecognized and untreated gastrointestinal K–D will result in perforation and death. Yet, there is almost always opportunity for diagnosis and intervention before such catastrophic outcomes.First and foremost, there must be greater awareness of K–D among dermatologists and gastroenterologists. The lesions have such a characteristic appearance that familiarity with the entity should result in its prompt recognition. Dermatologists must educate individuals diagnosed with K–D of the risk of progression to systemic disease and inform them that the gastrointestinal tract is the most common system involved, encouraging follow-up should gastrointestinal symptoms arise. In individuals with unexplained gastrointestinal symptoms, the gastroenterologist should always look for cutaneous lesions typical of K–D. The patient may be unaware of their existence and the lesions may be few in number.Based on review of the literature, gastrointestinal symptoms preceded perforation. Nevertheless, providers should remain vigilant for perforation as symptom minimization is a potential consideration. Of note, we are aware of one unpublished case in which a patient with long-standing skin lesions suffered perforation without any reported preceding gastrointestinal symptom. Because the pathology of the disease centers on the bowel serosa, laparoscopy is the best means to early discovery of bowel involvement. In the individual with unexplained gastrointestinal symptoms in the setting of K–D, laparoscopy should not be delayed. If lesions consistent with K–D are identified on the bowel serosa, treatment with eculizumab should be initiated promptly. Eculizumab has immediate onset of action but its benefit may not suffice to prolong the lives of those who have already sustained perforation.Monotherapy with eculizumab does not result in long-term remission. Addition of treprostinil is necessary to maintain remission from gastrointestinal K–D. However, there are reports of progressive neurologic, pleural, and pericardial K–D despite ongoing therapy with eculizumab and treprostinil. Further therapies to address and reverse the neointimal proliferation associated with K–D will undoubtedly emerge. Systemic K–D, malignant atrophic papulosis, is increasingly a treatable disease, particularly when promptly recognized and diagnosed.Additional file 1.Appendix 1. EBSCOhost was used to search Business Source Elite; CINAHL; EBSCOhost eBook Collection; ERIC; GreenFILE, Health Course; Nursing/Academic Edition; Library, Information Science and Technology Abstracts; MEDLINE; Newspaper Source; Professional Development Collection; APA PsychArticles; APA PsychInfo; Regional Business News; and The Serials Directory. Only Academic Search Elite, Health Source: Nursing/Academic Edition, and APA PsychInfo yielded articles based on search terms.


Both babies presented with remarkable micromelic short stature with the telephone-handle appearance of the femoral bones characteristic of type 1 TD, developed progressive respiratory distress at birth, and died within 36 hours of life despite respiratory support with Bubble CPAP. These cases are discussed along with a review of existing relevant literature.Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant short stature, macrocephaly, a funnel-shaped chest, protuberant abdomen, redundant skin in the limbs, and typical facies among others. The two clinical types of TD are differentiated by typical cranial and tubular bone configurations. Antenatal diagnosis is usually made in the last trimester and corroborated at birth. We present 2 cases of TD seen at Barau Dikko Teaching Hospital (BDTH) between January and August 2021 to highlight the potential difficulty with antenatal diagnosis, its diagnostic features, and associated early postnatal fatality. The antenatal diagnosis was missed in both cases in spite of repeated 2 Thanatophoric dysplasia, (TD) was reportedly used for the first time in 1967 by Marateaux, Lamy, and Roberts who differentiated this condition from classical achondroplasia. . While tBabies with thanatophoric dysplasia characteristically present with macrocephaly, depressed nasal bridge, extreme shortening of tubular bones and ribs, narrow bell-shaped thorax, redundant skin folds in the extremities, vertebral body thinning, malformed temporal lobe, as well as hypoplastic lungs. Two clinical subtypes are differentiated by the presence of curved long bones shaped like table telephone handle seen in type 1 TD and cloverleaf-shaped head with straight long bones and less severe flatness of the vertebral bodies in type 2 TD .Affected babies develop severe respiratory distress as a result of pulmonary hypoplasia, rapidly progressing to death within 24 hours. , 7. DeatIn Nigeria, obstetric care is characterised by low antenatal-care attendance  and a hist and 5th minute, respectively. Before the plan for NICU admission was concluded, the parents left the hospital with the baby of their volition but returned 14 hours later to the hospital because of inability to suck and progressive breathing difficulty.Baby 1 was a term female neonate delivered spontaneously per vagina with “multiple malformations” at BDTH Kaduna, to a 25-year-old para 2 + 0  mother. The APGAR scores were 6 and 7 at the 1rd-trimester ultrasound reported the “presence of polyhydramnios but no evidence of fetal abnormalities.” The father was a 40-year-old businessman who had no consanguineous relationship with the mother.The mother received antenatal care and took both orthodox and herbal medications but was not exposed to any known teratogens. She was neither hypertensive nor diabetic pre- or postconception and there was no family history of congenital abnormalities. A 3On examination, she was severely dyspneic with chest wall recessions, nasal flaring, tachypnea, and central cyanosis. She was visibly dysmorphic with macrocephaly, frontal bossing, sutural diastasis, depressed nasal bridge, and low-set ears. Other notable abnormalities included very short upper and lower limbs, with multiple excessive skin folds, short and stubby digits (brachydactyly), a narrow chest, and a protuberant abdomen. The head was not trilobed. Anthropometry revealed a weight of 2.5 kg, length of 38 cm , occipitofrontal circumference (OFC) = 40 cm, and chest circumference (CC) = 27 cm, OFC : CC = 1.5 cm. The clinical examination findings are summarized in Tables A clinical diagnosis of congenital dwarfism most likely thanatophoric dysplasia was made with differential diagnoses of achondroplasia and achondrogenesis. The radiological findings  includedBaby 2  was brought into SCBU 2 hours postdelivery. He was delivered to a 35-year-old gravida 10 Para 9 + 2  mother by elective caesarean section at term. The APGAR scores were 6 and 8 in the 1st and 5th minute, respectively, and the birth weight was 2.2 kg.The pregnancy was booked for antenatal care at about 32 weeks gestation at a private health facility from where the mother was referred to BDTH on account of an abdominal ultrasound examination which revealed “fetal abnormalities,” but the details were not specified. A repeat USS at our facility at 35 weeks showed polyhydramnios and shortening of fetal long bones and a diagnosis of achondrogenesis was made.nd and 4th pregnancies ended as 1st-trimester spontaneous abortions.There was no maternal history of hypertension, diabetes mellitus, or sickle cell disease. The mother received routine antenatal medications and was not exposed to any known teratogens. The father was a 45 years old self-employed businessman. The family was monogamous, nonconsanguineous, and had no history of congenital malformations. However, 2Examination revealed a term baby with obvious abnormalities characterised by short stature, macrocephaly, depressed nasal bridge, narrow chest, and distended abdomen, but no palpably enlarged organs. Other prominent features included micromelia and multiple segmented circumferential skin folds on all the limbs. He was in severe respiratory distress with central cyanosis and poor, barely audible breath sounds. Respiratory rate was 65/min, heart rate = 134 beats/min, heart sounds were 1 and 2 only, no murmur. He was conscious with patent fontanels and widened sutures while muscle tone and primitive reflexes were slightly depressed. Anthropometry: weight = 2.2 kg, length = 38 cm, occipitofrontal circumference (OFC) = 43 cm, chest circumference (CC) = 25 cm, OFC : CC = 1.72, arm span = 28 cm, upper segment (crown-rump length) = 28 cm, lower segment (rump-heel length) = 11 cm, upper: and lower segment ratio = 2.54. The clinical and radiographical features are summarized in Tables nd and 3rd-trimester sonography, prenatal diagnosis was not made. This highlights the difficulty that may be associated with antenatal diagnosis. Several authors have, on the contrary, reported cases of TD correctly diagnosed in-utero with sonographic examination [We have presented the first 2 cases of “neonatal dwarfs” with clinical and radiological features of thanatophoric dysplasia type 1, a rare form of congenital chondrodysplasias, from our center. In spite of 2mination , 12. Skemination . TherefoThere was no family history of the disease in both patients. TD is an autosomal dominant (AD) disease with remarkably high perinatal fatality and each case invariably results from a ‘‘de novo” genetic mutation. The parents are phenotypically normal, recurrence risk in subsequent offspring is nonexistent, and positive family history is unlikely. This was alluded to by Waller et al.  who repoThanatophoric dysplasia is defined by unique anthropometry and skeletal morphology. In the babies here presented, we demonstrated extreme short stature with crown-heel length greater than 3SD below the mean length of Nigerian newborn babies  , as wellWe did not conduct genetic analysis on our patients for lack of appropriate facilities. However, in spite of being a genetic disorder with clearly defined molecular abnormality, clinical and radiological features are sufficiently characteristic and therefore often suffice in its diagnosis , 17. TheExtrauterine survival is usually severely impaired, resulting in early postneonatal death if respiratory support is not provided . AggressThe differential diagnoses of thanatophoric dysplasia include achondrogenesis and achondroplasia among others. Achondrogenesis is associated with extreme dwarfism and postnatal fatality but lacks the classical multiple skin folds of the extremities , while aThanatophoric dysplasia, a rare genetic skeletal dysplasia, is a distinct clinical and radiological entity that requires a thorough and skillful antenatal sonographic fetal diagnosis for early family counseling. Antenatal misdiagnosis can be avoided by creating awareness to bridge the existing knowledge gap.


Situs Inversus (SI) is a rare congenital condition in which the abdominal and thoracic organs are located in a mirror image of the normal position in the sagittal plane. Although this condition does not affect normal health or longevity, its recognition is very important for treating many diseases, particularly those requiring surgical intervention. The relationship between situs inversus and cancer remain inconspicuous.We report a 64-year old male with Situs Iinversus Abdominalis with Pancreatic Adenocarcinoma. Radiographic modalities were very important in preoperative assessment of the patient. The patient was managed by pyloric preserving pancreaticoduodenectomy. The patient received adjuvant chemotherapy and free of recurrence for one year after operation.Surgeons must recognize the complexity of operative intervention with respect to aberrant anatomy. The occurrence of Situs Inversus in a patient with pancreatic cancer must not deter the surgeon from sound oncologic principles of pancreatic surgery. Referral to these cases to tertiary level center is of utmost importance. •Inversus Abdomenalis (SIA) which is least frequent of them •Situs inversus abdomenalis may be accopanied with malrotation of abdomenal viscera including pancreas , small and large bowel.•Recognition of SIA by the new imaging modality MSCT and MRCP is very important for treating many diseases, particularly in surgery.•Surgeons must recognize the complexity of operative intervention with respect to aberrant anatomy to do surgery on sound oncologic principles. A 64-year-old male patient presented to EL-Rajhy University Liver Hospital, Assiut, Egypt with jaundice of 4 weeks duration, pruritus, and recent weight loss. There are no other medical or psychological comorbidities. Both rug history and family history were negative. Laboratory data showed a pattern of obstructive jaundice  with impaired clotting profile . All other laboratory data were with in normal including tumor markers (carcinoembryonic antigen and CA 19-9).The case report was done according to the scare 2020 criteria [6]Imaging investigation in the form of abdominal ultrasonography, triphasic abdominal CT, Magnetic resonance cholangiopancreatography (MRCP) and chest CT revealed that the patient had SIA in the form of left sided liver, right sided spleen and stomach with normal left sided heart. The abdominal aorta and inferior vena cava were both normal sided. There was a 3.6 × 3 cm lesion in the head of a posteriorly located pancreas that was partially infiltrating a preduodenal portal vein with subsequent dilatation of biliary system and hugely dilated midline located gall bladder that contained a single large stone. There were small peripancreatic lymph nodes, no liver or distant metastasis A,B, 2A,BEndoscopic Retrograde Cholangio-Pancreatography was done but cannulation of the ampulla of vater failed due to the anomalous location of the ampulla.Pancreaticoduodenectomy was done. Laparotomy through a left subcostal incision with midline extension. The exploration confirmed SIA. The stomach fundus was on the right side with the pylorus, first and second parts of duodenum were extending from right to left to pass posterior to the portal vein. Then, the third and fourth parts of duodenum return to the right side and the jejunum starts at the right side. The rest of intestine showed non-rotation type of mal-rotation where the whole colon was in left side and the whole small intestine was in right side A,B. The The anatomy of porta-hepatis was as follows:The common bile duct extended cranially from an anterior location to the portal vein then becomes on its right side then pass behind the portal vein to join the posteriorly located duodenum. The portal vein was fusiformally dilated reaching around 3 cm without signs of portal hypertension. The hepatic artery was to the right of the portal vein and posterior to the bile duct. It was traced back to emerge independently from the normally located aorta. The operation started with Kocherization of the left sided duodenum started by its dissection from left kidney then continued in a left-to-right direction until the entire head of the pancreas was free of the aorta and superior mesenteric artery. Then opening of the lesser sac was done by the use of ligature to demonstrate the abnormal located pancreas posterior to the portal vein. Dissection of the pancreas from portal vein was done. Then dissection of the bile duct from the portal vein was done in spiral manner due to different relations of bile ducts to portal vein as previously prescribed. Partial portal vein resection was done at the end of mass resection. Classical pyloric preserving pancreaticoduodenectomy was done with portal vein resection and standard lymphadenectomy. The most difficult step was the transection of posteriorly located pancreas.The reconstruction was challenging because of posteriorly located body of pancreas and malrotated jejunum. Duct to mucosa 4 layer pancreaticojejunstomy was done with a 4 fr silastic internal stent by 4/0 PDS. Hepaticojujonstomy was done. Duodenojujonstomy could not be done due to posteriorly located duodenum so its stump was closed by a stapler  and gastrojejunstomy was done 40 cm distal to hepaticojejunstomy A,B,C.FigThe specimen includes the pylorus, duodenum, part of jejunum, pancreatic head and uncinate process, gall bladder and cbd, part of the wall of portal vein. Ssplit cut section was whitish in colour obscuring pancreatic architecture and presence of gross cysts due to necrosis but there was no available photographs for the split cut of the tumor. The operation was done by the HBP surgery team in Elrajhy liver hospital under leadership of Dr. Ahmed MI Taha, Associate professor and consultant of HBP surgery.The patient had an uneventful postoperative course. He stayed 2 days in ICU. He resumed oral feeding at postoperative day 2 in the inpatient word. The patient was monitored in the word clinical, laboratory radiological till removal of drains and discharge at day 7.after discharge, the patient was monitored in outpatient clinic weekly in the first month then monthly in the next six months.A pathologic evaluation revealed a T3N1M0 poorly differentiated adenocarcinoma of the pancreas . Safety 3Different cancers have been reported with SIT and SIA anomalies as cancer of stomach, colon, pancreas, biliary tract, ampulla of Vater, and kidney. However, they are not considered premalignant conditions. Despite their rarity and regarding the non-negligible number of published sporadic cases of cancers in these settings, a relationship between situs abnormalities and cancer has been suggested Interestingly, 25% of the cases with SIT or SIA have concurrent bronchiectasis and chronic sinusitis, and together these conditions are termed the triad of Kartagener syndrome. Our patient did not have Kartagener syndrome The first and the only case of periampullary cancer in association with SIA was reported by Malcolm M. Bilimoria et al., in 2001. It was for a 44-year-old female patient with SIA 4Surgeons must recognize the complexity of operative intervention with respect to aberrant anatomy. The imaging modalities like MSCT and MRCP before pancreatic resections are not very accurate because of the anatomic variations in patients with Situs Inversus. The occurrence of Situs Inversus in a patient with pancreatic cancer must not deter the surgeon from sound oncologic principles of pancreatic surgery. Referral to these cases to tertiary level center is of utmost importance.Ahmed MI. Taha, MDAhmed_Taha@Aun.Edu.EgEmail Address: Associate Professor And Consultant Of HBP Surgery, Assiut University, Egypt.None because This is the 2nd case reported with same condition.The first and the only case of ampullary cancer in association with SIA was reported by Malcolm M. Bilimoria et al., in 2001.Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of written consent is available for review by the editor- In-chief of this journal on request.The ethical committee approved the case report but waiting for official acceptance and number.The Ethical Committee Of Faculty Of Medicine Assiut University, Egypt.The dataset used and analyzed during the current study is available upon request.Not commissioned, externally peer reviewed.Study Concept Or Design: Ahmed M. M. Elkoussy, Ahmed MI. Taha.Data Collection: Ahmed M. M. Elkoussy, Kirollos W. Nazeh.Data Analysis Or Interpretation: Ahmed M. M. Elkoussy, Ramy A. Hassan.Writing The Paper: Ahmed M. M. Elkoussy, Ahmed MI. Taha, Ramy A. Hassan.None.None.


A 23-year-old man with right-sided chest pain underwent 18F-FDG PET/CT scan, showing increased 18F-FDG uptake in an anterior mediastinal mass corresponding to a thymic lesion at an enhanced CT scan. The patient was referred to surgery with the clinical suspicion of thymic malignancy. The histological examination and immunohistochemical results confirmed RDD. Conclusions This was the first case report of RDD isolated to the thymus and initially presented with chest pain. Moreover, there was no characteristic painless neck lymphadenopathy at any stage of the disease course. Thus, for young patients with thymus mass, RDD should be considered a rare but possible diagnosis.Background Rosai-Dorfman disease (RDD), the massive lymphadenopathy characterized by the proliferation of sinus histiocytosis, is a relatively idiopathic benign disease with unknown etiology. We reported a rare case of thymic RDD detected by  Lymph nodes of the mediastinum, abdominal cavity, and pelvic cavity may also be involved4. Studies have shown that over 40% of cases involve extranodal sites, including the nasal cavity (11%), orbital tissue (11%), skin (10%), bone (5–10%), central nervous system (5%), lung, and salivary glands [18F-FDG PET/CT, which sensitively detects metabolically active lesions, may not specifically distinguish benign and malignant thymic lymphoproliferative disorders. Ruth Lim et al. have found that RDD lesions exhibit higher 18F-FDG uptake due to increased glucose metabolism of the proliferating histiocytes and greater infiltration of inflammatory cells than tumor cells [The diagnosis of Rosai-Dorfman disease (RDD) was first described in 1969 and classified as a non-Langerhans cell histiocytosis. RDD is a rare benign lymphoproliferative disease of an unknown cause ,3,4. The%), bone –10%, ceny glands . Howevery glands ,9,10. Th18F-PET/CT (max: 8.96) in this lesion. No other abnormal 18F-FDG-avid lesion was observed.A 23-year-old man presented with a 5-day history of right-sided chest pain. The physical examination displayed no obvious abnormalities. His laboratory tests revealed increased C-reactive protein  and hyperglobulinemia . The chest CT  and 18F-F-PET/CT  were useAfter imaging evaluation and a series of routine preoperative tests, the patient successfully underwent midline open resection of the mediastinal tumor. During the operation, the anterior mediastinal tumor was found to invade the pericardium, aortic arch, and superior vena cava, enveloping the left and right innominate veins. By hematoxylin-eosin (H & E) staining and IHC staining, pathologists observed biopsied sections under microscopes and reported four diagnostic slides to determine the nature of the lesion . Figure RDD is known as sinus histiocytosis with massive lymphadenopathy (SHML), and it is characterized by the proliferation of non-Langerhans histiocytes, demonstrating S100+, CD68+, CD1a-, and emperipolesis . The typCombined anatomical localization and functional metabolism, PET/CT is often used for disease diagnosis and staging evaluation. In this case, the soft tissue mass in the anterior mediastinum showed FDG avid, presumably because of histiocytosis and surrounding inflammation ,15. PrimAlthough 20–50% of RDD patients are self-limited, there is still a proportion of patients suffering from prolonged disease or multiple organ invasion . At pres18F-FDG PET/CT.Isolated thymus involvement of RDD is rare, although other extranodal involvements are common. Here, we reported a case of primary thymic RDD, which should be considered as a differential diagnosis of a patient who presented with a hypermetabolic anterior mediastinal mass on


KIT/PDGFRA mutations. Here, we reported a case of CSS with unusual bladder PGL and succinate dehydrogenase (SDH) deficient GIST due to a germline mutation in SDH-subunit B (SDHB) gene.Carney-Stratakis syndrome (CSS) is a rare dyad of paraganglioma (PGL)/pheochromocytoma (PHEO) and gastrointestinal stromal tumor (GIST). PGLs are neuroendocrine tumors of neural crest origin which are mostly found in the head, neck, and retroperitoneal space. GISTs are the most common mesenchymal tumors of the digestive tract, usually caused by A 39-year-old female patient initially diagnosed with gastric GIST and isolated pelvic metastasis was eventually found to be CSS with bladder PGL and SDH-deficient GIST after surgery. This patient underwent resection of gastric and bladder tumors, and postoperative pathology confirmed the diagnosis of CSS. According to the next-generation sequencing (NGS), the patient carried a germline mutation in the SDHB gene, which was the cause of the disorder. The patient had no tumor recurrence with regular follow-up in 10 months.CSS is an autosomal genetic disorder with no gender difference in incidence, and PGLs are more frequent than GISTs. SDH germline mutation is the molecular biological mechanism of CSS while the most common type is SDHB mutation. The unique mechanism of tumorigenesis including hypoxia and hypermethylation caused by SDH deficiency renders target therapy with tyrosine kinase inhibitors ineffective, therefore complete surgical resection is the optimal treatment in the absence of tumor metastases. Carney-Stratakis syndrome (CSS) is a rare dyad inherited in an autosomal incomplete dominant manner that includes paraganglioma (PGL)/pheochromocytoma (PHEO) and gastrointestinal stromal tumor (GIST). It was distinguished from the Carney triad in 2002 by Carney et al. through a description of 12 patients from 5 unrelated families . GermlinPGL and PHEO are neuroendocrine tumors of neural crest origin while 30%-40% of them are familial . The vasKIT gene mutations in GIST in 1998  of the abdomen and pelvis revealed two masses located in the fundus of stomach and the right side of the pelvis, respectively, which were considered to be GIST originating in the stomach with solitary pelvic metastases by the local hospital.The patient then came to our hospital for treatment. Her physical examination was normal, no mass was palpated in her abdomen, and her blood pressure and heart rate in a calm state were 109/70 mmHg and 72 bpm, respectively. The re-examination of enhanced CT of the abdomen and pelvis showed a soft tissue mass of approximately 33 mm×54 mm in the gastric wall on the greater curvature of the gastric body with clear boundaries and a smooth surface. A nodule of 26 mm × 29 mm was seen on the right anterior side of the pelvic wall, which was unclearly demarcated from the bladder wall. And there were no obvious abnormal signs in the rest of the body  result showed tumor cells were CD117(+), DOG-1(+), SDHB(-), and Ki-67 5%  from 5 different families, and they defined this inherited, incompletely penetrant syndrome as CSS , including 21 male patients (53.8%) and 18 female patients (46.2%) –30. In tSDH is a mitochondrial enzyme complex consisting of four subunits, SDHA, SDHB, SDHC, and SDHD, which are encoded by nuclear genes located at 5p15.22, 1p36.13, 1q23.3, and 11q23.1, respectively. It is involved in both the tricarboxylic acid cycle  and in the respiratory electron transfer chain (transferring electrons to coenzyme Q). The SDHA subunit is a flavoprotein that binds and catalyzes succinate to fumarate . SDHB isIt is not completely clear that the dysfunction of SDH leads to tumors; several mechanisms have been proposed. One of them is the activation of the pseudohypoxia pathway . Due to Based on a summary of reported Carney-Stratakis syndrome cases Table 1,PGL and GIST in CSS have unique clinical features due to their specific pathogenic mechanism. SDH-deficient PGL is usually multifocal and widely distributed. They may occur in the head and neck, back, mediastinum, retroperitoneum, adrenal gland, and pelvis, of which the head, neck, and retroperitoneum are the most common sites . Most PGGIST is the most common mesenchymal tumor of the digestive tract, and its most common cause is abnormal activation of the tyrosine kinase pathway due to mutations in the KIT or PDGFRA gene. In addition, approximately 5% of GISTs are caused by loss of SDH function. They usually have SDH expression defects and are called SDH-deficient GISTs . Most SDAlthough both PGL and GIST in CSS have unique clinical features, and histopathological detection methods can be used as diagnostic aids, PGL and GIST are also part of the Carney triad. It makes the differential diagnosis between Carney triad and Carney-Stratakis syndrome difficult. Unlike Carney-Stratakis syndrome, due to the pathogenesis of germline mutations in the SDHx gene, no gene related to the pathogenesis of Carney triad has been found thus far. Carney once proposed that large segment loss of 1q was the most common genetic abnormality in Carney triad . Haller Surgical resection is the treatment of choice for both Carney-Stratakis syndrome and Carney triad. Once SDH-deficient GIST is diagnosed, surgery is the most appropriate treatment for the GIST and any related clinical syndromes. In addition, due to different biological behaviors, SDH-deficient GISTs are not suitable for the current evaluation system, such as the modified NIH evaluation criteria, in the evaluation of postoperative recurrence risk . SurgeryCarney-Stratakis syndrome is a dyad involving PGL and GIST, which is inherited in an autosomal incomplete dominant manner with no gender difference in incidence, and PGLs are more frequent than GISTs. Not every patient with CSS will develop both PGL and GIST. This case showed that the diagnosis of CSS should be considered in patients with SDH-deficient GIST with other solitary tumors. SDH germline mutation is the molecular biological mechanism of CSS while the most common type is SDHB mutation. PGLs in CSS are mostly multiple lesions, and the majority are in the neck and retroperitoneal space but may also be solitary in the bladder. The unique mechanism of tumorigenesis including hypoxia and hypermethylation caused by SDH deficiency renders target therapy with tyrosine kinase inhibitors ineffective, therefore complete surgical resection is the optimal treatment in the absence of tumor metastases.All authors contributed to the diagnosis and treatment of the patient. YS and LD drafted the work and wrote the manuscript. XZ and YX edited the manuscript, substantively revised it, and approved the re-submitted version. YX and SH provide substantial help to the writing of the article. CM and YL made substantial contributions to the treatment and diagnosis of the patient. All authors contributed to the article and approved the submitted version.We thank the patient and their families in this paper for their consent. Thanks to Ms. Huang Yanmei for the data collation work for this study.The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.


Otitis media with effusion (OME) has several potential causes and the Eustachian tube dysfunction is one of the leading causes.Leiomyoma is a benign tumor of smooth muscle origin and the commonest site of leiomyoma is uterus followed by skin and gastrointestinal tract. It can arise from any tissue containing non striated muscles, but leiomyoma of head and neck region account for less than one percent of all leiomyomas because those regions lack smooth muscle.Here we describe an interesting case of OME due to leiomyoma arising from inside of the Eustachian tube which was excised completely by endoscopic endonasal approach with review of the literature.A 35 year-old man presented with a 6 year history of recurrent left OME. He had complaints about left aural fullness and hearing disturbance. He had those symptoms every time when he had acute pharyngolaryngitis and the symptoms subsided with cold medications. But this time, left aural fullness went on for 3 months despite the treatment. He had no history of ventilation tube insertion, and had tonsillectomy without adenoidectomy 10 years ago. He did not have otalgia, otorrhea, hyperacusis, autophonia, rhinorrhea, and postnasal drip.On physical examination, otoscopy revealed effusion in the middle ear and turbid tympanic membrane. Pure tone audiometry had 24 dB conductive hearing loss in the left ear A and tymRound mass was removed completely and uneventfully via endoscopic endonasal approach. The mass rised from the pharyngeal orifice of the Eustachian tube and extended to the nasopharynx A and B. About two week after operation, his symptoms disappeared. The histopathological examination of the excised mass showed features suggestive of leiomyoma, composed of well-differentiated smooth muscle cells confirmed by smooth muscle actin and Masson's trichrome stain. Mitoses were not found, and nuclear atypia was absent . After tWe demonstrated a case of leiomyoma at the Eustachian tube orifice, resulting in recurrent OME. To the best of our knowledge, this is the first case of a leiomyoma originating from the Eustachian tube, and removed successfully by endoscopic endonasal approach.Nasopharyngeal tumors present as unilateral nasal obstruction, aural fullness, hearing loss and epistaxis. Diagnosis is usually achieved by rhinopharyngoscopy and radiological investigations; however, histopathological examination confirms it. Adenoid is the most common soft-tissue tumor in the nasopharynx. Antrochoanal polyp, inverted papilloma and pleomorphic adenoma are the few other benign tumors of the nasopharynx but leiomyoma is an extremely rare tumor in the nasopharynx.Leiomyoma is a benign tumor of smooth muscle origin that can occur at anywhere in the body containing non-striated muscles. Leiomyoma is defined by the World Health Organization as a “circumscribed benign, often cutaneous tumor composed of intersecting bundles of mature smooth muscle cells.” The frequent sites of leiomyoma are female genital tract (95%) followed by skin (3%), and gastrointestinal (1.5%). Leiomyoma of head and neck region account for less than one percent of all leiomyomas,It is not uncommon to have OME due to the Eustachian tube dysfunction. The causes are extrinsic obstruction , inflammation of the mucous membrane lining of the Eustachian tube , intrinsic mechanical obstruction , and functional obstruction . Therefore, an adult with unilateral OME should undergo thorough examination including nasopharyngoscopy to rule out the presence of an unusual underlying pathologic condition. In this case, nasopharynx examination was not done despite the 6 years recurrent OME. With adequate local anesthesia and shrinkage, nasopharynx exam can be easily performed in the outpatient setting with nasopharyngoscopy. Our case points out the necessity of a nasopharyngoscopic examination for patients who present with recurrent OME.The surgical approach involving the Eustachian tube is a difficult procedure because of the inadequate exposure. Transmandibular, transmaxillary, transpalatal and transpterygoid approaches have been used for larger tumors. Nowadays with the advent of transnasal endoscopic surgery, more and more tumors located in the nasopharynx and lower part of the Eustachian tube have been treated in this way. For our case, an endoscopic endonasal approach was the best choice considering the tumor was contained within the orifice of the Eustachian tube and nasopharynx. The use of endoscopic techniques provided an excellent visualization and identification of attachment site inside the Eustachian tube, thereby could avoid mucosal trauma and its sequelae. The alternative approach could have been transpalatal approach but it carries a risk of fistula formation along with post-operative pain. Our case did not have any postoperative pain and was discharged on the operative day.This is the first case of Eustachian tube leiomyoma to be reported in the literature that emphasizes the role of nasal endoscopy and rarity of this tumor. The Eustachian tube leiomyoma could be removed successfully via endoscopic endonasal approach with less post-operative morbidity and early recovery.The authors declare no conflicts of interest.