BACKGROUND Situs inversus totalis(SIT)is a rare congenital condition that is characterized by a complete mirror image of the typical arrangement of the thoracic and abdominal viscera.Performing thoracoscopic segmentec...BACKGROUND Situs inversus totalis(SIT)is a rare congenital condition that is characterized by a complete mirror image of the typical arrangement of the thoracic and abdominal viscera.Performing thoracoscopic segmentectomy for a patient with lung cancer and SIT is an extremely skilled and challenging surgical procedure.CASE SUMMARY A 41-year old woman with a medical history of dextrocardia since childhood was admitted to our hospital with a mixed ground-glass opacity(mGGO)in her left lung field,discovered by computed tomography during her health checkup.In order to facilitate surgical orientation,three-dimensional computed tomography bronchography and angiography(3D-CTBA)was preoperatively carried out.The result of 3D-CTBA was consistent with the diagnosis of SIT and an mGGO in the posterior segment of the left upper lobe(LS2).Surgery was conducted in accordance with preoperative 3D-CTBA and designed surgical procedure,combined with intraoperative navigation.Final pathological examination revealed in situ adenocarcinoma.The patient’s postoperative condition was uneventful and no complications were observed.CONCLUSION We present the first case of lung cancer in a patient with SIT who successfully underwent thoracoscopic segmentectomy assisted by 3D-CTBA.This is a new technique that covers precise confirmation and dissection of targeted structures and intersegmental demarcation,and can help achieve a meticulous anatomical segmentectomy.展开更多
BACKGROUND Epidermoid cysts can be found at any location in the human body.However,perianal epidermoid cysts are extremely rare and only a few cases have been reported.As far as we know,there is no special literature ...BACKGROUND Epidermoid cysts can be found at any location in the human body.However,perianal epidermoid cysts are extremely rare and only a few cases have been reported.As far as we know,there is no special literature on the value of contrast-enhanced computed tomography(CT)for the diagnosis of perianal epidermoid cysts.CASE SUMMARY A 60-year-old male patient presented to the department of general surgery of PLA Strategic Support Force Characteristic Medical Center with the chief complaint of a mass in the perianal region gradually expanding for more than 30 years and perianal discomfort upon sitting for a preceding period of 2 mo.Physical examination revealed a painless mass in the left perianal region.Contrast-enhanced CT was used for preoperative diagnosis.The patient was treated by total mass excision under epidural anesthesia.Postoperative pathological examination revealed the presence of a perianal epidermoid cyst.The patient showed a satisfactory recovery during the 6-month follow-up period.CONCLUSION Contrast-enhanced CT may be a beneficial,useful,and convenient approach for assistance for preoperative diagnosis and surgical decision-making for patients with perianal epidermoid cysts.展开更多
BACKGROUND Hilar masses with stenosis of the bronchus occur mainly due to malignant diseases,such as lung cancer.Hilar masses resulting from invasive aspergillosis are extremely rare and occur mostly in severely immun...BACKGROUND Hilar masses with stenosis of the bronchus occur mainly due to malignant diseases,such as lung cancer.Hilar masses resulting from invasive aspergillosis are extremely rare and occur mostly in severely immunosuppressed patients.CASE SUMMARY In the current case report,we have documented a unique case of invasive aspergillosis presenting as a mass in the hilum and bronchial stenosis under bronchoscopy mimicking lung cancer in a 54-year-old man with diabetes mellitus.The histological analysis of bronchial membrane biopsy demonstrated fungal elements of 45°branching hyphae with positive Periodic Acid-Schiff and Grocott staining.After 3 mo of antifungal therapy,the symptoms,computed tomography scan and bronchoscopy manifestations all showed improvement.CONCLUSION We highlight that clinicians should consider a diagnosis of invasive aspergillosis when radiological examination shows pseudotumor appearance in diabetes mellitus patients.展开更多
BACKGROUND Adenomyomatous hyperplasia of the distal common bile duct(CBD)is very rare,with only scarce case reports in the literature.Diagnosis is usually based on imaging findings,and endoscopic biopsy is very diffic...BACKGROUND Adenomyomatous hyperplasia of the distal common bile duct(CBD)is very rare,with only scarce case reports in the literature.Diagnosis is usually based on imaging findings,and endoscopic biopsy is very difficult before operation.It is believed that adenomyomatous hyperplasia has little or no risk of malignant transformation.CASE SUMMARY A 68-year-old woman with abdominal pain in the right upper quadrant was referred to our hospital.Abdominal ultrasonography in the emergency ward revealed acute cholecystitis and dilated CBD.Laboratory findings showed elevated levels of transaminases,phosphatase,andγ-glutamyltranspeptidase.Pharmaceutical treatment for 3 d did not relieve the symptoms.Magnetic resonance cholangiopancreatography(MRCP)and computed tomography(CT)showed proximal bile duct dilatation but could not identify the cause.Endoscopic ultrasonography(EUS)demonstrated a mixed echogenic mass in the distal CBD.During surgery,a firm mass was found in the distal CBD and the Whipple procedure was performed with the initial concern of malignancy.Histology showed diffuse adenomyomatous hyperplasia.CONCLUSION EUS may be a useful choice to diagnose adenomyoma of the distal CBD before operation,especially in patients with ambiguous MRCP/CT findings.展开更多
BACKGROUND Fetal akinesia deformation sequence(FADS)is a broad spectrum disorder with absent fetal movements as the unifying feature.The etiology of FADS is heterogeneous and mostly still unknown.A prenatal diagnosis ...BACKGROUND Fetal akinesia deformation sequence(FADS)is a broad spectrum disorder with absent fetal movements as the unifying feature.The etiology of FADS is heterogeneous and mostly still unknown.A prenatal diagnosis of FADS relies on clinical features obtained by ultrasound and fetal muscle pathology.However,the recent advances of next-generation sequencing(NGS)can effectively provide a definitive molecular diagnosis.CASE SUMMARY A fetus presented after 24 wk and 6 d of gestation with absent fetal movements and multiple abnormal ultrasonographic signs.The mother had had a previous abortion due to a similarly affected fetus a year before.A clinical diagnosis of FADS was made.The parents refused cord blood examination and chose abortion.A molecular diagnosis of fetal muscle using NGS of genes found a compound heterozygous mutation in the MUSK gene:c.220C>T(chr9:113449410 p.R74W)and c.421delC(chr9:113457745 p.P141fs).CONCLUSION To our knowledge,this is the first report in China showing that a mutation in MUSK is associated with FADS.This supports previous finding that a lethal mutation of MUSK will cause FADS.A precise molecular diagnosis for genetic counseling and options for a prenatal diagnosis of FADS are very important,especially for recurrent FADS;this may also provide evidence for both prenatal and preimplantation genetic diagnoses.展开更多
BACKGROUND Primary sebaceous carcinoma of lacrimal gland(SCLG) is extremely rare. Due to its clinical characteristics, it is often misdiagnosed. It is known to be aggressive so delay in diagnosis can increase the chan...BACKGROUND Primary sebaceous carcinoma of lacrimal gland(SCLG) is extremely rare. Due to its clinical characteristics, it is often misdiagnosed. It is known to be aggressive so delay in diagnosis can increase the chance of local recurrence and metastasis. We report a case of primary SCLG.CASE SUMMARY A 75-year-old man was referred with a painful swelling in the right eyelid. Computed tomography scan demonstrates a 2.6 cm mass in upper outer quadrant of right orbit. After the incisional biopsy of the mass, he was diagnosed with squamous cell carcinoma of lacrimal gland. A right orbital exenteration, cervical lymph node dissection was performed. There was no involvement of the overlying periorbital skin, eyelid, or conjunctiva. Histological examination of the exenteration specimen showed tumor arising from the lacrimal gland, which had been entirely replaced by sebaceous carcinoma with sarcomatous and squamous differentiation. Neoplastic cells which were large and contained prominent nucleoli. Focal tumor remained in the posterior resection margin. Patient underwent adjuvant radiotherapy, total dose of 56 Gy with doseper-fraction 2 Gy to primary lesion. There has been no sign of recurrence until 2-years follow-up.CONCLUSION We report a rare case of sebaceous carcinoma arising from the lacrimal gland. Accurate diagnosis of SCLG is important for appropriate treatment and prognosis prediction.展开更多
基金Supported by The National Natural Science Foundation of China,No.81800050Natural Science Fund of Yangzhou City,No.YZ2017119Science and Technology Innovation Cultivation Program of Yangzhou University,No.2017CXJ122
文摘BACKGROUND Situs inversus totalis(SIT)is a rare congenital condition that is characterized by a complete mirror image of the typical arrangement of the thoracic and abdominal viscera.Performing thoracoscopic segmentectomy for a patient with lung cancer and SIT is an extremely skilled and challenging surgical procedure.CASE SUMMARY A 41-year old woman with a medical history of dextrocardia since childhood was admitted to our hospital with a mixed ground-glass opacity(mGGO)in her left lung field,discovered by computed tomography during her health checkup.In order to facilitate surgical orientation,three-dimensional computed tomography bronchography and angiography(3D-CTBA)was preoperatively carried out.The result of 3D-CTBA was consistent with the diagnosis of SIT and an mGGO in the posterior segment of the left upper lobe(LS2).Surgery was conducted in accordance with preoperative 3D-CTBA and designed surgical procedure,combined with intraoperative navigation.Final pathological examination revealed in situ adenocarcinoma.The patient’s postoperative condition was uneventful and no complications were observed.CONCLUSION We present the first case of lung cancer in a patient with SIT who successfully underwent thoracoscopic segmentectomy assisted by 3D-CTBA.This is a new technique that covers precise confirmation and dissection of targeted structures and intersegmental demarcation,and can help achieve a meticulous anatomical segmentectomy.
文摘BACKGROUND Epidermoid cysts can be found at any location in the human body.However,perianal epidermoid cysts are extremely rare and only a few cases have been reported.As far as we know,there is no special literature on the value of contrast-enhanced computed tomography(CT)for the diagnosis of perianal epidermoid cysts.CASE SUMMARY A 60-year-old male patient presented to the department of general surgery of PLA Strategic Support Force Characteristic Medical Center with the chief complaint of a mass in the perianal region gradually expanding for more than 30 years and perianal discomfort upon sitting for a preceding period of 2 mo.Physical examination revealed a painless mass in the left perianal region.Contrast-enhanced CT was used for preoperative diagnosis.The patient was treated by total mass excision under epidural anesthesia.Postoperative pathological examination revealed the presence of a perianal epidermoid cyst.The patient showed a satisfactory recovery during the 6-month follow-up period.CONCLUSION Contrast-enhanced CT may be a beneficial,useful,and convenient approach for assistance for preoperative diagnosis and surgical decision-making for patients with perianal epidermoid cysts.
基金Supported by Wenzhou Municipal Science and Technology Bureau,No.ZH2017001
文摘BACKGROUND Hilar masses with stenosis of the bronchus occur mainly due to malignant diseases,such as lung cancer.Hilar masses resulting from invasive aspergillosis are extremely rare and occur mostly in severely immunosuppressed patients.CASE SUMMARY In the current case report,we have documented a unique case of invasive aspergillosis presenting as a mass in the hilum and bronchial stenosis under bronchoscopy mimicking lung cancer in a 54-year-old man with diabetes mellitus.The histological analysis of bronchial membrane biopsy demonstrated fungal elements of 45°branching hyphae with positive Periodic Acid-Schiff and Grocott staining.After 3 mo of antifungal therapy,the symptoms,computed tomography scan and bronchoscopy manifestations all showed improvement.CONCLUSION We highlight that clinicians should consider a diagnosis of invasive aspergillosis when radiological examination shows pseudotumor appearance in diabetes mellitus patients.
基金Supported by The Program for Diagnostic and Therapeutic Technique of Clinically Important Disease in Suzhou,No.LCZX201707Program for GUSU Medicine Talents,No.GSWS2019012
文摘BACKGROUND Adenomyomatous hyperplasia of the distal common bile duct(CBD)is very rare,with only scarce case reports in the literature.Diagnosis is usually based on imaging findings,and endoscopic biopsy is very difficult before operation.It is believed that adenomyomatous hyperplasia has little or no risk of malignant transformation.CASE SUMMARY A 68-year-old woman with abdominal pain in the right upper quadrant was referred to our hospital.Abdominal ultrasonography in the emergency ward revealed acute cholecystitis and dilated CBD.Laboratory findings showed elevated levels of transaminases,phosphatase,andγ-glutamyltranspeptidase.Pharmaceutical treatment for 3 d did not relieve the symptoms.Magnetic resonance cholangiopancreatography(MRCP)and computed tomography(CT)showed proximal bile duct dilatation but could not identify the cause.Endoscopic ultrasonography(EUS)demonstrated a mixed echogenic mass in the distal CBD.During surgery,a firm mass was found in the distal CBD and the Whipple procedure was performed with the initial concern of malignancy.Histology showed diffuse adenomyomatous hyperplasia.CONCLUSION EUS may be a useful choice to diagnose adenomyoma of the distal CBD before operation,especially in patients with ambiguous MRCP/CT findings.
基金Supported by the National Natural Science Foundation of China,No.81701462(to Lv Y)the China National Health and Family Planning Commission,No.201402006(to Liu CX)
文摘BACKGROUND Fetal akinesia deformation sequence(FADS)is a broad spectrum disorder with absent fetal movements as the unifying feature.The etiology of FADS is heterogeneous and mostly still unknown.A prenatal diagnosis of FADS relies on clinical features obtained by ultrasound and fetal muscle pathology.However,the recent advances of next-generation sequencing(NGS)can effectively provide a definitive molecular diagnosis.CASE SUMMARY A fetus presented after 24 wk and 6 d of gestation with absent fetal movements and multiple abnormal ultrasonographic signs.The mother had had a previous abortion due to a similarly affected fetus a year before.A clinical diagnosis of FADS was made.The parents refused cord blood examination and chose abortion.A molecular diagnosis of fetal muscle using NGS of genes found a compound heterozygous mutation in the MUSK gene:c.220C>T(chr9:113449410 p.R74W)and c.421delC(chr9:113457745 p.P141fs).CONCLUSION To our knowledge,this is the first report in China showing that a mutation in MUSK is associated with FADS.This supports previous finding that a lethal mutation of MUSK will cause FADS.A precise molecular diagnosis for genetic counseling and options for a prenatal diagnosis of FADS are very important,especially for recurrent FADS;this may also provide evidence for both prenatal and preimplantation genetic diagnoses.
文摘BACKGROUND Primary sebaceous carcinoma of lacrimal gland(SCLG) is extremely rare. Due to its clinical characteristics, it is often misdiagnosed. It is known to be aggressive so delay in diagnosis can increase the chance of local recurrence and metastasis. We report a case of primary SCLG.CASE SUMMARY A 75-year-old man was referred with a painful swelling in the right eyelid. Computed tomography scan demonstrates a 2.6 cm mass in upper outer quadrant of right orbit. After the incisional biopsy of the mass, he was diagnosed with squamous cell carcinoma of lacrimal gland. A right orbital exenteration, cervical lymph node dissection was performed. There was no involvement of the overlying periorbital skin, eyelid, or conjunctiva. Histological examination of the exenteration specimen showed tumor arising from the lacrimal gland, which had been entirely replaced by sebaceous carcinoma with sarcomatous and squamous differentiation. Neoplastic cells which were large and contained prominent nucleoli. Focal tumor remained in the posterior resection margin. Patient underwent adjuvant radiotherapy, total dose of 56 Gy with doseper-fraction 2 Gy to primary lesion. There has been no sign of recurrence until 2-years follow-up.CONCLUSION We report a rare case of sebaceous carcinoma arising from the lacrimal gland. Accurate diagnosis of SCLG is important for appropriate treatment and prognosis prediction.
