Case report

摘要： BACKGROUND Mantle cell lymphoma(MCL)is a subtype of Non-Hodgkin’s lymphoma(NHL).MCL frequently affects extranodal sites while endobronchial involvement is uncommon.Only 5 cases of MCL with endobronchial involvement have been previously reported.CASE SUMMARY A 56-year-old male patient arrived at the hospital complaining of a dry cough.A mass in the right upper lobe of the lung was revealed in Chest computed tomography(CT).Right lung hilar and mediastinal lymphadenopathies were also found by CT scan.The patient was diagnosed with central-type lung cancer with multiple lymph node metastases after positron emission tomography(PET)CT scan examination.The fiber optic bronchoscope examination revealed diffuse neoplasm infiltration in the inlet of the right up lobar bronchus.The patient was finally diagnosed with MCL based on the bronchoscopy and mediastinoscopy biopsy results.CONCLUSION MCL could masquerade as central type lung cancer.An endobronchial biopsy examination is necessary for the early diagnosis of MCL.

摘要： BACKGROUND Adult-onset Ménétrier’s disease is strongly associated with Helicobacter pylori(H.pylori)infection and an elevated risk of carcinogenesis.Cases of early-stage gastric cancer developed in H.pylori-negative Ménétrier’s disease are extremely rare.We report a case of early gastric cancer in H.pylori-negative Ménétrier’s disease that was curatively resected with endoscopic submucosal dissection(ESD).CASE SUMMARY A 60-year-old woman was referred to our hospital after her medical examination detected anemia.Contrast-enhanced upper gastrointestinal(UGI)radiography revealed translucency of the nodule-aggregating surface with giant rugae.Blood tests showed hypoproteinemia and were negative for serum H.pylori immunoglobulin G antibodies.The 99mTc-DTPA-human serum albumin scintigraphy showed protein loss from the stomach.UGI endoscopy showed a 40-mm protruding erythematous lesion on giant rugae of the greater curvature of lower gastric body,suggesting early-stage gastric cancer due to Ménétrier’s disease.En bloc resection with ESD was performed for diagnosis and treatment.Histology of ESD showed well-differentiated tubular adenocarcinoma.The cancer was confined to the mucosa,and complete curative resection was achieved.Foveolar hyperplasia and atrophy of the gastric glands were observed in non-tumor areas,histologically corresponding to Ménétrier’s disease.Three years after ESD,gastric cancer had not recurred,and Ménétrier’s disease remained in remission with spontaneous regression of giant gastric rugae.CONCLUSION Complete curative resection was achieved through ESD in a patient with earlystage gastric cancer and H.pylori-negative Ménétrier’s disease.

摘要： BACKGROUND Diffuse large B-cell lymphoma,which accounts for about approximately 30%to 40%of non-Hodgkin's lymphomas,is the most common type and is a class of aggressive B-cell lymphomas.However,diffuse large B-cell lymphomas primary to the adrenal gland are rare.CASE SUMMARY A 73-year-old man was admitted with abdominal pain and fatigue.After admission,enhanced adrenal computed tomography indicated irregular masses on both adrenal glands,with the larger one on the left side,approximately 8.0 cm×4.3 cm in size.The boundary was irregular,and surrounding tissues were compressed.No obvious enhancement was observed in the arterial phase.Resection of the left adrenal gland was performed.Pathological diagnosis revealed diffuse large B-cell lymphoma.After surgery,the patient received RCHOP immunochemotherapy.During the fourth immunochemotherapy,patient condition deteriorated,and he eventually died of respiratory failure.CONCLUSION R-CHOP is the conventional immunochemotherapy for primary adrenal diffuse large B-cell lymphoma.Surgery is mainly used to diagnose the disease.Hence,the ideal treatment plan remains to be confirmed.

摘要： BACKGROUND Autosomal recessive spinocerebellar ataxia type 4(SCAR4)is a type of SCA that is a group of hereditary diseases characterized by gait ataxia.The main clinical features of SCAR4 are progressive cerebellar ataxia,pyramidal signs,neuropathy,and macrosaccadic intrusions.To date,many gene dysfunctions have been reported to be associated with SCAR4.CASE SUMMARY Here,we report a novel compound heterozygous mutation,c.3288delA(p.Asp1097-ThrfsTer6),in the VPS13D gene in a young female Chinese patient.The patient found something wrong with her legs about 10 years ago and presented with the typical characteristics of SCAR4 when she came to the hospital,including ataxia,neuropathy,and positive pyramidal signs.She was then diagnosed with SCAR4 and went home with symptomatic schemes.CONCLUSION SCAR4 is a hereditary disease characterized by ataxia,pyramidal signs,neuropathy,and macrosaccadic intrusions.We report a novel compound heterozygous mutation,c.3288delA(p.Asp1097ThrfsTer6),in the VPS13D gene,which enriches the gene mutation spectrum and provides additional information about SCAR4.

摘要： BACKGROUND Acute intermittent porphyria(AIP)is an inherited disorder of porphyrin metabolism with a worldwide distribution and a prevalence ranging from 1 to 9 per million population.AIP is caused by an autosomal dominant-inherited mutation of low penetrance resulting in a deficiency of porphobilinogen deaminase(PBGD)activity.Acute attacks are provoked by stressors such as certain medications,alcohol,and infection.We herein present the first case report of AIP detected in a post-renal transplant patient.CASE SUMMARY The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephropathy.He subsequently developed diabetes mellitus which required insulin therapy.He had been treated in the recent past with local mesalamine for proctitis.He presented with classic but common symptoms of AIP including intense abdominal pain,hypertension,and anxiety.He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained.His urinary postprandial blood glucose level was 60 mg/24 h(normal,<2 mg/24 h).He was placed on a high carbohydrate diet,and his symptoms slowly improved.CONCLUSION This case report describes a common presentation of an uncommon disease,in which post-transplant complications and medications may have contributed to precipitating the previously undiagnosed AIP.We hypothesize that the lowcarbohydrate diet and insulin with which our patient was treated may have led to the attacks of AIP.Alternatively,our patient’s mesalamine treatment for proctitis may have led to an acute AIP crisis.A high index of suspicion is needed to consider the diagnosis of a heme synthesis disorder,which presents with the common symptoms of abdominal pain,high blood pressure,and anxiety.

摘要： BACKGROUND Serrated polyposis syndrome(SPS)is a relatively rare disease that is characterized by multiple serrated lesions/polyps.Very little is known regarding the extracolonic cancers associated with SPS.The genetic basis of the process remains unknown.CASE SUMMARY A 67-year-old male patient initially presented with belching and abdominal distension for a year as well as diarrhea for over 2 mo.The patient underwent colonoscopy and was diagnosed with serrated polyposis syndrome.Half a year later,a gastroscopy was performed during the postoperative re-examination to screen for other lesions of the upper gastrointestinal tract.An elevated lesion was detected in the anterior wall of the gastric antrum.Curative en bloc resection of the lesion was achieved via endoscopic submucosal dissection.The pathological result was high-grade dysplasia with focal intramucosal carcinoma.Exome sequencing was performed for the patient and five gastric cancer-associated variants(methylenetetrahydrofolate reductase,metaxin 1,coiled-coil domain containing 6,glutamate ionotropic receptor delta type subunit 1,and aldehyde dehydrogenase 1)were identified.CONCLUSION This paper reports a case that presented with both SPS and early gastric cancer.Genetic mutations that were potentially responsible for this condition were sought by exome sequencing.

摘要： BACKGROUND Diffuse lamellar keratitis(DLK)is a complication of laser-assisted in situ keratomileusis(LASIK).This condition can also develop after small-incision lenticule extraction(SMILE)with a distinctive appearance.We report the case involving a female patient with delayed onset DLK accompanied by immunoglobulin A(IgA)nephropathy.CASE SUMMARY A 22-year-old woman was referred to our department for DLK and a decline in vision 1 mo after undergoing SMILE.The initial examination showed grade 2 DLK in the flap involving the central visual axis of the right eye.She was immediately administered with a large dose of a topical steroid for 30 d.However,the treatment was ineffective.Her vision deteriorated from 10/20 to 6/20,and DLK gradually worsened from grade 2 to 4.Eventually,interface washout was performed,after which her vision improved.DLK completely disappeared 2 mo after washout.Six months after SMILE,the patient was diagnosed with IgA nephropathy due to a 4-year history of interstitial hematuria.CONCLUSION DLK is a typical complication of LASIK but can also develop after SMILE.Topical steroid therapy was ineffective in our patient,and interface washout was required.IgA nephropathy could be one of the factors contributing to the development of delayed DLK after SMILE.

摘要： BACKGROUND Relapsing polychondritis(RP)is a rare inflammatory disease involving the systemic cartilage,such as the auricle,trachea,and bronchiole,among others.A patient with RP shows variable symptoms based on the involved cartilage.CASE SUMMARY A 72-year-old Japanese woman with a history of redness of the bilateral auricles for 3 d was referred to a clinician.The clinician prescribed antibiotics to the patient;however,the symptoms worsened;thus,she was referred to our hospital.Head and neck magnetic resonance imaging(MRI)showed edematous auricle with remarkable contrast,fluid collection in the bilateral mastoid cells,suggesting otitis media.The eustachian tube(ET)on the right side was also edematous with contrast enhancement.The patient was suspected of RP according to the diagnostic criteria.A biopsy of the auricular cartilage was performed by an otorhinolaryngologist,confirming pathological proof of RP.Treatments with steroids were immediately administered thereafter.CONCLUSION We highlight a rare case of RP with radiologically confirmed involvement of ET in the MRI.

摘要： BACKGROUND There are few reports of a fractured esophageal self-expanding metallic stent(SEMS)and the lasso retrieval technique,forming a guidewire loop by directing the guidewire back up the external stent for retrieval.CASE SUMMARY A 74-year-old man complained of dysphagia approximately 6 mo after radical resection of esophageal cancer.Benign anastomotic stenosis was diagnosed,and a 20 mm in diameter and 60 mm in length esophageal covered SEMS was inserted after repeated balloon dilatation.About 13.5 mo after stenting,dysphagia recurred and esophagography showed severe stenosis above the proximal stent and stent removal was performed.One-third of the stent was removed and the fractured stent remained in the proximal esophagus.A suction tube was introduced through the guidewire and then the guidewire was grabbed,acting like a“lasso”on tightening.The remaining fractured stent was successfully removed by slowly pulling back the guidewire,with no fragments of stent wires retained.CONCLUSION The guidewire lasso technique is a simple,effective method of removing esophageal SEMS in rare cases of stent fracture.

摘要： BACKGROUND Neuroendocrine carcinoma(NEC)of the esophagus is rare and highly aggressive,and lacks biological features.Currently,there are no established standard treatments for this cancer.In this report,we describe a patient with large-cell NEC of the esophagus who was successfully treated using endoscopic submucosal dissection(ESD)combined with adjuvant chemotherapy.CASE SUMMARY A 55-year-old woman presented with intermittent mild dysphagia for 2 mo.Gastroscopy revealed a disc-shaped protruding lesion about 18 mm×18 mm in size on the upper esophagus.Endoscopic ultrasonography demonstrated that the bulged lesion originated from the muscularis mucosa.We assessed en bloc resections using ESD for therapeutic diagnosis to devise a safe and appropriate treatment.Histopathological examination revealed a poorly differentiated neoplasm comprising of large cells with marked nuclear atypia and multifocal necrosis.In addition,the specimens had a negative horizontal margin and vertical margins.Depth of invasion was classified as submucosa 2(SM2)without lymphovascular invasion.These histopathological results were consistent with a diagnosis of esophageal NEC,large cell type.Adjuvant therapy has been considered for ESD patients with SM2/SM3 lesions and patients with poorly differentiated lesions.After comprehensive consideration,we initiated combination treatment,i.e.,ESD plus adjuvant chemotherapy.The patient remained disease-free at the 2-year follow-up.CONCLUSION En bloc resection approach using ESD may play a vital role as a diagnostic and therapeutic modality for esophageal NEC.