BACKGROUND Wernicke encephalopathy is a neurological disorder caused by thiamine deficiency,commonly seen in alcoholic populations but also involving other circumstances that may lead to thiamine deficiency.The recogn...BACKGROUND Wernicke encephalopathy is a neurological disorder caused by thiamine deficiency,commonly seen in alcoholic populations but also involving other circumstances that may lead to thiamine deficiency.The recognition of Wernicke encephalopathy often depends on clinicians’keen ability to detect its typical triad of features;however,most cases do not present with the full constellation of signs,which complicates the timely identification of Wernicke encephalopathy.CASE SUMMARY This case report describes a patient with nasopharyngeal carcinoma who developed abnormal ocular function and ataxia following concurrent chemoradiotherapy,without a history of alcohol abuse.With the aid of radiological examinations,he received a timely diagnosis and treatment;however,his symptoms did not fully resolve during follow-up.CONCLUSION For patients with malignant tumors exhibiting neurological symptoms,clinicians should consider the possibility of Wernicke encephalopathy and provide prophylactic thiamine therapy.展开更多
BACKGROUND Superior mesenteric artery(SMA)syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta(SMA-Ao).Although the left lateral recumbent position is considered effe...BACKGROUND Superior mesenteric artery(SMA)syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta(SMA-Ao).Although the left lateral recumbent position is considered effective in the treatment of SMA syndrome,individual variations in the optimal patient position have been noted.In this report,we present two elderly cases of SMA syndrome that exhibited rapid recovery due to ultrasonographic dynamic evaluation of the optimal position for each patient.CASE SUMMARY Case 1:A 90-year-old man with nausea and vomiting.Following diagnosis of SMA syndrome by computed tomography(CT),ultrasonography(US)revealed the SMA-Ao distance in the supine position(4 mm),which slightly improved in the lateral position(5.7–7.0 mm)without the passage of duodenal contents.However,in the sitting position,the SMA-Ao distance was increased to 15 mm accompanied by improved content passage.Additionally,US indicated enhanced passage upon abdominal massage on the right side.By day 2,the patient could eat comfortably with the optimal position and massage.Case 2:An 87-year-old woman with vomiting.After the diagnosis of SMA syndrome and aspiration pneumonia by CT,dynamic US confirmed the optimal position(SMA-Ao distance was improved to 7 mm in forward-bent position,whereas it remained at 5 mm in the supine position).By day 7 when her pneumonia recovered,she could eat with the optimal position.CONCLUSION The optimal position for SMA syndrome varies among individuals.Dynamic US appears to be a valuable tool in improving patient outcomes.展开更多
BACKGROUND Adult-onset Still’s disease(AOSD)is a rare systemic inflammatory disorder characterized by fever,arthritis,skin rash,and systemic symptoms.The etiology of AOSD is unknown;however,it is thought to be relate...BACKGROUND Adult-onset Still’s disease(AOSD)is a rare systemic inflammatory disorder characterized by fever,arthritis,skin rash,and systemic symptoms.The etiology of AOSD is unknown;however,it is thought to be related to immune dysregulation.Although a rare disease,AOSD can significantly impact reproductive health,particularly during pregnancy.This case study assesses the implications of pregnancy in a patient with AOSD,as well as the potential for heredity of the disease.Neonatal hemophagocytic lympho-histiocytosis(HLH)is a rare and lifethreatening disorder characterized by hyperinflammation and uncontrolled activation of immune cells,leading to multiple organ dysfunction.This case report aimed to introduce neonatal HLH from a mother with AOSD.CASE SUMMARY This case study presents a 29-year-old female with AOSD who became pregnant and gave birth to a premature infant who was diagnosed with neonatal HLH.AOSD can significantly impact pregnancy and childbirth,as it may become more severe during pregnancy,with an increased risk of fetal loss and preterm birth.The management of AOSD during pregnancy involves the use of nonsteroidal anti-inflammatory drugs and glucocorticoids,as well as immunosuppressive agents in severe cases.However,the use of immunosuppressive agents during pregnancy may be associated with potential risks to the fetus.The hereditary implications of AOSD are unclear;however,available evidence suggests that genetic factors may play a role in the disease development.CONCLUSION AOSD can have significant implications for pregnancy and childbirth,including an increased risk of fetal loss and preterm birth.Neonatal HLH,a complication of AOSD in pregnancy,requires prompt diagnosis and management.Women with AOSD who are considering pregnancy should discuss their options with their healthcare provider and develop a management plan that addresses the potential risks to both mother and fetus.展开更多
BACKGROUND Gynaecologists should be aware of a rare obstructive Mullerian duct abnormality like Robert’s uterus and perform further surgery when necessary.CASE SUMMARY We report a 41-year-old mother of two children w...BACKGROUND Gynaecologists should be aware of a rare obstructive Mullerian duct abnormality like Robert’s uterus and perform further surgery when necessary.CASE SUMMARY We report a 41-year-old mother of two children with Robert’s uterus who was examined and treated by laparoscopy and hysteroscopy.Unlike the existing cases reported in the literature,this patient had a late onset of Robert’s uterus symptoms.Due to right tubal ectopic pregnancy 3 years previously,the patient was treated with right salpingectomy and left tubal ligation but suffered aggravated left lower abdominal pain.She was examined and treated by laparoscopy and hysteroscopy,and is completely asymptomatic at 5-year followup.CONCLUSION The typical obstructive Mullerian abnormality requires further surgery.Combined laparoscopy and hysteroscopy is an effective,minimally invasive technique with better recovery outcomes than traditional transabdominal procedures.展开更多
BACKGROUND Castleman's disease(CD)is a rare lymphoproliferative,emulating both benign and malignant diseases.The diagnosis of CD is formulated upon the combination of clinical and laboratory criteria and ultimatel...BACKGROUND Castleman's disease(CD)is a rare lymphoproliferative,emulating both benign and malignant diseases.The diagnosis of CD is formulated upon the combination of clinical and laboratory criteria and ultimately confirmed by histopathological assessment.Due to its rarity,CD presents a challenge in treatment selection,with available options encompassing surgery,chemotherapy,and autologous stem cell transplantation.However,studies suggest that surgical resection of the lesion is the most effective treatment modality,especially for unicentric CD(UCD).CASE SUMMARY Here,we describe the case of a 25-year-old woman who presented with painless left thigh swelling for 10 wk.She had been following a low-fat diet to lose weight and had normal laboratory results.Magnetic resonance imaging revealed a wellcircumscribed,demarcated cystic lesion located in the left inguinal region with eccentrically positioned signal void vascular structures,measuring 4.3 cm×3 cm×3.2 cm,likely of lymphoid origin.The patient underwent surgical resection,and the final histopathology showed a vascular proliferation and hyalinization of the vessel walls,along with atretic germinal centers traversed by penetrating vessels,consistent with CD.The patient was discharged home one day after the procedure in good condition,with a follow-up appointment scheduled in our outpatient clinic.CONCLUSION Although surgical resection is the mainstay for UCD,a multidisciplinary approach is needed due the lack of specific diagnostic features and treatments.展开更多
BACKGROUND Tumoral calcinosis is a condition characterized by deposits of calcium phosphate crystals in extra-articular soft tissues,occurring in hemodialysis patients.Calcium phosphate crystals are mainly composed of...BACKGROUND Tumoral calcinosis is a condition characterized by deposits of calcium phosphate crystals in extra-articular soft tissues,occurring in hemodialysis patients.Calcium phosphate crystals are mainly composed of hydroxyapatite,which is highly infilt-rative to tissues,thus making complete resection difficult.An adjuvant method to remove or resolve the residual crystals during the operation is necessary.CASE SUMMARY A bicarbonate Ringer’s solution with bicarbonate ions(28 mEq/L)was used as the adjuvant.After resecting calcium phosphate deposits of tumoral calcinosis as much as possible,while filling with the solution,residual calcium phosphate deposits at the pseudocyst wall can be gently scraped by fingers or gauze in the operative field.A 49-year-old female undergoing hemodialysis for 15 years had swelling with calcium deposition for 2 years in the shoulders,bilateral hip joints,and the right foot.A shoulder lesion was resected,but the calcification remained and early re-deposition was observed.Considering the difficulty of a complete rection,we devised a bicarbonate dissolution method and excised the foot lesion.After resection of the calcified material,the residual calcified material was washed away with bicarbonate Ringer’s solution.CONCLUSION The bicarbonate dissolution method is a new,simple,and effective treatment for tumoral calcinosis in hemodialysis patients.展开更多
BACKGROUND Meckel’s diverticulum is a common congenital malformation of the small intestine,with the three most common complications being obstruction,per-foration,and inflammation.To date,only a few cases have been ...BACKGROUND Meckel’s diverticulum is a common congenital malformation of the small intestine,with the three most common complications being obstruction,per-foration,and inflammation.To date,only a few cases have been reported world-wide.In children,the clinical symptoms are similar to appendicitis.As most of the imaging features are nonspecific,the preoperative diagnosis is not precise.In addition,the clinical characteristics are highly similar to pediatric acute appendicitis,thus special attention is necessary to distinguish Meckel’s diver-ticulum from pediatric appendicitis.Patients with poor disease control should undergo laparoscopic exploration to avoid serious complications,including intestinal necrosis,intestinal perforation and gastrointestinal bleeding.CASE SUMMARY This report presents three cases of appendicitis in children combined with intestinal obstruction,which was caused by fibrous bands(ligaments)arising from the top part of Meckel's diverticulum,diverticular perforation,and diver-ticular inflammation.All three patients,aged 11-12 years,had acute appendicitis as their initial clinical presentation.All were treated by laparoscopic surgery with a favorable outcome.A complete dataset including clinical presentation,dia-gnostic imaging,surgical information,and histopathologic findings was also provided.CONCLUSION Preoperative diagnosis of Meckel’s diverticulum and its complications is challenging because its clinical signs and complications are similar to those of appendicitis in children.Laparoscopy combined with laparotomy is useful for diagnosis and treatment.展开更多
BACKGROUND Perception is frequently impaired in patients with Alzheimer’s disease(AD).Several patients exhibit visual or haptic hallucinations.CASE SUMMARY A 71-year-old Chinese man presented with visual and haptic h...BACKGROUND Perception is frequently impaired in patients with Alzheimer’s disease(AD).Several patients exhibit visual or haptic hallucinations.CASE SUMMARY A 71-year-old Chinese man presented with visual and haptic hallucinations he had been experiencing for 2 weeks.The clinical manifestations were the feeling of insects crawling and biting the limbs and geison.He looked for the insects while itching and scratching,which led to skin breakage on the limbs.He was treated with topical and anti-allergic drugs in several dermatology departments without any significant improvement.After admission,the patient was administered risperidone(0.5 mg)and duloxetine(2 mg/day).One week later,the dose of risperidone was increased to 2 mg/day,and that of duloxetine was increased to 60 mg/day.After 2 weeks of treatment,the patient’s sensation of insects crawling and biting disappeared,and his mood stabilized.CONCLUSION This patient manifested psychiatric behavioral symptoms caused by AD brain atrophy.It was important to re-evaluate the patient’s cognitive-psychological status when the patient repeatedly went to the hospital for treatment.Follow-up attention to cognitive function and the consideration of perceptual deficits as early manifestations of AD should be considered.展开更多
BACKGROUND Duodenal Brunner's gland hyperplasia(BGH)is a therapeutic target when complications such as bleeding or gastrointestinal obstruction occur or when malignancy cannot be ruled out.Herein,we present a case...BACKGROUND Duodenal Brunner's gland hyperplasia(BGH)is a therapeutic target when complications such as bleeding or gastrointestinal obstruction occur or when malignancy cannot be ruled out.Herein,we present a case of large BGH treated with endoscopic mucosal resection(EMR).CASE SUMMARY An 83-year-old woman presented at our hospital with dizziness.Blood tests revealed severe anemia,esophagogastroduodenoscopy showed a 6.5 cm lesion protruding from the anterior wall of the duodenal bulb,and biopsy revealed the presence of glandular epithelium.Endoscopic ultrasonography(EUS)demonstr-ated relatively high echogenicity with a cystic component.The muscularis propria was slightly elevated at the base of the lesion.EMR was performed without complications.The formalin-fixed lesion size was 6 cm×3.5 cm×3 cm,showing nodular proliferation of non-dysplastic Brunner's glands compartmentalized by fibrous septa,confirming the diagnosis of BGH.Reports of EMR or hot snare polypectomy are rare for duodenal BGH>6 cm.In this case,the choice of EMR was made by obtaining information on the base of the lesion as well as on the internal characteristics through EUS.CONCLUSION Large duodenal lesions with good endoscopic maneuverability and no evident muscular layer involvement on EUS may be resectable via EMR.展开更多
BACKGROUND Splenic rupture associated with Behçet’s syndrome(BS)is extremely rare,and there is no consensus on its management.In this case report,a patient with BSassociated splenic rupture was successfully trea...BACKGROUND Splenic rupture associated with Behçet’s syndrome(BS)is extremely rare,and there is no consensus on its management.In this case report,a patient with BSassociated splenic rupture was successfully treated with splenic artery embolization(SAE)and had a good prognosis after the intervention.CASE SUMMARY The patient was admitted for pain in the left upper abdominal quadrant.He was diagnosed with splenic rupture.Multiple oral and genital aphthous ulcers were observed,and acne scars were found on his back.He had a 2-year history of BS diagnosis,with symptoms of oral and genital ulcers.At that time,he was treated with oral corticosteroids for 1 month,but the symptoms did not alleviate.He underwent SAE to treat the rupture.On the first day after SAE,the patient reported a complete resolution of abdominal pain and was discharged 5 d later.Three months after the intervention,a computed tomography examination showed that the splenic hematoma had formed a stable cystic effusion,suggesting a good prognosis.CONCLUSION SAE might be a good choice for BS-associated splenic rupture based on good surgical practice and material selection.展开更多
BACKGROUND Behcet's disease(BD)is an inflammatory disorder known for various symptoms,including oral and genital ulcers and ocular inflammation.Panuveitis,a severe eye condition,is rare as the first sign of BD.CAS...BACKGROUND Behcet's disease(BD)is an inflammatory disorder known for various symptoms,including oral and genital ulcers and ocular inflammation.Panuveitis,a severe eye condition,is rare as the first sign of BD.CASE SUMMARY We present an unusual case of a 30-year-old man who developed panuveitis after receiving the mRNA-based coronavirus disease 2019(COVID-19)vaccine(Moderna).Laboratory tests ruled out infections,but he had a positive HLA-B51 result and a history of genital ulcer and oral ulcers,leading to a BD diagnosis.Treatment with corticosteroids improved his condition.Interestingly,he had another episode of panuveitis after the second mRNA vaccine dose,which also responded to corticosteroids.CONCLUSION This case highlights the rare onset of BD following mRNA COVID-19 vaccination,suggesting a potential link between these vaccines and BD's eye symptoms,emphasizing the importance of quick treatment in similar cases.展开更多
BACKGROUND Genetic factors of chronic intestinal ulcers are increasingly garnering attention.We present a case of chronic intestinal ulcers and bleeding associated with mu-tations of the activin A receptor type II-lik...BACKGROUND Genetic factors of chronic intestinal ulcers are increasingly garnering attention.We present a case of chronic intestinal ulcers and bleeding associated with mu-tations of the activin A receptor type II-like 1(ACVRL1)and phospholipase A2 group IVA(PLA2G4A)genes and review the available relevant literature.CASE SUMMARY A 20-year-old man was admitted to our center with a 6-year history of recurrent abdominal pain,diarrhea,and dark stools.At the onset 6 years ago,the patient had received treatment at a local hospital for abdominal pain persisting for 7 d,under the diagnosis of diffuse peritonitis,acute gangrenous appendicitis with perforation,adhesive intestinal obstruction,and pelvic abscess.The surgical treat-ment included exploratory laparotomy,appendectomy,intestinal adhesiolysis,and pelvic abscess removal.The patient’s condition improved and he was dis-charged.However,the recurrent episodes of abdominal pain and passage of black stools started again one year after discharge.On the basis of these features and results of subsequent colonoscopy,the clinical diagnosis was established as in-flammatory bowel disease(IBD).Accordingly,aminosalicylic acid,immunotherapy,and related symptomatic treatment were administered,but the symptoms of the patient did not improve significantly.Further investigations revealed mutations in the ACVRL1 and PLA2G4A genes.ACVRL1 and PLA2G4A are involved in angiogenesis and coagulation,respectively.This suggests that the chronic intestinal ulcers and bleeding in this case may be linked to mutations in the ACVRL1 and PLA2G4A genes.Oral Kangfuxin liquid was administered to promote healing of the intestinal mucosa and effectively manage clinical symptoms.CONCLUSION Mutations in the ACVRL1 and PLA2G4A genes may be one of the causes of chronic intestinal ulcers and bleeding in IBD.Orally administered Kangfuxin liquid may have therapeutic potential.展开更多
Small bowel adenocarcinomas are remarkable for their rarity, difficult diagnosis and poor prognosis. Here we report an unusual case of a 33-year-old patient in whom infiltrative adenocarcinoma of the small bowel was d...Small bowel adenocarcinomas are remarkable for their rarity, difficult diagnosis and poor prognosis. Here we report an unusual case of a 33-year-old patient in whom infiltrative adenocarcinoma of the small bowel was diagnosed after a 10-year history of Crohn's disease. In most previously reported cases, detection of Crohn's disease was subsequent tothat of carcinoma of the small bowel or the patients involved had an even longer history of the disease. Our literature review suggests that the risk of small bowel adenocarcinoma is higher in patients with Crohn's disease than in the overall population. We present details on epidemiology as well as clinical and diagnostic aspects of this rare disease entity.展开更多
BACKGROUND Fistulas are common complications of Crohn’s disease(CD).Gastrocolic fistulas(GFs)are rare,occult and potentially life-threatening complications.Few cases of GFs have been reported.Oral agent contrast-enha...BACKGROUND Fistulas are common complications of Crohn’s disease(CD).Gastrocolic fistulas(GFs)are rare,occult and potentially life-threatening complications.Few cases of GFs have been reported.Oral agent contrast-enhanced ultrasound(OA-CEUS)is a novel technique of ultrasound(US)for gut.Contrast agent made by Chinese yam is taken orally to dilate the lumen of the upper gastrointestinal tract.Thus,the impediment of gas inside gastrointestinal tract is removed and a good acoustic window is provided for gastroin-testinal tract scanning.This paper describes a case of GF secondary to CD detected by OA-CEUS when it was missed by endoscopy and computed tomography(CT).To our knowledge,this is the first report of GF secondary to CD detected by OA-CEUS up to date.CASE SUMMARY A 29-year-old woman with a 6-year history of CD was admitted to our hospital for abdominal pain and diarrhea for 5 months without obvious predisposing causes.Initial gastroscopy failed to show any evidence of lesions.Colonoscopy revealed multiple erosions,mucosal nodularity,linear ulcers and a cobblestone appearance.A CT scan of her abdomen showed a complex multilocular structure adherent to the greater curvature of the stomach in her left lower abdomen,with fluid,gas and significant surrounding inflammation.CT also demonstrated an abdominal abscess,which was later treated with US-guided drainage.Colonoscopy,gastroscopy and CT missed the presence of a GF.OA-CEUS was performed.A contrast agent made from Chinese yam was taken orally to dilate the lumen of the gastrointestinal tract.A good acoustic window was provided for gastrointestinal tract scanning and the impediment of gas inside the gastrointestinal tract was removed.With the aid of the“window”,a canal with hypoechoic wall was identified connecting the greater curvature of stomach to the splenic colon flexure in free sections.We also observed the hyperechoic gas flowing dynamically inside the canal.Thus,a GF was suspected.US is the first imaging modality taking GF into account.At the same time,OA-CEUS identified the site of the fistula and its two orifices.Gastroscopy was performed again,revealing a small ulcer approximately 5 mm in diameter,which was considered as an orifice.On the basis of OA-CEUS and other examinations,the patient was diagnosed with a GF secondary to CD.Then,laparoscopic exploration,partial stomach resection,transverse colostomy and abdominal abscess drainage were performed.The patient recovered uneventfully.CONCLUSION GFs are rare,occult and potentially life-threatening complications in CD.US is one of the first-line modalities to evaluate CD and its complications.OA-CEUS,a novel technique of US for gut,may be helpful in reducing the possibility of a missed diagnosis of GF.展开更多
BACKGROUND Primary intestinal lymphangiectasia(PIL),first described in 1961,is a rare disorder of unknown etiology resulting in protein-losing enteropathy.The disease is characterized by dilatation and leakage of inte...BACKGROUND Primary intestinal lymphangiectasia(PIL),first described in 1961,is a rare disorder of unknown etiology resulting in protein-losing enteropathy.The disease is characterized by dilatation and leakage of intestinal lymph vessels leading to hypoalbuminemia,hypogammaglobulinemia,and lymphopenia.Since the severity and location of lymph vessels being affected can vary considerably,the range of associated symptoms is wide from mild lower-limb edema to generalized edema,abdominal and/or pleural effusion,and recurrent diarrhea,among others.Although usually developing in early childhood,we present the case of a 34-yearold woman with PIL.Moreover,we performed a literature review systematically assessing clinical presentation,and provide a practical approach to facilitate diagnosis and therapy of PIL in adults.CASE SUMMARY Our patient presented with unspecific symptoms of abdominal discomfort,fatigue,nausea,and recurrent edema of the lower limbs.Interestingly,a striking collinearity of clinical symptoms with female hormone status was evident.Additionally,polyglobulia,hypoalbuminemia,hypogammaglobulinemia,and transient lymphocytopenia were evident.Due to suspicion of a bone marrow disease,an extensive diagnostic investigation was carried out excluding secondary causes of polyglobulinemia and hypoalbuminemia.The diagnosis of primary intestinal lymphangiectasia was established after 22 wk by histological analysis of biopsy samples obtained via enteroscopy.Consecutively,the patient was put on a high-protein and low-fat diet with medium-chain triglycerides supplementation leading to significant improvement of clinical symptoms until 2 years of follow-up.CONCLUSION PIL can be the reason for cryptogenic hypoalbuminemia,hypogammaglobulinemia,and lymphopenia in adulthood.Due to difficulty in correct diagnosis,treatment initiation is often delayed despite being effective and welltolerated.This leads to a significant disease burden in affected patients.PIL is increasingly been recognized in adults since the majority of case reports were published within the last 10 years,pointing towards an underestimation of the true prevalence.The association with female hormone status warrants further investigation.展开更多
BACKGROUND Bouveret´s syndrome is defined as a gastric outlet obstruction after passage of a gallstone through a fistula into the duodenum.Due to its rarity,the diagnosis of Bouveret’s syndrome is often delayed ...BACKGROUND Bouveret´s syndrome is defined as a gastric outlet obstruction after passage of a gallstone through a fistula into the duodenum.Due to its rarity,the diagnosis of Bouveret’s syndrome is often delayed and causes a high morbidity and mortality rate.CASE SUMMARY A 93-year-old female presented with worsening pain in the right upper abdomen and vomiting.A gastroscopy revealed fluid retention caused by a massive obstructive stone in the bulbus.Endoscopic laser lithotripsy of the impacted stone was planned after multidisciplinary consultation.A Dornier Medilas H Solvo lithotripsy 350μm laser fiber(10 Hz,2 Joules)was used to disintegrate the stone into smaller pieces.The patient recovered completely.CONCLUSION A mechanical obstruction due to a gallstone that has entered the gastrointestinal tract is a complication that appears in 0.3%-0.5%of patients who have cholelithiasis.Stones larger than 2 cm can become impacted in the digestive tract,which occurs mostly in the terminal ileum.In approximately 1%-3%of cases,the stones cause obstruction in the duodenum.This phenomenon is called Bouveret’s syndrome.As this condition is mostly observed in elderly individuals with multiple comorbidities,treatment by an open surgical approach is unsuitable.Endoscopic removal is the preferred technique.The benefit of using laser lithotripsy is the precise targeting of energy onto the stone with minimal tissue injury.Endoscopic laser lithotripsy is a safe and feasible treatment option for Bouveret’s syndrome.展开更多
BACKGROUND Hypoganglionosis is a rare condition that most often presents with abnormal gastrointestinal transit and usually arises in early childhood or adolescence. Two types have been described(Type I and Type II). ...BACKGROUND Hypoganglionosis is a rare condition that most often presents with abnormal gastrointestinal transit and usually arises in early childhood or adolescence. Two types have been described(Type I and Type II). The adult-onset form(acquired hypoganglionosis) is extremely uncommon and is thought to arise due to cellular remodelling as a result of chronic inflammation. It differs from Hirschprung's disease in that there is a reduction in ganglion cells in the colonic neural plexuses as opposed to being completely absent.CASE SUMMARY A 31 year-old male presented to hospital with recurrent abdominal pain and vomiting over thirteen months. Abdominal computed tomography scans demonstrated thickening and stranding affecting the transverse, descending and sigmoid colon. Endoscopic appearances were non-specific but confirmed a mixed picture of mucosal inflammation and necrosis in various stages of healing.Numerous investigations were performed to elucidate an underlying aetiology but neither an infective nor ischaemic cause could be proven. Biopsy features were not typical of inflammatory bowel disease. Due to persistence of his symptoms and failure of medical management, a segmental colectomy was performed. Histological examination of the specimen revealed an unexpected finding of segmental hypoganglionosis. Complete surgical excision of the diseased segment of colon was curative and since his operation the patient has had no recurrence of symptoms requiring hospitalisation.CONCLUSION Our case serves to raise awareness of acquired hypoganglionosis as a rare condition that can result from chronic colitis.展开更多
BACKGROUND Madelung’s disease,also known as multiple symmetrical lipomatosis,is a rare,underrecognized disorder of fat metabolism that results in unusual accumulation of subcutaneous fat deposits around the neck,shou...BACKGROUND Madelung’s disease,also known as multiple symmetrical lipomatosis,is a rare,underrecognized disorder of fat metabolism that results in unusual accumulation of subcutaneous fat deposits around the neck,shoulders,upper arms,trunk,hips,and upper thighs.Our case demonstrates the importance of differential diagnosis and the value of a superb microvascular imaging technique for suspecting and confirming Madelung’s disease.Timely diagnosis and alcohol abstinence could prevent the progression of growing fatty masses and prevent surgery.CASE SUMMARY A 62-year-old male was admitted to the Rheumatology center complaining of symmetric subcutaneous tumors in the area of the parotid and submandibular salivary glands,small soft masses in the occiput and upper third of the forearm,rashes on calves.A high titer of rheumatoid factor and low concentrations of serum complements were detected.The high-end ultrasound and magnetic resonance imaging examinations of all affected areas of the soft tissues showed predominantly adipose tissue(lipomas)without suspicion of liposarcoma.The biopsy from the small salivary gland revealed no pathology.After evaluating the patient’s clinical presentation(symmetrical lipomatosis,cirrhosis,gynecomastia,anemia,hyperuricemia),Madelung’s disease,type I,along with the psoriatic rash and psoriatic arthritis and secondary liver cirrhosis were established.CONCLUSION Madelung’s disease consists of many co-occurring disorders imitating and overlapping with other conditions.Ultrasonography is the first choice for suspecting and confirming symmetrical lipomatosis.展开更多
BACKGROUND Esophageal schwannomas originating from Schwann cells are extremely rare esophageal tumors.They commonly occur in the upper and middle esophagus but less frequently in the lower esophagus.Herein,we report a...BACKGROUND Esophageal schwannomas originating from Schwann cells are extremely rare esophageal tumors.They commonly occur in the upper and middle esophagus but less frequently in the lower esophagus.Herein,we report a rare case of a large lower esophageal schwannoma misdiagnosed as a leiomyoma.We also present a brief literature review on lower esophageal schwannomas.CASE SUMMARY A 62-year-old man presented with severe dysphagia lasting 6 mo.A barium esophagogram showed that the lower esophagus was compressed within approximately 5.5 cm.Endoscopy revealed the presence of a large submucosal protuberant lesion in the esophagus at a distance of 32-38 cm from the incisors.Endoscopic ultrasound findings demonstrated a 4.5 cm×5.0 cm hypoechoic lesion.Chest computed tomography revealed a mass of size approximately 53 mm×39 mm×50 mm.Initial tests revealed features indicative of leiomyoma.After multidisciplinary discussions,the patient underwent a video-assisted thoracoscopic partial esophagectomy.Further investigation involving immunohistochemical examination confirming palisading spindle cells as positive for S100 and Sox10 led to the final diagnosis of a lower esophageal schwannoma.There was no tumor recurrence or metastasis during follow-up.CONCLUSION The final diagnosis of esophageal schwannoma requires histopathological and immunohistochemical examination.The early appropriate surgery favors a remarkable prognosis.展开更多
BACKGROUND Non-Hodgkin’s lymphoma(NHL)can involve extralymphatic organs,resulting in diverse clinical manifestations,especially if the endocrine organs are affected.This type of involvement can often be difficult to ...BACKGROUND Non-Hodgkin’s lymphoma(NHL)can involve extralymphatic organs,resulting in diverse clinical manifestations,especially if the endocrine organs are affected.This type of involvement can often be difficult to detect accurately.Until now,no patients with NHL and concomitant bilateral adrenal and hypothalamic involvement have been reported.The purpose of this article is to discuss the diagnosis and treatment of lymphoma with bilateral adrenal gland and hypothalamic involvement so as to help physicians avoid misdiagnosis and missed diagnosis.CASE SUMMARY We describe a case of a 52-years-old male patient with bilateral adrenal masses,who presented with a fever of unknown origin on admission.Subsequently,hypopituitarism of the anterior pituitary followed by posterior pituitary developed.18fluorine-fluorodeoxyglucose positron emission tomography/computed tomography(PET/CT)showed lesions with a high metabolism in both adrenal glands,hypothalamus,left supraclavicular lymph nodes,and other organs.The etiological diagnosis was determined based on a left supraclavicular lymph node biopsy.The patient,who eventually present with panhypopituitarism,was finally diagnosed with diffuse large B cell lymphoma with bilateral adrenal gland and hypothalamic involvement.After immunochemotherapy,glucocorticoids administration and desmopressin acetate replacement therapy,the symptoms of fever and panhypopituitarism improved,and all the lesions reduced in size.CONCLUSION This report demonstrates that,although synchronous involvement of two endocrine organs is rare in NHL,extra caution should be taken when dysfunction occurs in multiple endocrine organs.展开更多
文摘BACKGROUND Wernicke encephalopathy is a neurological disorder caused by thiamine deficiency,commonly seen in alcoholic populations but also involving other circumstances that may lead to thiamine deficiency.The recognition of Wernicke encephalopathy often depends on clinicians’keen ability to detect its typical triad of features;however,most cases do not present with the full constellation of signs,which complicates the timely identification of Wernicke encephalopathy.CASE SUMMARY This case report describes a patient with nasopharyngeal carcinoma who developed abnormal ocular function and ataxia following concurrent chemoradiotherapy,without a history of alcohol abuse.With the aid of radiological examinations,he received a timely diagnosis and treatment;however,his symptoms did not fully resolve during follow-up.CONCLUSION For patients with malignant tumors exhibiting neurological symptoms,clinicians should consider the possibility of Wernicke encephalopathy and provide prophylactic thiamine therapy.
文摘BACKGROUND Superior mesenteric artery(SMA)syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta(SMA-Ao).Although the left lateral recumbent position is considered effective in the treatment of SMA syndrome,individual variations in the optimal patient position have been noted.In this report,we present two elderly cases of SMA syndrome that exhibited rapid recovery due to ultrasonographic dynamic evaluation of the optimal position for each patient.CASE SUMMARY Case 1:A 90-year-old man with nausea and vomiting.Following diagnosis of SMA syndrome by computed tomography(CT),ultrasonography(US)revealed the SMA-Ao distance in the supine position(4 mm),which slightly improved in the lateral position(5.7–7.0 mm)without the passage of duodenal contents.However,in the sitting position,the SMA-Ao distance was increased to 15 mm accompanied by improved content passage.Additionally,US indicated enhanced passage upon abdominal massage on the right side.By day 2,the patient could eat comfortably with the optimal position and massage.Case 2:An 87-year-old woman with vomiting.After the diagnosis of SMA syndrome and aspiration pneumonia by CT,dynamic US confirmed the optimal position(SMA-Ao distance was improved to 7 mm in forward-bent position,whereas it remained at 5 mm in the supine position).By day 7 when her pneumonia recovered,she could eat with the optimal position.CONCLUSION The optimal position for SMA syndrome varies among individuals.Dynamic US appears to be a valuable tool in improving patient outcomes.
文摘BACKGROUND Adult-onset Still’s disease(AOSD)is a rare systemic inflammatory disorder characterized by fever,arthritis,skin rash,and systemic symptoms.The etiology of AOSD is unknown;however,it is thought to be related to immune dysregulation.Although a rare disease,AOSD can significantly impact reproductive health,particularly during pregnancy.This case study assesses the implications of pregnancy in a patient with AOSD,as well as the potential for heredity of the disease.Neonatal hemophagocytic lympho-histiocytosis(HLH)is a rare and lifethreatening disorder characterized by hyperinflammation and uncontrolled activation of immune cells,leading to multiple organ dysfunction.This case report aimed to introduce neonatal HLH from a mother with AOSD.CASE SUMMARY This case study presents a 29-year-old female with AOSD who became pregnant and gave birth to a premature infant who was diagnosed with neonatal HLH.AOSD can significantly impact pregnancy and childbirth,as it may become more severe during pregnancy,with an increased risk of fetal loss and preterm birth.The management of AOSD during pregnancy involves the use of nonsteroidal anti-inflammatory drugs and glucocorticoids,as well as immunosuppressive agents in severe cases.However,the use of immunosuppressive agents during pregnancy may be associated with potential risks to the fetus.The hereditary implications of AOSD are unclear;however,available evidence suggests that genetic factors may play a role in the disease development.CONCLUSION AOSD can have significant implications for pregnancy and childbirth,including an increased risk of fetal loss and preterm birth.Neonatal HLH,a complication of AOSD in pregnancy,requires prompt diagnosis and management.Women with AOSD who are considering pregnancy should discuss their options with their healthcare provider and develop a management plan that addresses the potential risks to both mother and fetus.
文摘BACKGROUND Gynaecologists should be aware of a rare obstructive Mullerian duct abnormality like Robert’s uterus and perform further surgery when necessary.CASE SUMMARY We report a 41-year-old mother of two children with Robert’s uterus who was examined and treated by laparoscopy and hysteroscopy.Unlike the existing cases reported in the literature,this patient had a late onset of Robert’s uterus symptoms.Due to right tubal ectopic pregnancy 3 years previously,the patient was treated with right salpingectomy and left tubal ligation but suffered aggravated left lower abdominal pain.She was examined and treated by laparoscopy and hysteroscopy,and is completely asymptomatic at 5-year followup.CONCLUSION The typical obstructive Mullerian abnormality requires further surgery.Combined laparoscopy and hysteroscopy is an effective,minimally invasive technique with better recovery outcomes than traditional transabdominal procedures.
文摘BACKGROUND Castleman's disease(CD)is a rare lymphoproliferative,emulating both benign and malignant diseases.The diagnosis of CD is formulated upon the combination of clinical and laboratory criteria and ultimately confirmed by histopathological assessment.Due to its rarity,CD presents a challenge in treatment selection,with available options encompassing surgery,chemotherapy,and autologous stem cell transplantation.However,studies suggest that surgical resection of the lesion is the most effective treatment modality,especially for unicentric CD(UCD).CASE SUMMARY Here,we describe the case of a 25-year-old woman who presented with painless left thigh swelling for 10 wk.She had been following a low-fat diet to lose weight and had normal laboratory results.Magnetic resonance imaging revealed a wellcircumscribed,demarcated cystic lesion located in the left inguinal region with eccentrically positioned signal void vascular structures,measuring 4.3 cm×3 cm×3.2 cm,likely of lymphoid origin.The patient underwent surgical resection,and the final histopathology showed a vascular proliferation and hyalinization of the vessel walls,along with atretic germinal centers traversed by penetrating vessels,consistent with CD.The patient was discharged home one day after the procedure in good condition,with a follow-up appointment scheduled in our outpatient clinic.CONCLUSION Although surgical resection is the mainstay for UCD,a multidisciplinary approach is needed due the lack of specific diagnostic features and treatments.
文摘BACKGROUND Tumoral calcinosis is a condition characterized by deposits of calcium phosphate crystals in extra-articular soft tissues,occurring in hemodialysis patients.Calcium phosphate crystals are mainly composed of hydroxyapatite,which is highly infilt-rative to tissues,thus making complete resection difficult.An adjuvant method to remove or resolve the residual crystals during the operation is necessary.CASE SUMMARY A bicarbonate Ringer’s solution with bicarbonate ions(28 mEq/L)was used as the adjuvant.After resecting calcium phosphate deposits of tumoral calcinosis as much as possible,while filling with the solution,residual calcium phosphate deposits at the pseudocyst wall can be gently scraped by fingers or gauze in the operative field.A 49-year-old female undergoing hemodialysis for 15 years had swelling with calcium deposition for 2 years in the shoulders,bilateral hip joints,and the right foot.A shoulder lesion was resected,but the calcification remained and early re-deposition was observed.Considering the difficulty of a complete rection,we devised a bicarbonate dissolution method and excised the foot lesion.After resection of the calcified material,the residual calcified material was washed away with bicarbonate Ringer’s solution.CONCLUSION The bicarbonate dissolution method is a new,simple,and effective treatment for tumoral calcinosis in hemodialysis patients.
文摘BACKGROUND Meckel’s diverticulum is a common congenital malformation of the small intestine,with the three most common complications being obstruction,per-foration,and inflammation.To date,only a few cases have been reported world-wide.In children,the clinical symptoms are similar to appendicitis.As most of the imaging features are nonspecific,the preoperative diagnosis is not precise.In addition,the clinical characteristics are highly similar to pediatric acute appendicitis,thus special attention is necessary to distinguish Meckel’s diver-ticulum from pediatric appendicitis.Patients with poor disease control should undergo laparoscopic exploration to avoid serious complications,including intestinal necrosis,intestinal perforation and gastrointestinal bleeding.CASE SUMMARY This report presents three cases of appendicitis in children combined with intestinal obstruction,which was caused by fibrous bands(ligaments)arising from the top part of Meckel's diverticulum,diverticular perforation,and diver-ticular inflammation.All three patients,aged 11-12 years,had acute appendicitis as their initial clinical presentation.All were treated by laparoscopic surgery with a favorable outcome.A complete dataset including clinical presentation,dia-gnostic imaging,surgical information,and histopathologic findings was also provided.CONCLUSION Preoperative diagnosis of Meckel’s diverticulum and its complications is challenging because its clinical signs and complications are similar to those of appendicitis in children.Laparoscopy combined with laparotomy is useful for diagnosis and treatment.
文摘BACKGROUND Perception is frequently impaired in patients with Alzheimer’s disease(AD).Several patients exhibit visual or haptic hallucinations.CASE SUMMARY A 71-year-old Chinese man presented with visual and haptic hallucinations he had been experiencing for 2 weeks.The clinical manifestations were the feeling of insects crawling and biting the limbs and geison.He looked for the insects while itching and scratching,which led to skin breakage on the limbs.He was treated with topical and anti-allergic drugs in several dermatology departments without any significant improvement.After admission,the patient was administered risperidone(0.5 mg)and duloxetine(2 mg/day).One week later,the dose of risperidone was increased to 2 mg/day,and that of duloxetine was increased to 60 mg/day.After 2 weeks of treatment,the patient’s sensation of insects crawling and biting disappeared,and his mood stabilized.CONCLUSION This patient manifested psychiatric behavioral symptoms caused by AD brain atrophy.It was important to re-evaluate the patient’s cognitive-psychological status when the patient repeatedly went to the hospital for treatment.Follow-up attention to cognitive function and the consideration of perceptual deficits as early manifestations of AD should be considered.
文摘BACKGROUND Duodenal Brunner's gland hyperplasia(BGH)is a therapeutic target when complications such as bleeding or gastrointestinal obstruction occur or when malignancy cannot be ruled out.Herein,we present a case of large BGH treated with endoscopic mucosal resection(EMR).CASE SUMMARY An 83-year-old woman presented at our hospital with dizziness.Blood tests revealed severe anemia,esophagogastroduodenoscopy showed a 6.5 cm lesion protruding from the anterior wall of the duodenal bulb,and biopsy revealed the presence of glandular epithelium.Endoscopic ultrasonography(EUS)demonstr-ated relatively high echogenicity with a cystic component.The muscularis propria was slightly elevated at the base of the lesion.EMR was performed without complications.The formalin-fixed lesion size was 6 cm×3.5 cm×3 cm,showing nodular proliferation of non-dysplastic Brunner's glands compartmentalized by fibrous septa,confirming the diagnosis of BGH.Reports of EMR or hot snare polypectomy are rare for duodenal BGH>6 cm.In this case,the choice of EMR was made by obtaining information on the base of the lesion as well as on the internal characteristics through EUS.CONCLUSION Large duodenal lesions with good endoscopic maneuverability and no evident muscular layer involvement on EUS may be resectable via EMR.
文摘BACKGROUND Splenic rupture associated with Behçet’s syndrome(BS)is extremely rare,and there is no consensus on its management.In this case report,a patient with BSassociated splenic rupture was successfully treated with splenic artery embolization(SAE)and had a good prognosis after the intervention.CASE SUMMARY The patient was admitted for pain in the left upper abdominal quadrant.He was diagnosed with splenic rupture.Multiple oral and genital aphthous ulcers were observed,and acne scars were found on his back.He had a 2-year history of BS diagnosis,with symptoms of oral and genital ulcers.At that time,he was treated with oral corticosteroids for 1 month,but the symptoms did not alleviate.He underwent SAE to treat the rupture.On the first day after SAE,the patient reported a complete resolution of abdominal pain and was discharged 5 d later.Three months after the intervention,a computed tomography examination showed that the splenic hematoma had formed a stable cystic effusion,suggesting a good prognosis.CONCLUSION SAE might be a good choice for BS-associated splenic rupture based on good surgical practice and material selection.
文摘BACKGROUND Behcet's disease(BD)is an inflammatory disorder known for various symptoms,including oral and genital ulcers and ocular inflammation.Panuveitis,a severe eye condition,is rare as the first sign of BD.CASE SUMMARY We present an unusual case of a 30-year-old man who developed panuveitis after receiving the mRNA-based coronavirus disease 2019(COVID-19)vaccine(Moderna).Laboratory tests ruled out infections,but he had a positive HLA-B51 result and a history of genital ulcer and oral ulcers,leading to a BD diagnosis.Treatment with corticosteroids improved his condition.Interestingly,he had another episode of panuveitis after the second mRNA vaccine dose,which also responded to corticosteroids.CONCLUSION This case highlights the rare onset of BD following mRNA COVID-19 vaccination,suggesting a potential link between these vaccines and BD's eye symptoms,emphasizing the importance of quick treatment in similar cases.
基金Supported by the Science and Technology Research Foundation of Guizhou Province,No.QKHJC-ZK[2022]YB642Science and Technology Research Foundation of Hubei Province,No.2022BCE030+2 种基金Science and Technology Research Foundation of Zunyi City,No.ZSKH-HZ(2022)344Research Project on Traditional Chinese Medicine and Ethnic Medicine Science and Technology of Guizhou Provincial Administration of Traditional Chinese Medicine,No.QZYY-2023-021Science and Technology Research Foundation of Bijie City,No.BKH[2022]8.
文摘BACKGROUND Genetic factors of chronic intestinal ulcers are increasingly garnering attention.We present a case of chronic intestinal ulcers and bleeding associated with mu-tations of the activin A receptor type II-like 1(ACVRL1)and phospholipase A2 group IVA(PLA2G4A)genes and review the available relevant literature.CASE SUMMARY A 20-year-old man was admitted to our center with a 6-year history of recurrent abdominal pain,diarrhea,and dark stools.At the onset 6 years ago,the patient had received treatment at a local hospital for abdominal pain persisting for 7 d,under the diagnosis of diffuse peritonitis,acute gangrenous appendicitis with perforation,adhesive intestinal obstruction,and pelvic abscess.The surgical treat-ment included exploratory laparotomy,appendectomy,intestinal adhesiolysis,and pelvic abscess removal.The patient’s condition improved and he was dis-charged.However,the recurrent episodes of abdominal pain and passage of black stools started again one year after discharge.On the basis of these features and results of subsequent colonoscopy,the clinical diagnosis was established as in-flammatory bowel disease(IBD).Accordingly,aminosalicylic acid,immunotherapy,and related symptomatic treatment were administered,but the symptoms of the patient did not improve significantly.Further investigations revealed mutations in the ACVRL1 and PLA2G4A genes.ACVRL1 and PLA2G4A are involved in angiogenesis and coagulation,respectively.This suggests that the chronic intestinal ulcers and bleeding in this case may be linked to mutations in the ACVRL1 and PLA2G4A genes.Oral Kangfuxin liquid was administered to promote healing of the intestinal mucosa and effectively manage clinical symptoms.CONCLUSION Mutations in the ACVRL1 and PLA2G4A genes may be one of the causes of chronic intestinal ulcers and bleeding in IBD.Orally administered Kangfuxin liquid may have therapeutic potential.
文摘Small bowel adenocarcinomas are remarkable for their rarity, difficult diagnosis and poor prognosis. Here we report an unusual case of a 33-year-old patient in whom infiltrative adenocarcinoma of the small bowel was diagnosed after a 10-year history of Crohn's disease. In most previously reported cases, detection of Crohn's disease was subsequent tothat of carcinoma of the small bowel or the patients involved had an even longer history of the disease. Our literature review suggests that the risk of small bowel adenocarcinoma is higher in patients with Crohn's disease than in the overall population. We present details on epidemiology as well as clinical and diagnostic aspects of this rare disease entity.
基金Supported by the National Nature Science Foundation of China,No.81101061.
文摘BACKGROUND Fistulas are common complications of Crohn’s disease(CD).Gastrocolic fistulas(GFs)are rare,occult and potentially life-threatening complications.Few cases of GFs have been reported.Oral agent contrast-enhanced ultrasound(OA-CEUS)is a novel technique of ultrasound(US)for gut.Contrast agent made by Chinese yam is taken orally to dilate the lumen of the upper gastrointestinal tract.Thus,the impediment of gas inside gastrointestinal tract is removed and a good acoustic window is provided for gastroin-testinal tract scanning.This paper describes a case of GF secondary to CD detected by OA-CEUS when it was missed by endoscopy and computed tomography(CT).To our knowledge,this is the first report of GF secondary to CD detected by OA-CEUS up to date.CASE SUMMARY A 29-year-old woman with a 6-year history of CD was admitted to our hospital for abdominal pain and diarrhea for 5 months without obvious predisposing causes.Initial gastroscopy failed to show any evidence of lesions.Colonoscopy revealed multiple erosions,mucosal nodularity,linear ulcers and a cobblestone appearance.A CT scan of her abdomen showed a complex multilocular structure adherent to the greater curvature of the stomach in her left lower abdomen,with fluid,gas and significant surrounding inflammation.CT also demonstrated an abdominal abscess,which was later treated with US-guided drainage.Colonoscopy,gastroscopy and CT missed the presence of a GF.OA-CEUS was performed.A contrast agent made from Chinese yam was taken orally to dilate the lumen of the gastrointestinal tract.A good acoustic window was provided for gastrointestinal tract scanning and the impediment of gas inside the gastrointestinal tract was removed.With the aid of the“window”,a canal with hypoechoic wall was identified connecting the greater curvature of stomach to the splenic colon flexure in free sections.We also observed the hyperechoic gas flowing dynamically inside the canal.Thus,a GF was suspected.US is the first imaging modality taking GF into account.At the same time,OA-CEUS identified the site of the fistula and its two orifices.Gastroscopy was performed again,revealing a small ulcer approximately 5 mm in diameter,which was considered as an orifice.On the basis of OA-CEUS and other examinations,the patient was diagnosed with a GF secondary to CD.Then,laparoscopic exploration,partial stomach resection,transverse colostomy and abdominal abscess drainage were performed.The patient recovered uneventfully.CONCLUSION GFs are rare,occult and potentially life-threatening complications in CD.US is one of the first-line modalities to evaluate CD and its complications.OA-CEUS,a novel technique of US for gut,may be helpful in reducing the possibility of a missed diagnosis of GF.
文摘BACKGROUND Primary intestinal lymphangiectasia(PIL),first described in 1961,is a rare disorder of unknown etiology resulting in protein-losing enteropathy.The disease is characterized by dilatation and leakage of intestinal lymph vessels leading to hypoalbuminemia,hypogammaglobulinemia,and lymphopenia.Since the severity and location of lymph vessels being affected can vary considerably,the range of associated symptoms is wide from mild lower-limb edema to generalized edema,abdominal and/or pleural effusion,and recurrent diarrhea,among others.Although usually developing in early childhood,we present the case of a 34-yearold woman with PIL.Moreover,we performed a literature review systematically assessing clinical presentation,and provide a practical approach to facilitate diagnosis and therapy of PIL in adults.CASE SUMMARY Our patient presented with unspecific symptoms of abdominal discomfort,fatigue,nausea,and recurrent edema of the lower limbs.Interestingly,a striking collinearity of clinical symptoms with female hormone status was evident.Additionally,polyglobulia,hypoalbuminemia,hypogammaglobulinemia,and transient lymphocytopenia were evident.Due to suspicion of a bone marrow disease,an extensive diagnostic investigation was carried out excluding secondary causes of polyglobulinemia and hypoalbuminemia.The diagnosis of primary intestinal lymphangiectasia was established after 22 wk by histological analysis of biopsy samples obtained via enteroscopy.Consecutively,the patient was put on a high-protein and low-fat diet with medium-chain triglycerides supplementation leading to significant improvement of clinical symptoms until 2 years of follow-up.CONCLUSION PIL can be the reason for cryptogenic hypoalbuminemia,hypogammaglobulinemia,and lymphopenia in adulthood.Due to difficulty in correct diagnosis,treatment initiation is often delayed despite being effective and welltolerated.This leads to a significant disease burden in affected patients.PIL is increasingly been recognized in adults since the majority of case reports were published within the last 10 years,pointing towards an underestimation of the true prevalence.The association with female hormone status warrants further investigation.
文摘BACKGROUND Bouveret´s syndrome is defined as a gastric outlet obstruction after passage of a gallstone through a fistula into the duodenum.Due to its rarity,the diagnosis of Bouveret’s syndrome is often delayed and causes a high morbidity and mortality rate.CASE SUMMARY A 93-year-old female presented with worsening pain in the right upper abdomen and vomiting.A gastroscopy revealed fluid retention caused by a massive obstructive stone in the bulbus.Endoscopic laser lithotripsy of the impacted stone was planned after multidisciplinary consultation.A Dornier Medilas H Solvo lithotripsy 350μm laser fiber(10 Hz,2 Joules)was used to disintegrate the stone into smaller pieces.The patient recovered completely.CONCLUSION A mechanical obstruction due to a gallstone that has entered the gastrointestinal tract is a complication that appears in 0.3%-0.5%of patients who have cholelithiasis.Stones larger than 2 cm can become impacted in the digestive tract,which occurs mostly in the terminal ileum.In approximately 1%-3%of cases,the stones cause obstruction in the duodenum.This phenomenon is called Bouveret’s syndrome.As this condition is mostly observed in elderly individuals with multiple comorbidities,treatment by an open surgical approach is unsuitable.Endoscopic removal is the preferred technique.The benefit of using laser lithotripsy is the precise targeting of energy onto the stone with minimal tissue injury.Endoscopic laser lithotripsy is a safe and feasible treatment option for Bouveret’s syndrome.
文摘BACKGROUND Hypoganglionosis is a rare condition that most often presents with abnormal gastrointestinal transit and usually arises in early childhood or adolescence. Two types have been described(Type I and Type II). The adult-onset form(acquired hypoganglionosis) is extremely uncommon and is thought to arise due to cellular remodelling as a result of chronic inflammation. It differs from Hirschprung's disease in that there is a reduction in ganglion cells in the colonic neural plexuses as opposed to being completely absent.CASE SUMMARY A 31 year-old male presented to hospital with recurrent abdominal pain and vomiting over thirteen months. Abdominal computed tomography scans demonstrated thickening and stranding affecting the transverse, descending and sigmoid colon. Endoscopic appearances were non-specific but confirmed a mixed picture of mucosal inflammation and necrosis in various stages of healing.Numerous investigations were performed to elucidate an underlying aetiology but neither an infective nor ischaemic cause could be proven. Biopsy features were not typical of inflammatory bowel disease. Due to persistence of his symptoms and failure of medical management, a segmental colectomy was performed. Histological examination of the specimen revealed an unexpected finding of segmental hypoganglionosis. Complete surgical excision of the diseased segment of colon was curative and since his operation the patient has had no recurrence of symptoms requiring hospitalisation.CONCLUSION Our case serves to raise awareness of acquired hypoganglionosis as a rare condition that can result from chronic colitis.
文摘BACKGROUND Madelung’s disease,also known as multiple symmetrical lipomatosis,is a rare,underrecognized disorder of fat metabolism that results in unusual accumulation of subcutaneous fat deposits around the neck,shoulders,upper arms,trunk,hips,and upper thighs.Our case demonstrates the importance of differential diagnosis and the value of a superb microvascular imaging technique for suspecting and confirming Madelung’s disease.Timely diagnosis and alcohol abstinence could prevent the progression of growing fatty masses and prevent surgery.CASE SUMMARY A 62-year-old male was admitted to the Rheumatology center complaining of symmetric subcutaneous tumors in the area of the parotid and submandibular salivary glands,small soft masses in the occiput and upper third of the forearm,rashes on calves.A high titer of rheumatoid factor and low concentrations of serum complements were detected.The high-end ultrasound and magnetic resonance imaging examinations of all affected areas of the soft tissues showed predominantly adipose tissue(lipomas)without suspicion of liposarcoma.The biopsy from the small salivary gland revealed no pathology.After evaluating the patient’s clinical presentation(symmetrical lipomatosis,cirrhosis,gynecomastia,anemia,hyperuricemia),Madelung’s disease,type I,along with the psoriatic rash and psoriatic arthritis and secondary liver cirrhosis were established.CONCLUSION Madelung’s disease consists of many co-occurring disorders imitating and overlapping with other conditions.Ultrasonography is the first choice for suspecting and confirming symmetrical lipomatosis.
基金Supported by National Natural Science Foundation of China,No.81770525.
文摘BACKGROUND Esophageal schwannomas originating from Schwann cells are extremely rare esophageal tumors.They commonly occur in the upper and middle esophagus but less frequently in the lower esophagus.Herein,we report a rare case of a large lower esophageal schwannoma misdiagnosed as a leiomyoma.We also present a brief literature review on lower esophageal schwannomas.CASE SUMMARY A 62-year-old man presented with severe dysphagia lasting 6 mo.A barium esophagogram showed that the lower esophagus was compressed within approximately 5.5 cm.Endoscopy revealed the presence of a large submucosal protuberant lesion in the esophagus at a distance of 32-38 cm from the incisors.Endoscopic ultrasound findings demonstrated a 4.5 cm×5.0 cm hypoechoic lesion.Chest computed tomography revealed a mass of size approximately 53 mm×39 mm×50 mm.Initial tests revealed features indicative of leiomyoma.After multidisciplinary discussions,the patient underwent a video-assisted thoracoscopic partial esophagectomy.Further investigation involving immunohistochemical examination confirming palisading spindle cells as positive for S100 and Sox10 led to the final diagnosis of a lower esophageal schwannoma.There was no tumor recurrence or metastasis during follow-up.CONCLUSION The final diagnosis of esophageal schwannoma requires histopathological and immunohistochemical examination.The early appropriate surgery favors a remarkable prognosis.
文摘BACKGROUND Non-Hodgkin’s lymphoma(NHL)can involve extralymphatic organs,resulting in diverse clinical manifestations,especially if the endocrine organs are affected.This type of involvement can often be difficult to detect accurately.Until now,no patients with NHL and concomitant bilateral adrenal and hypothalamic involvement have been reported.The purpose of this article is to discuss the diagnosis and treatment of lymphoma with bilateral adrenal gland and hypothalamic involvement so as to help physicians avoid misdiagnosis and missed diagnosis.CASE SUMMARY We describe a case of a 52-years-old male patient with bilateral adrenal masses,who presented with a fever of unknown origin on admission.Subsequently,hypopituitarism of the anterior pituitary followed by posterior pituitary developed.18fluorine-fluorodeoxyglucose positron emission tomography/computed tomography(PET/CT)showed lesions with a high metabolism in both adrenal glands,hypothalamus,left supraclavicular lymph nodes,and other organs.The etiological diagnosis was determined based on a left supraclavicular lymph node biopsy.The patient,who eventually present with panhypopituitarism,was finally diagnosed with diffuse large B cell lymphoma with bilateral adrenal gland and hypothalamic involvement.After immunochemotherapy,glucocorticoids administration and desmopressin acetate replacement therapy,the symptoms of fever and panhypopituitarism improved,and all the lesions reduced in size.CONCLUSION This report demonstrates that,although synchronous involvement of two endocrine organs is rare in NHL,extra caution should be taken when dysfunction occurs in multiple endocrine organs.