Cronkhite-Canada syndrome with esophagus involvement and sixyear follow-up:A case report

BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare,noninherited disease characterized by gastrointestinal polyposis with diarrhea and ectodermal abnormalities.CCS polyps are distributed through the whole digestive tract,and they are common in the stomach and colon but very uncommon in the esophagus.CASE SUMMARY Here,we present a case of a 63-year-old man with skin hyperpigmentation accompanied by diarrhea,alopecia,and loss of his fingernails.Laboratory data indicated anemia,hypoalbuminemia,hypocalcemia,hypokalemia,and positive fecal occult blood.Endoscopy showed numerous polyps scattered throughout the digestive tract,including the esophagus.He was treated with nutritional support and glucocorticoids with remission of his symptoms.CONCLUSION Comprehensive treatment led by hormonal therapy can result in partial or full remission of clinical symptoms.Treatment should be individualized for each patient according to their therapy response.Surveillance endoscopy is necessary for assessing mucosal disease activity and detecting malignant transformation.

Sustained remission of Cronkhite-Canada syndrome after corticosteroid and mesalazine treatment: A case report

BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare disease of unknown etiology.The optimal treatment for CCS remains unknown.Treatment with corticosteroids is considered the mainstay treatment because of its high efficacy,but the therapeutic strategy for steroid-resistant CCS is not yet established.CASE SUMMARY This is the case of an 81-year-old woman who was diagnosed with CCS.Given her severe diarrhea,nausea,vomiting,and hypoproteinemia,hormone therapy(40 mg/d)was administered,and the symptoms improved within 1 wk.After 3 mo,the patient had no obvious symptoms.The polyps were significantly reduced on review gastroscopy and colonoscopy,thus hormone reduction gradually began.The hormone level was maintained at 10 mg/d after 6 mo.Despite the age of the patient and the side effects of hormones,the patient had no obvious discomfort.However,hormone drugs were discontinued,and mesalazine was administered orally at 3 g/d.The patient's symptoms continued to improve after a follow-up of 5 years.CONCLUSION Corticosteroids and mesalazine are potential treatment options for CCS.

Cronkhite-Canada syndrome complicated with pulmonary embolism:A case report

BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare disease,that causes gastrointestinal polyps,ectodermal abnormalities,and gastrointestinal symptoms.CCS is prone to thromboembolism,but clinical workers have not yet established a clinical consciousness of preventing thromboembolism.The present case illustrates pulmonary embolism(PE)complicated by CCS.CASE SUMMARY A 46-year-old male patient presented with mucus,purulent,and bloody stool.Ectodermal changes included skin pigmentation,alopecia,and nail dystrophy.Colonoscopy revealed the presence of multiple polyps.After a comprehensive evaluation,the patient was diagnosed with CCS.During the disease,he was also diagnosed with pulmonary embolism,Riehl's melanosis,and intestinal flora imbalance.After symptomatic treatment with omeprazole,mesalazine,rivaroxaban,nutritional support,and regulation of intestinal flora,the patient’s symptoms were significantly relieved.CONCLUSION CCS complicated with PE was reported for the first time in China in this study.Despite the fact that CCS is extremely rare,patients with CCS should be classified as a high-risk venous thromboembolism(VTE)population,and emphasis should be placed on venous thromboembolism risk assessment and stratification,deep venous thromboembolism screening,prevention of VTE,and careful long-term follow-up.

Cronkhite-Canada syndrome:Report of six cases and review of literature

Cronkhite-Canada syndrome(CCS)is a rare nonfamilial polyposis syndrome characterized by epithelial disturbances in the gastrointestinal tract and skin.The aim of this study was to investigate the clinical features and potential therapies for CCS.Six patients with CCS admitted from December 1992 to July 2008 to Peking Union Medical College Hospital were evaluated.All patients had clinical manifestation of nonhereditary gastrointestinal polyposis with diarrhea,skin hyperpigmentation,alopecia,and nail dystrophy.Fecal occult blood was positive in all six cases.Serum hemoglobin,potassium,calcium and protein were below the normal range in two cases.Anti-Saccharomyces cerevisiae and antinuclear antibodies were present in three cases.Multiple polyps were found in all patients by gastroscopy and colonoscopy,with only one in the esophagus.Histologically,there were hyperplastic polyps in five cases,tubular adenoma in three,and juvenile polyp in one with chronic inflammation and mucosal edema.Comprehensive treatment led by corticosteroids can result in partial remission of clinical symptoms,and longterm follow-up is necessary.

Cronkhite-Canada syndrome associated with myelodysplastic syndrome

We report a case of Cronkhite-Canada syndrome(CCS)associated with myelodysplastic syndrome(MDS).A 54-year-old woman,diagnosed as MDS the prior year after evaluation of anemia,visited our hospital with the chief complaint of epigastric discomfort.She also had dysgeusia,alopecia,atrophic nail change,and pigmentation of the palm,all of which began several months ago.Blood tests revealed severe hypoalbuminemia.Colonoscopy(CS)showed numerous,dense,red polyps throughout the colon and rectum.Biopsy specimens showed stromal edema,infi ltration of lymphocytes,and cystic dilatation of the crypt.Her clinical manifestations and histology were consistent with CCS.We prescribed corticosteroids,which dramatically improved her physical findings,laboratory data,and endoscopic fi ndings.This is the first report of CCS in a patient with MDS.

Surgery for Cronkhite-Canada syndrome complicated with intussusception:A case report and review of literature

BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare nonhereditary disease with a syndrome of multiple gastrointestinal polyps,skin pigmentation,hair loss,and fingernail/toenail dystrophy.Intussusception is a serious condition with an occurrence rate of 5%in adults,which is mainly caused by intestinal tumors or other intestinal occupations.CASE SUMMARY A 57-year-old woman was admitted to our hospital due to abdominal distension and pain for the past year.Her nausea and vomiting symptoms had been aggravated for the past month.Previous transoral enteroscopy results one year prior showed chronic erosive gastritis protuberans,duodenitis,and jejunitis.She had sparse body hair and brown pigmentation on the skin of her hands and bilateral anterior tibias.The nails of both hands were pale and lacked luster,and the fingernail of her ring finger was longitudinally cracked.Gastroscopy showed extensive diffuse polypoid lump changes in the gastric body and antrum,of 0.5-3 cm in size.Colonoscopy showed multiple polypoid mucosal bulges in the terminal ileum and multiple polyps(0.3-5 cm)throughout the colon.The patient was diagnosed with CCS and underwent partial excision of the polyps,but she refused hormone therapy.One month later,the patient complained of nausea and vomiting,accompanied by abdominal pain and inability to pass gas or stool.Contrast-enhanced computed tomography of the abdomen showed gastrointestinal polyposis and ileocecal intussusception.She underwent stomach and bowel surgery.CONCLUSION CCS,as a rare disease with poor prognosis,should be treated aggressively.Systematic steroids,immunosuppressive agents,and biological agents were not applied;thus,the patient’s symptoms quickly progressed,and intussusception occurred.She had to undergo surgery.Improved compliance may lead to a better prognosis.

Cronkhite-Canada syndrome with steroid dependency: A case report

BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare nonhereditary disease characterized by chronic diarrhoea,diffuse gastrointestinal polyposis and ectodermal manifestations.The lethality of CCS can be up to 50%if it is untreated or if treatment is delayed or inadequate.More than 35%of the patients do not achieve long-term clinical remission after corticosteroid administration,with relapse occurring during or after the cessation of glucocorticoid use.The optimal strategy of maintenance therapy of this disease is controversial.CASE SUMMARY A 47-year-old man presented to the hospital with a 3-mo history of frequent watery diarrhoea,accompanied by macular skin pigmentation that included the palms and soles,and onychodystrophy of the fingernails and toenails.Gastroscopy and colonoscopy revealed numerous polyps in the stomach and colon.After other possibilities were ruled out by a series of examinations,CCS was diagnosed and treated with prednisone.The patient took prednisone for more than 1 year before achieving complete resolution of his symptoms and endoscopic findings.The patient was then given prednisone 5 mg/d for 6 mo of maintenance therapy.With clinical improvement and polyp regression,prednisone was discontinued.Eight mo after the discontinuation of prednisone,the diarrhoea and gastrointestinal polyps relapsed.Therefore,the patient was given the same dose of prednisone,and complete remission was achieved again.CONCLUSION It is necessary to extend the duration of prednisone maintenance therapy for CCS.Prednisone is still effective when readministered after relapse.Surveillance endoscopy at intervals of 1 year or less is recommended to assess mucosal disease activity.

Exome analysis for Cronkhite-Canada syndrome: A case report

BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare,non-genetic disorder characterized by multiple gastrointestinal polyps,and ectodermal lesions such as alopecia,fingernail atrophy,and skin mucosal pigmentation.Unfortunately,the pathogenesis of CCS is currently unknown.CASE SUMMARY Here,we describe the case of an elderly female with diarrhea,fatigue,and hair loss,who experienced abdominal pain for over half a year and was found to have multiple gastrointestinal polyps.She was diagnosed with CCS and was treated with albumin supplementation and prednisone,and her electrolyte imbalance was corrected.Following treatment,her symptoms significantly improved.To elucidate the role of potential genetic events in the pathogenesis of CCS,we performed exome sequencing using an extract of her colorectal adenoma.CONCLUSION Our data revealed multiple somatic mutations and copy number variations.Our findings provide a novel insight into the potential mechanisms of CCS etiology.

Thalidomide combined with endoscopy in the treatment of Cronkhite-Canada syndrome:A case report

BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare non-hereditary disease with a poor prognosis and a mortality rate of up to 55%.Currently,there is no standard treatment for CCS.The department of gastroenterology of our hospital admitted a patient with CCS whose symptoms improved significantly after treatment with thalidomide combined with endoscopy,and there was no obvious adverse reaction during the 2-year follow-up.CASE SUMMARY A 47-year-old Chinese man presented with diarrhea for more than 4 mo,accompanied by loss of taste,fatigue,and weight loss.Physical examination demonstrated that the patient’s skin and hands were hyperpigmented,the front edges of the nails of both hands were notably thickened and yellow,and the nails were partially atrophied.Gastrointestinal endoscopy identified a diffuse polypoid bulge,and the patient bore an albumin level of 27.3 g/L.The level of the calcium correction amount was(2.164 m M)which allowed for a comprehensive diagnosis of Cronkhite-Canada syndrome,combined with hypoalbuminemia and hypocalcemia.Thalidomide of 150 mg per day was administered to regulate immunity,and the symptoms were relieved after 1 wk.During the follow-up period,polyps were still found that had not been resolved by thalidomide treatment,and endoscopic therapy was performed.This resulted in further improvement of his condition and no particular discomfort during the 2 years of follow-up.CONCLUSION The patient’s symptoms were significantly relieved by thalidomide 2 years after treatment,proposing it as a potential treatment for CCS.

Cronkhite-Canada syndrome:First case report from Egypt and North Africa

BACKGROUND Gastrointestinal(GI)polyposis is a rare condition in GI diseases.To date about 500 cases of Cronkhite-Canada syndrome(CCS)have been reported worldwide.CASE SUMMARY We report a 60-year-old female patient who presented with dyspepsia,abdominal pain,and weight loss of 1-year duration.Her physical examination showed alopecia and onychodystrophy.Upper endoscopy revealed diffuse markedly thickened gastric mucosa involving the whole stomach with thickened gastric rugae and numerous polypoidal lesions.Histopathological examination showed marked hyperplasia of the foveolar glands with inflammatory cell infiltration.Endoscopic ultrasound showed a significantly hypertrophic mucosa and muscularis mucosa,while the submucosa and the muscularis propria were spared,favouring its benign nature.Colonoscopy showed multiple sessile polyps scattered at different parts of the colon.Histopathological examination revealed tubular adenomatous polyps with low-grade dysplasia.Differential diagnoses included CCS,Menterier disease(MD),other polyposis syndromes,lymphoma,amyloidosis,and gastric malignancies.The presence of alopecia,nail dystrophy,GI polyposis,markedly thickened gastric mucosa and folds,abdominal pain,weight loss,and marked foveolar gland hyperplasia;all was in favour of CCS.Lymphoma was excluded due to sparing of the muscularis propria.The presence of colonic polyps and antral and duodenal infiltration,and the absence of hypoproteinaemia decreased the possibility for MD.CONCLUSION The patient was diagnosed as having CCS.

Cronkhite-Canada syndrome polyps infiltrated with IgG4-positive plasma cells

Cronkhite-Canada syndrome(CCS) is a rare but serious protein-losing enteropathy, but little is known about the mechanism. Further more, misdiagnosis is common due to non-familiarity of its clinical manifestation. A 40-year-old male patient was admitted to our hospital because of diarrhea and hypogeusia associated with weight loss for 4 mo. On physical examination, skin pigmentation, dystrophic nail changes and alopecia were noted. He had no alike family history. Laboratory results revealed low levels of serum albumin(30.1 g/L, range: 35.0-55.0 g/L), serum potassium(2.61 mmol/L, range: 3.5-5.5 mmol/L) and blood glucose(2.6 mmol/L, range: 3.9-6.1 mmol/L). The erythrocyte sedimentation rate was elevated to 17 mm/h(range: 0-15 mm/h). X-ray of chest and mandible was normal. The endoscopic examination showed multiple sessile polyps in the stomach, small bowel and colorectum. Histopathologic examination of biopsies obtained from those polyps showed hyperplastic change, cystic dilatation and distortion of glands with inflammatory infiltration, eosinophilic predominance and stromal edema. Immune staining for IgG 4 plasma cells was positive in polyps of stomach and colon. The patient was diagnosed of CCS and treated with steroid, he had a good response to steroid. Both histologic findings and treatment response to steroid suggested an autoimmune mechanism underling CCS.

Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome

Cronkhite-Canada syndrome (CCS) is a rare, non-inherited polyposis syndrome, characterized by diffuse gastrointestinal (GI) hamartomatous polyposis with unique dermatologic changes including alopecia, skin hyperpigmentation, and nail dystrophy. Patients can typically present with diarrhea, weight loss, protein-losing enteropathy, and nutritional deficiency. However, it can demonstrate diverse other clinical features, usually with poor prognosis. Currently, there are no specific diagnostic criteria established yet. The etiology of CCS is still obscure, but an autoimmune process has been suggested. Here we present an 81-year-old Caucasian female who had clinical presentations, physical exam, imaging, endoscopy and pathology findings that were all consistent with the diagnosis of CCS. We also include a detailed literature review of the other gastrointestinal polyposis syndromes (hamartomatous, adenomatous, hyperplastic and inflammatory polyposis). A high index of suspicion and recognition of the characteristic clinical, endoscopic as well as histopathological findings of CCS, as well as different gastrointestinal polyposis conditions, can help clinicians with more timely and correct diagnosis.

Restless head syndrome:A retrospective study

BACKGROUND Restless legs syndrome(RLS)is characterized by an urge to move with an unpleasant sensation in the lower limbs.RLS typically affects the legs.However,it can also affect several other body regions,such as the arms,abdomen,face,neck,head,and genital area.There are only a few reports of the RLS variant affecting the head.AIM To assess the epidemiological,clinical,and other aspects of the RLS variant affecting the head.METHODS We conducted a retrospective study of 17 adult patients(>18 years)who met the RLS criteria and simultaneously experienced RLS-like symptoms in the head.RESULTS The median age at which symptoms appeared was 41.6 years.Males and females were equally affected(1.1:1).All 17 patients had uncomfortable sensations in the lower legs.Insomnia or disturbed sleep was the most common comorbidity(n=16,88.2%).However,headache was the most common presenting or primary symptom(n=10,70.5%).Dizziness or an abnormal sensation in the head was the second most common presenting symptom(5 patients,29.4%).Other presenting features were leg pain,backache,and generalized body pain.All patients responded favorably to dopaminergic medications.CONCLUSION If RLS-related unpleasant sensations and pain are felt in the head,they may be misinterpreted as headache,dizziness,or psychosomatic symptoms.RLS and headaches in a subset of patients may be two phenotypic manifestations of the same disorder.

Saccharomyces boulardii as a single trigger of food protein-induced enterocolitis syndrome: Seven case reports

BACKGROUND Food protein-induced enterocolitis syndrome(FPIES)is the most serious type of non-immunoglobulin E(IgE)-mediated food allergic reaction manifesting as sepsis-like symptom,which can lead to shock.Saccharomyces boulardii(S.boulardii),a probiotic prescribed frequently in clinical settings,has been reported to trigger FPIES in an infant with soy-triggered FPIES.In this report,we describe a new clinical FPIES in which S.boulardii was the sole triggering factor of acute FPIES adverse reaction in seven healthy infants.CASE SUMMARY Seven FPIES cases triggered by only S.boulardii were gathered from 2011 to the present.None of the patients had previously experienced any allergic reaction to cow’s milk,soy,or complementary food.The age of the patients was 4-10-months old,and the symptoms of FPIES developed after ingestion of S.boulardii,which is mostly prescribed for the treatment of gastroenteritis or antibiotic-associated diarrhea.All patients experienced severe repetitive vomiting 1-3 hours after S.boulardii ingestion.Extreme lethargy,marked pallor,and cyanosis were also observed.No IgE-mediated hypersensitivity developed in any patient.Diarrhea was followed by initial intense vomiting in approximately 5-10 hours after S.boulardii ingestion,and only one case showed bloody,purulent,and foul-smelling diarrhea.The patients stabilized quickly,mostly within 6 hours.Symptoms got all improved within 24 hours after discontinuation of S.boulardii.CONCLUSION S.boulardii can be the sole trigger of acute FPIES and be prescribed cautiously even in healthy children without FPIES.

Health anxiety and work loss in patients diagnosed with serrated polyposis syndrome:A cross sectional study

BACKGROUND Serrated polyposis syndrome(SPS)is a polyposis condition with neoplastic potential,but its psychological impact is not well understood.AIM To assess health anxiety prevalence in a regional Australian cohort of SPS patients and explore factors influencing it,including workforce impacts of regular surveillance.METHODS This cross-sectional study screened patients aged 18-65 undergoing colonoscopy in a regional gastroenterology practice between January 2015 and June 2022.Eligible SPS patients were invited to participate.Data included the Short Health Anxiety Inventory,employment status,and previous demographic and medical findings.RESULTS Health anxiety was found in 21.57%of SPS patients,with anxious patients being significantly more concerned about surveillance(OR=7.70).Patients lost an average of 11.04 work hours per colonoscopy.CONCLUSION Health anxiety in SPS patients aligns with rates in other gastroenterology populations.Identifying it may improve management,though further research is needed to better understand prevalence and care improvements.

Unusual ovarian hyperstimulation syndrome presentation:Pleural effusion without ascites.A case report

BACKGROUND Ovarian hyperstimulation syndrome(OHSS)is a life-threatening complication that can occur in the luteal phase or early pregnancy after controlled ovarian stimulation.This case report highlights a unique manifestation of OHSS involving pleural effusion(PE)in a patient without identifiable risk factors.CASE SUMMARY A 39-year-old woman who underwent controlled ovarian hyperstimulation for an in vitro fertilization(IVF)cycle experienced dyspnea on the eleventh day of post oocyte retrieval.The diagnosis was severe OHSS with a unique manifestation of PE without ascites.Clinical management involved fluid balance and treatment with albumin,furosemide,thromboembolic prophylaxis,and thoracentesis.A continued drainage of the pleural cavity was performed.The patient had a favo-rable outcome,and a dichorionic diamniotic gestation passed without incident.CONCLUSION OHSS and its potential complications can include respiratory distress and PE,as well as thromboembolic disorders.

Anlotinib-induced sick sinus syndrome:Two case reports

BACKGROUND This manuscript describes the first known cases of sick sinus syndrome(SSS)associated with the use of anlotinib in non-small cell lung cancer patients,highlighting the need for increased vigilance and cardiac monitoring.CASE SUMMARY Two patients with non-small cell lung cancer developed SSS after 15 months and 5 months of anlotinib treatment,respectively,presenting with syncope and palpit-ations.Electrocardiogram confirmed SSS,and different treatment approaches were taken for each patient.One patient received a dual-chamber permanent pacemaker,while the other discontinued the medication and experienced symptom resolution.CONCLUSION Anlotinib can induce SSS,suggesting that cardiac monitoring is crucial during anlotinib treatment.Individualized management strategies are necessary for affected individuals.

Magnetic resonance imaging evaluation and nuclear receptor binding SET domain protein 1 mutation in the Sotos syndrome with attention-deficit/hyperactivity disorder

Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopment and psychiatric disorder in childhood.Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD.Magnetic resonance imaging(MRI)has been used to assess medical images in Sotos syndrome and ADHD.The images process is considered to display in MRI while wavelet fusion has been used to integrate distinct images for achieving more complete information in single image in this editorial.In the future,genetic mechanisms and artificial intelligence related to medical images could be used in the clinical diagnosis of Sotos syndrome and ADHD.

Cauda equina syndrome with urinary retention as a postoperative complication of lumbar spine surgery:A case report

BACKGROUND Cauda equina syndrome(CES)is characterized by a group of symptoms that may be caused by inflammation,spinal cord compression,venous congestion,or ischemia.This syndrome is commonly an indication for surgical intervention but has not been determined as a postoperative complication following surgery for lumbar spine disease.CASE SUMMARY To report the case of a 54-year-old male patient who had CES following spinal surgery,with no obvious compression lesions found during re-exploration,suggesting that vascular insufficiency may have contributed to the condition.Furthermore,a series of urodynamic studies on bladder recovery patterns in such complications have also been investigated.CONCLUSION Postoperative CES requires urgent imaging and exploration to rule out compression;noncompressive cases,including vascular insufficiency may performed conservative management.

Literature study on traditional Chinese medicine syndromes after renal transplantation

BACKGROUND Kidney transplantation is the most effective means to treat patients with renal failure,but its postoperative problems such as rejection reactions,immunosuppressant poisoning,chronic transplant kidney nephropathy,etc.still have not been effectively solved.This study searched for literature on traditional Chinese medicine(TCM)syndromes after kidney transplantation in China,conducted statistical analysis of the results,and sought to identify the underlying patterns.AIM To understand the TCM syndromes after renal transplantation and associated rules and provide a theoretical basis for further clinical research.METHODS The literature pertaining to TCM syndromes in renal transplantation,published in the China National Knowledge Infrastructure,Wanfang database,and WIP database from 1970 to 2021,was meticulously searched and comprehensively and statistically analyzed.RESULTS Following the established inclusion and exclusion criteria,13 studies were selected for analysis.Post-renal transplantation,no significant discrepancy was noted among the groups based on the location of TCM viscera.However,when categorized according to TCM pathogenic factors,the groups with spleen and kidney yang deficiency,as well as liver and kidney yin deficiency,exhibited a statistically significant difference in the frequency.CONCLUSION Currently,the research on TCM syndromes pertaining to renal transplantation is in its nascent phase.It is imperative to conduct a multicentric,large-scale survey of TCM syndromes subsequent to renal transplantation in the ensuing years.