Ruthenium-106 plaque brachytherapy for the treatment of diffuse choroidal hemangioma in Sturge-Weber syndrome

AIM:To evaluate the efficacy of ruthenium-106 plaque brachytherapy for the treatment of diffuse choroidal hemangioma(DCH)in Sturge-Weber syndrome(SWS).METHODS:A total of 8 patients with DCH in SWS managed with plaque brachytherapy were retrospectively included.Patients were treated with ruthenium-106 plaque therapy(median apex dose:83 Gy)at the thickest tumor region.On follow-up,we recorded the tumor thickness,the best-corrected visual acuity(BCVA),subretinal fluid(SRF)status,and complications following treatment.RESULTS:At a median follow-up of 43 mo,tumor regression was observed in all cases,with a complete resolution of SRF and reduction in tumor-thickness.No radiation complications were recorded during the follow up time.CONCLUSION:Ruthenium-106 plaque therapy to the thickest portion of the tumor seems to be a useful treatment in patients with DCH in SWS.

Predictors of perioperative complications after surgical intervention of Sturge-Weber syndrome

Objective:lobectomy is an effective therapy for patients with Sturge-Weber syndrome(SWS).Perioperative complications often play a critical role for SWS patients’rehabilitation.This study aimed to explore and the factors of perioperative complications in SWS patients.Methods:we reviewed retrospectively the clinical profile of totally 60 SWS patients who received surgically treatments in Sanbo Brain Hospital,Capital Medical University,from March 2009 to April 2018.Univariate analyses were used to identify the potential predictors of perioperative complications.Results:the average hospitalization time of 60 patients was(35.57±10.79)d.After surgery,54(90.00%)patients reached Engle I level.The most common postoperative complications were fever(83.33%),motor function damage(38.33%)and hyponatremia(55.00%).Univariate analyses revealed that mental retardation,seizure types and surgery types could be the predictive factors for postoperative complications.Conclusion:postoperative complications are common in SWS patients.Prediction of the severity can help doctors know what kind of special care SWS patients need to help them for further rehabilitation.

Epileptogenesis in Sturge-Weber syndrome

Sturge-Weber syndrome(SWS)is a sporadic congenital neurocutaneous disorder characterized by facial port-wine stain,glaucoma and leptomeningeal angioma.It is hypothesized that somatic mutation in GNAQ(p.R183Q),which is associated with the disruption of vascular development,may be a possible mechanism of SWS.The neurological course of this disease may be progressive,and its major morbidity includes epilepsy,stroke-like episodes and intellectual retardation.The earlier the time point of the mutation,the severer the disease presents itself later in life.However,the relationship between SWS and epileptogenesis is still unknown.

Sturge-Weber Syndrome Associated with Early Diffuse Choroidal Hemangiaoma: A Case Report

Purpose:To report indocyanine green angiography (ICGA) findings in one patient of diffuse choroidal hemangioma associated with Struge-Weber syndrome.Methods:Color fundus photography, fluorescein angiography (FA) and ICGA were performed in a patient with diffuse choroidal hemangioma associated with Sturge-Weber syndrome.Results:Three findings were unveiled by ICGA: rapid filling of diffuse choroidal hemangio’s vascular network in the early stages; diffuse hyperfluorescence visual up to the late phase; no "wash-out" phenomenon was observed in the late phase.Conclusion:Indocyanine green angiography can provide information that is not detected by clinical or fluorescence angiographic examination in the patient with Sturge-Weber syndrome. ICGA may be important and sensitive in detecting the diffuse choroidal hamangioma associated with Sturge-Weber syndrome.

A case of circumscribed choroidal hemangioma in Sturge-Weber syndrome in China

We present a case of circumscribed choroidal hemangioma (CCH) in Sturge-Weber syndrome in a 30-year-old woman with congenital port-wine stains on the left side of face involving the upper eyelid, cheek and the nose, and she had undergone facial hemangioma surgery 3 years ago suggestive of Sturge-Weber syndrome. She presented with a 1-month history of rapidly decreased visual acuity (VA) to counting fingers in the left eye which had no prior history of visual problem. And there was no evidence of glaucoma. At 3 months after the treatment of the standard photodynannic therapy (PDT) the VA was 20/200. For some reasons, we have no idea about the changes of tumor thickness and subretinal fluid. We confirmed the curative effect of PDT treatment for CCH because of the significantly improved VA in the bad eye.

Sturge-Weber综合征患者面部鲜红斑痣的光动力治疗疗效观察

目的:观察光动力治疗Sturge-Weber综合征(SWS)患者面部鲜红斑痣的疗效及不良反应。方法:回顾性分析2020年1月--2023年4月于南京医科大学附属无锡人民医院皮肤科接受光动力治疗的SWS患者的临床资料。通过对比治疗前后数码照片评估治疗区红斑改善情况来确定疗效。网络随访获取每次治疗后的不良反应。采用Mann-Whitney U检验分析临床特征与疗效的关系。结果:共纳入61例SWS患者,年龄1~37岁,平均年龄(5.31±6.59)岁。61例患者完成了1次治疗,38例患者完成了2次治疗,24例患者完成了3次治疗。经1次、2次和3次治疗,SWS患者的平均颜色改善评分分别为(2.46±0.92)分、(3.08±1.00)分及(3.71±0.75)分;2次治疗比1次治疗,3次治疗比2次治疗疗效更好(P=0.002,P=0.01)。经1次、2次和3次治疗,男性和女性患者、<3和≥3岁患者、既往未治疗和治疗过的患者皮损颜色改善评分在每次治疗后差异均无统计学意义。在共123次治疗后,结痂(68次,55.3%)、色素沉着(10次,8.1%)、湿疹样疹(5次,4.1%)、瘢痕(3次,2.4%)和脓疱(1次,0.8%)是光动力治疗常见的不良反应。未见严重系统不良反应。结论:光动力治疗对SWS患者的面部鲜红斑痣有效且安全性较好。

Sturge-Weber syndrome： a case report and review of literatures

Sturge-Weber syndrome （SWS）, or encephalo- trigeminal angiomatosis, is a rare, congenitalneurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation （nevus flammeus or port-wine stain） in association with ipsilateral leptomeningeal angiomatosis. Prevalence is approximately one per 50 000 live births. Males and females are equally affected and there is no racial bias. 1,2 The common clinical manifestations of SWS include progressive seizures, unilateral cutaneous vascular nevus following the ophthalmic divisions of the trigeminal nerve, ipsilateral glaucoma, contralateral hemiparesis, hemiatrophy, hemianopia and mental retardation. The radiographic hallmark of SWS is ＂tram-line＂ or gyriform calcifications usually involving the occipital and parietal lobes. Histologic studies have revealed that intracranial lesions of SWS display as leptomeningeal angiomatosis, and gyriform calcifications, neuronal loss, astrogliosis in underlying brain tissue.

Body composition and metabolic syndrome in patients with type 1 diabetes

BACKGROUND In recent years,the prevalence of obesity and metabolic syndrome in type 1 diabetes(T1DM)patients has gradually increased.Insulin resistance in T1DM deserves attention.It is necessary to clarify the relationship between body composition,metabolic syndrome and insulin resistance in T1DM to guide clinical treatment and intervention.AIM To assess body composition(BC)in T1DM patients and evaluate the relationship between BC,metabolic syndrome(MS),and insulin resistance in these indi-viduals.METHODS A total of 101 subjects with T1DM,aged 10 years or older,and with a disease duration of over 1 year were included.Bioelectrical impedance analysis using the Tsinghua-Tongfang BC Analyzer BCA-1B was employed to measure various BC parameters.Clinical and laboratory data were collected,and insulin resistance was calculated using the estimated glucose disposal rate(eGDR).RESULTS MS was diagnosed in 16/101 patients(15.84%),overweight in 16/101 patients(15.84%),obesity in 4/101(3.96%),hypertension in 34/101(33.66%%)and dyslip-idemia in 16/101 patients(15.84%).Visceral fat index(VFI)and trunk fat mass were significantly and negatively correlated with eGDR(both P<0.001).Female patients exhibited higher body fat percentage and visceral fat ratio compared to male patients.Binary logistic regression analysis revealed that significant factors for MS included eGDR[P=0.017,odds ratio(OR)=0.109],VFI(P=0.030,OR=3.529),and a family history of diabetes(P=0.004,OR=0.228).Significant factors for hypertension included eGDR(P<0.001,OR=0.488)and skeletal muscle mass(P=0.003,OR=1.111).Significant factors for dyslipidemia included trunk fat mass(P=0.033,OR=1.202)and eGDR(P=0.037,OR=0.708).CONCLUSION Visceral fat was found to be a superior predictor of MS compared to conventional measures such as body mass index and waist-to-hip ratio in Chinese individuals with T1DM.BC analysis,specifically identifying visceral fat(trunk fat),may play an important role in identifying the increased risk of MS in non-obese patients with T1DM.

Spontaneous exudative retinal detachment in a patient with sturge-weber syndrome after taking arginine, a supplement for erectile dysfunction

Background:Patients with Sturge-Weber syndrome can have ipsilateral diffuse or circumscribed choroidal hemangiomas.These hemangiomas have been seen to undergo spontaneous exudative or hemorrhagic retinal detachments.There is no definitive treatment for these types of retinal detachments,but radiotherapy,photodynamic therapy,oral propranolol,pegaptinib and bevacizumab have been used.Case presentation:A 26-year-old male with Sturge-Weber Syndrome developed an exudative retinal detachment that occurred immediately after taking a supplement containing arginine.The patient was treated with intravitreal bevacizumab 1.25 mg in 0.05 ml solution.Resolution of the retinal detachment was seen after 4 treatments over a six-month period.Conclusions:Arginine and other medications that cause a release of nitric oxide may lead to intravascular leakage and exudative retinal detachments in patients who have a choroidal hemangioma.

Dynamic ultrasonography for optimizing treatment position in superior mesenteric artery syndrome:Two case reports and review of literature

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.

Hepatocardiorenal syndrome in liver cirrhosis:Recognition of a new entity?

Emerging evidence and perspectives have pointed towards the heart playing an important role in hepatorenal syndrome(HRS),outside of conventional understanding that liver cirrhosis is traditionally considered the sole origin of a cascade of pathophysiological mechanisms directly affecting the kidneys in this context.In the absence of established heart disease,cirrhotic cardiomyopathy may occur more frequently in those with liver cirrhosis and kidney disease.It is a specific form of cardiac dysfunction characterized by blunted contractile responsiveness to stress stimuli and altered diastolic relaxation with electrophysiological abnormalities.Despite the clinical description of these potential cardiac-related complications of the liver,the role of the heart has traditionally been an overlooked aspect of circulatory dysfunction in HRS.Yet from a physiological sense,temporality(prior onset)of cardiorenal interactions in HRS and positive effects stemming from portosystemic shunting demonstrated an important role of the heart in the development and progression of kidney dysfunction in cirrhotic patients.In this review,we discuss current concepts surrounding how the heart may influence the development and progression of HRS,and the role of systemic inflammation and endothelial dysfunction causing circulatory dysfunction within this setting.The temporality of heart and kidney dysfunction in HRS will be discussed.For a subgroup of patients who receive portosystemic shunting,the dynamics of cardiorenal interactions following treatment is reviewed.Continued research to determine the unknowns in this topic is anticipated,hopefully to further clarify the intricacies surrounding the liver-heart-kidney connection and improve strategies for management.

Fraser Syndrome: A Case Report

Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-consanguineous marriage, admitted to the neonatology and neonatal intensive care unit at Day 1 of life for a poly-malformative syndrome. Clinically, the newborn presented with bilateral anophthalmia, cleft palate, dysmorphic facies with a rounded forehead, hypertelorism, micrognathia, low-set ears and a short neck, syndactility and bilateral cryptorchidism. Trans fontanellar ultrasound revealed tri ventricular hydrocephalus. Cerebral MRI angiography showed malformative tri-ventricular hydrocephalus, hypoplasia of the brainstem and cerebellum, and poly-microgyria. Transthoracic and renal ultrasonography were unremarkable, and the chest X-ray was normal. The authors discuss the malformative clinical and para-clinical aspects of this syndrome, multidisciplinary management and the importance of prenatal diagnosis.

Advancements in Lynch Syndrome Management: Applying Immunotherapy for Therapeutic Success

Lynch syndrome is the fourth most common cancer in the United States, with an early age of onset and poor prognosis. Here, we present a unique case of a patient with progressive colon cancer due to a late diagnosis of Lynch syndrome showing excellent response to immunotherapy. A 59-year-old male with a history of rectal cancer 30 years ago came to the hospital due to a fever and further found a large necrotic colon mass. Biopsy was positive for colorectal cancer;however, due to the size of the tumor, the patient was deemed not a surgical candidate and offered hospice with palliative chemotherapy. Based on further workup, the patient was diagnosed with Lynch syndrome, with colon cancer determined to be responsive to Immunotherapy. He was started on JEMPERLI (Dosterlimab-gxly), and after three cycles of therapy, imaging and PET scan were repeated, showing decreased activity and extent of the tumor—a tremendous success.

Adherence to Pharmacotherapy in Post-Menopausal Women with Hypertension or Metabolic Syndrome: Real World Experience

Background: Adherence to medications is dependent upon a variety of factors, including individual characteristics of the patient, interactions with health care providers, and medication complexity. Even though several studies were conducted to test intervention strategies, results are uncertain. Aim: The aim of the study is to assess if a tailored combined intervention strategy improves medication adherence in a large population of post-menopausal women affected by hypertension or metabolic syndrome. Methods: We enrolled 6833 patients aged 50 to 69 years, 85.7% with hypertension, and 14.3% with metabolic syndrome. A network between patients, general practitioners, and cardiologists was established. Interventions included education, adequate information to patients, a simplified scheme of treatment, and periodic adherence assessment. These were either delivered as healthcare provider supports or using modern technology. Medication adherence was estimated by the proportion of days covered for all classes of drugs after the index date. Results: Non-adherent hypertensive women were 297 (5%), and those with metabolic syndrome were 73 (7.4%) (p Conclusions: The rate of non-adherence in both settings of postmenopausal women was 7.7%, much lower than that described in the literature. This rate was increased in patients with metabolic syndrome;probably it is related to the complexity of the therapeutic scheme or to a poor consciousness of the disease. Therefore, implementing a tailored combined intervention can improve significantly patients’ adherence to medical therapy.

Epidemiological, Clinical and Coronary Angiography Aspects of Acute Coronary Syndrome in the Cardiology Department of the Hospital Mother-Child “Le Luxembourg”Mali

Introduction: Cardiac catheterisation plays a fundamental role in the management of acute coronary syndrome. These explorations require heavy, complex and costly equipment and a large team of doctors, nurses and technicians with highly specialized training. Aims: To describe epidemiological, clinical and coronary angiography aspects of patients with acute coronary syndrome. Patients and Methods: Descriptive study from September 2019 to December 2023 in the Cardiology Department of the Hôpital Mère-Enfant of Bamako. Inclusion criteria were patients admitted for coronary angiography with the diagnosis of acute coronary syndrome. Results: During the study period, 1253 patients underwent coronary angiography, 596 of whom had acute coronary syndrome as an indication, representing a hospital frequency of 47%. Sex-ratio was 2.10. Mean age of patients was 58.5 ± 11.39 years. ST elevation acute coronary syndrome was the most common indication with 63.92% of cases. High blood pressure was the main cardiovascular risk factor with 58.7% of cases, and radial access approach was used in 98% of cases. Coronary angiography was pathological in 91.70% of cases (n = 548). Patients with lesions of anterior interventricular artery were 73.73% of cases. Tritruncal lesions accounted for 40.63% of cases. Conclusion: ST elevation acute coronary syndrome is the most frequent manifestation of acute coronary syndrome. Anterior interventricular artery is most often the culprit lesion for our patients.

Clinical evolution of antisynthetase syndrome-associated interstitial lung disease after COVID-19 in a man with Klinefelter syndrome:A case report

BACKGROUND This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome(AS)following coronavirus disease 2019(COVID-19)in a 33-year-old man diagnosed with Klinefelter syndrome(KS).CASE SUMMARY A 33-year-old man with a diagnosis of KS was admitted to the Department of Pulmonary and Critical Care Medicine of a tertiary hospital in China for fever and shortness of breath 2 wk after the onset of COVID-19.Computed tomography of both lungs revealed diffuse multiple patchy heightened shadows in both lungs,accompanied by signs of partial bronchial inflation.Metagenomic next-generation sequencing of the bronchoalveolar lavage fluid suggested absence of pathogen.A biopsy specimen revealed organizing pneumonia with alveolar septal thickening.Additionally,extensive auto-antibody tests showed strong positivity for anti-SSA,anti-SSB,anti-Jo-1,and anti-Ro-52.Following multidisciplinary discussions,the patient received a final diagnosis of AS,leading to rapidly progressing respiratory failure.CONCLUSION This study underscores the clinical progression of AS-associated interstitial lung disease subsequent to viral infections such as COVID-19 in patients diagnosed with KS.

Clinical features and possible pathogenesis of multiple evanescent white dot syndrome with different retinal diseases and events:a narrative review

●Multiple evanescent white dot syndrome(MEWDS)is a rare fundus disease,characterized by acute vision loss and visual field defects.Many previous studies have explained the possible pathogenesis and clinical features of primary MEWDS.However,as the number of reported cases increases,secondary MEWDS occurs in other related retinal diseases and injuries,exhibiting some special characteristics.The associated retinal diseases include multifocal choroiditis/punctate inner choroidopathy(MFC/PIC),acute zonal occult outer retinopathy,best vitelliform macular dystrophy,pseudoxanthoma elasticum,and ocular toxoplasmosis.The related retinal injury is laser photocoagulation,surgery,and trauma.Although primary MEWDS often have a self-limiting course,secondary MEWDS may require treatment in some cases,according to the severity of concomitant diseases and complications.Notably,MEWDS secondary to MFC/PIC that is prone to forming choroidal neovascularization and focal choroidal excavation,needs positive treatment with corticosteroids.The possible underlying pathogenesis of secondary MEWDS is the exposure of choroidal antigen after the disruption of Bruch’s membrane.The MEWDS-related features in secondary MEWDS are still evanescent under most circumstances.Its prognosis and treatment depend on the severity of complications.Current studies propose that the etiology is associated with immune factors,including viral infection,inflammation in choroid and Bruch’s membrane,and antigen exposure caused by retinal and/or choroidal insults.More pathogenic studies should be conducted in the future.Accurate diagnosis for secondary MEWDS could benefit patients in aspects of management and prognosis.

Nasogastric tube syndrome:A Meta-summary of case reports

BACKGROUND Since its description in 1790 by Hunter,the nasogastric tube(NGT)is commonly used in any healthcare setting for alleviating gastrointestinal symptoms or enteral feeding.However,the risks associated with its placement are often underes-timated.Upper airway obstruction with a NGT is an uncommon but potentially life-threatening complication.NGT syndrome is characterized by the presence of an NGT,throat pain and vocal cord(VC)paralysis,usually bilateral.It is poten-tially life–threatening,and early diagnosis is the key to the prevention of fatal upper airway obstruction.However,fewer cases may have been reported than might have occurred,primarily due to the clinicians'unawareness.The lack of specific signs and symptoms and the inability to prove temporal relation with NGT insertion has made diagnosing the syndrome quite challenging.AIM To review and collate the data from the published case reports and case series to understand the possible risk factors,early warning signs and symptoms for timely detection to prevent the manifestation of the complete syndrome with life-threatening airway obstruction.METHODS We conducted a systematic search for this meta-summary from the database of PubMed,EMBASE,Reference Citation Analysis(https://www.referencecitation-analysis.com/)and Google scholar,from all the past studies till August 2023.The search terms included major MESH terms"Nasogastric tube","Intubation,Gastrointestinal","Vocal Cord Paralysis",and“Syndrome”.All the case reports and case series were evaluated,and the data were extracted for patient demographics,clinical symptomatology,diagnostic and therapeutic interventions,clinical course and outcomes.A datasheet for evaluation was further prepared.RESULTS Twenty-seven cases,from five case series and 13 case reports,of NGT syndrome were retrieved from our search.There was male predominance(17,62.96%),and age at presentation ranged from 28 to 86 years.Ten patients had diabetes mellitus(37.04%),and nine were hypertensive(33.33%).Only three(11.11%)patients were reported to be immunocompromised.The median time for developing symptoms after NGT insertion was 14.5 d(interquartile range 6.25-33.75 d).The most commonly reported reason for NGT insertion was acute stroke(10,37.01%)and the most commonly reported symptoms were stridor or wheezing 17(62.96%).In 77.78%of cases,bilateral VC were affected.The only treatment instituted in most patients(77.78%)was removing the NG tube.Most patients(62.96%)required tracheostomy for airway protection.But 8 of the 23 survivors recovered within five weeks and could be decannulated.Three patients were reported to have died.CONCLUSION NGT syndrome is an uncommon clinical complication of a very common clinical procedure.However,an under-reporting is possible because of misdiagnosis or lack of awareness among clinicians.Patients in early stages and with mild symptoms may be missed.Further,high variability in the presentation timing after NGT insertion makes diagnosis challenging.Early diagnosis and prompt removal of NGT may suffice in most patients,but a significant proportion of patients presenting with respiratory compromise may require tracheostomy for airway protection.

Acute Coronary Syndrome of Young Subjects at the Luxembourg Mother-Child University Hospital in Bamako

Introduction: Acute coronary syndrome is often the first event of coronary disease of young subjects. Objective: To study sociodemographic, clinical, paraclinical, therapeutic and evolutionary aspects of acute coronary syndrome of young subjects. Patients and Methods: Descriptive cross-sectional study with prospective recruitment from October 01, 2020 to March 31, 2022. Were included all patients admitted for acute coronary syndrome whose age was less or equal to 45 years and who had undergone coronary angiography at the Mother-Child University Hospital on Luxembourg from Bamako. Results: During the study period, we collected 60 patient files out of 198. These 60 patient files met our inclusion criteria. Hospital frequency was 30.30%. Average age of patients was 40.43 ± 3.9 years. Sex ratio M/F was 5.3. Main cardiovascular risk factor was smoking tobacco (23.42%), followed by dyslipidemia (13.92%). Functional signs were dominated by angina 62% followed by dyspnea 25.3%. Persistent ST-segment elevation on electrocardiogram was present in 76.4%. Left ventricular systolic dysfunction was present in 26.5%. Time to first medical contact was more than 12 hours in 62.7% of cases. Radial approach was adopted in 94% of cases. Coronary angiography was pathological in 85% (n = 51) of cases. Lesions were single-vessel disease in 47.1% and culprit artery was anterior interventricular in 51% of cases. Dual anti-platelet aggregation was aspirin and ticagrelor in 91.8% of cases. Angioplasty was performed in all patients who had significant abnormalities at coronary angiography. In-hospital mortality was 3.9%. Conclusion: Acute coronary syndromes exist in young Africans with a male predominance. Main cardiovascular risk factor is smoking tobacco. Coronary lesions are single vessel disease in the majority of case. Most of patients meet medical team after 12 hours. Time to first medical contact is a main challenge in our country.

A Budd-Chiari Syndrome Due to C Protein Deficiency: A Case Report at YaoundéGeneral Hospital (Cameroon)

Primary Budd-Chiari syndrome (BCS) is a spontaneously fatal disease characterized by an obstruction of the hepatic venous outflow tract due to thrombosis or a primary disease of the venous wall. The primary form of BCS is extremely rare. This is a disease mainly affecting young adults of both sexes. Clinical manifestations are variable;they can be asymptomatic, acute, or subacute but mostly chronic. Several causes have been identified, such as myeloproliferative syndrome, antiphospholipid syndrome, paroxysmal nocturnal hemoglobinuria, and inherited thrombotic disorders. Data on primary BCS in Sub-Saharan Africa is rare as most publications available are case reports. In these reports, the causes are unknown with poor prognosis in most cases often leading to patient death. We herein present a case report of a male patient diagnosed with a primary BCS at Yaoundé General Hospital (Cameroon) caused by a Protein C deficiency who presented with ascites decompensating liver cirrhosis. Treatment was based on anticoagulants, diuretics and laxatives administration. Two years after the diagnosis, the patient is alive with clinical and paraclinical improvement.