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Neonatal presentation of Niemann-Pick disease type C2- A rare case report. 新生儿尼曼-皮克病 C 型--罕见病例报告。
Pub Date : 2023-12-31 DOI: 10.4038/amj.v17i3.7770
Vinaya Singh, Kailas Randad, Pushpa Yadav, Tejasi Sawant, Qudsiya Ansari
Niemann Pick type C [NP-C] disease is a rare neurodegenerative lysosomal storage disorder marked by an accumulation of unesterified cholesterol in the lysosomal system. It has autosomal recessive inheritance caused by mutations in NPC1 and NPC2 genes. The broad clinical spectrum ranges from a prenatal severe manifestation to an adult-onset chronic neurodegenerative disease. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and pulmonary infiltrates (in some instances). Patients with NP-C usually do not show neurological manifestations during the neonatal period. Herein we present a case of neonatal cholestasis with hepatosplenomegaly and anaemia, which was diagnosed as Niemann Pick disease type C2. Thus, NP-C is an important differential diagnosis of neonatal cholestasis in the presence of visceromegaly.
尼曼皮克 C 型[NP-C]病是一种罕见的神经退行性溶酶体储积症,其特征是溶酶体系统中未酯化胆固醇的蓄积。该病为常染色体隐性遗传,由 NPC1 和 NPC2 基因突变引起。其临床表现范围很广,从出生前的严重表现到成年后的慢性神经退行性疾病都有。围产期和婴儿期的表现主要是内脏症状,如肝脾肿大、黄疸和肺部浸润(在某些情况下)。NP-C 患者在新生儿期通常没有神经系统表现。在此,我们介绍了一例新生儿胆汁淤积症伴肝脾肿大和贫血的病例,该病例被诊断为尼曼皮克病 C2 型。因此,新生儿胆汁淤积症伴有肝脾肿大和贫血时,NP-C 是一个重要的鉴别诊断依据。
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引用次数: 0
The wild boar Sus scrofa cristatus attacks in Sri Lanka: a case series and review of literature 斯里兰卡的野猪攻击事件:系列病例和文献综述
Pub Date : 2023-12-31 DOI: 10.4038/amj.v17i3.7802
Sujeewa Thalgaspitiya, B. Wijerathne, Mahesh Madusanka
The wild boar, Sus scrofa, is a mammal found in Eurasia and North Africa. The incidence of attacks has slowly risen due to the dwindling forest cover, an increase in population, and intrusion into the wild boar’s natural habitat. Injuries caused by wild boars include soft tissue injuries, fractures, internal organ damage, and, in some instances, death. Here, we describe three cases of wild boar attacks presented at Teaching Hospital Anuradhapura. Early intervention, stabilization, and transportation to the appropriate tertiary care are crucial.
野猪(Sus scrofa)是一种分布于欧亚大陆和北非的哺乳动物。由于森林覆盖率下降、人口增加以及野猪的自然栖息地受到侵扰,野猪的攻击事件慢慢增多。野猪造成的伤害包括软组织损伤、骨折、内脏损伤,在某些情况下还会导致死亡。在此,我们描述了三起在阿努拉德普勒教学医院(Teaching Hospital Anuradhapura)发生的野猪袭击事件。早期干预、稳定病情并送往适当的三级医疗机构至关重要。
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引用次数: 0
Granulomatosis with polyangiitis presenting as acute ischemic stroke- A case of an unusual presentation 肉芽肿伴多血管炎表现为急性缺血性中风--一例不寻常的病例
Pub Date : 2023-12-31 DOI: 10.4038/amj.v17i3.7778
K. Maduranga, Wasantha Karunarathne, C. Sarathchandra, H. Senanayake
Ischemic stroke can be a rare atypical presentation of granulomatosis with polyangiitis (GPA). Awareness of this entity is vital when a clinician evaluates a patient for the aetiology of the ischemic stroke. We report a case of a 48-year-old female who presented with acute ischemic stroke and the etiology was found to be related to GPA. She was diagnosed according to the serological markers and MRI brain findings. Correct disease diagnosis is essential, as immunosuppressive therapy can improve the prognosis.
缺血性脑卒中可能是肉芽肿伴多血管炎(GPA)的一种罕见非典型表现。临床医生在评估患者缺血性中风的病因时,对这一实体的认识至关重要。我们报告了一例 48 岁女性急性缺血性脑卒中病例,病因与 GPA 有关。根据血清学标记和核磁共振脑成像结果,她被确诊为该病。正确的疾病诊断至关重要,因为免疫抑制治疗可以改善预后。
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引用次数: 0
Severe rhabdomyolysis following a possible sea snake bite: A case report 可能被海蛇咬伤后出现严重横纹肌溶解症:病例报告
Pub Date : 2023-12-31 DOI: 10.4038/amj.v17i3.7817
Pavithera Packiyarajah, Umakanth Maheshwaran, M. Nusair
Rhabdomyolysis is a potentially life-threatening condition characterized by muscle necrosis and the release of muscle constituents into the circulation. Rhabdomyolysis has several causes, however many of them are complex or ambiguous. Rhabdomyolysis can lead to complications such as acute kidney injury AKI), electrolyte abnormalities, compartment syndrome, and disseminated intravascular coagulation (DIC). The main stray of management principle is the prevention of acute kidney injury by hydration, alkalization and diuresis, with correction of electrolyte imbalances and acidosis.In our case, a 38-year-old man presented with generalized body swelling, body pain and dark urine after a possible sea snake bite when he visited Mannar Gulf. Blood workup showed significantly elevated creatinine phosphokinase (CPK). With proper hydration and alkaline diuresis, the patient did not develop AKI or electrolyte imbalances and he was discharged after 2 weeks with a significant reduction in CPK and clinical improvement.
横纹肌溶解症是一种可能危及生命的疾病,其特点是肌肉坏死和肌肉成分释放到血液循环中。横纹肌溶解症有多种病因,但其中许多病因都很复杂或不明确。横纹肌溶解可导致急性肾损伤(AKI)、电解质异常、隔室综合征和弥散性血管内凝血(DIC)等并发症。在我们的病例中,一名 38 岁的男子在游览马纳尔湾时可能被海蛇咬伤,随后出现全身浮肿、身体疼痛和深色尿液。血液检查显示肌酸磷酸激酶(CPK)明显升高。经过适当的补水和碱性利尿,患者没有发生 AKI 或电解质失衡,两周后出院,CPK 明显下降,临床症状也有所改善。
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引用次数: 0
Cerebellar stroke in a young female associated with elevated homocysteine levels and heterozygous MTHFR C677T gene:  A case report. 一名年轻女性的小脑卒中与同型半胱氨酸水平升高和杂合子 MTHFR C677T 基因有关: 病例报告。
Pub Date : 2023-12-31 DOI: 10.4038/amj.v17i3.7792
Piyumali Nawarathne, Wasantha Karunaratne, P. Weerawansa, H. Senanayake
Homocysteine is an amino acid, which is an intermediate in the metabolism of methionine and cysteine. Elevated homocysteine levels are recognized as a cause for both arterial and venous thrombotic phenomena. Methylenetetrahydrofolatereductase -encoded by MTHFR gene- is the rate-limiting enzyme of the remethylation of homocysteine to methionine. Homozygous MTHFR T677T gene mutation can independently cause raised homocysteine levels and increase the risk of thrombosis whereas heterozygous MTHFR C677T gene mutation usually does with an acquired cause such as folate or vitamin B12 deficiency, and is with lesser risk for thrombosis. We report a case of a previously healthy 23-year-old female, who was excluded from other inherited and acquired thrombophilic conditions, but was found to be having heterozygous MTHFR C677T gene mutation and elevated level of homocysteine presented late with right cerebellar stroke. Therefore, when young patients present with thrombotic phenomena, homocysteine levels should be assessed in the absence of other common thrombophilic conditions.
同型半胱氨酸是一种氨基酸,是蛋氨酸和半胱氨酸代谢的中间产物。同型半胱氨酸水平升高被认为是动脉和静脉血栓形成的原因之一。由 MTHFR 基因编码的亚甲基四氢叶酸还原酶是将同型半胱氨酸再甲基化为蛋氨酸的限速酶。同型MTHFR T677T基因突变可单独导致同型半胱氨酸水平升高,增加血栓形成的风险,而异型MTHFR C677T基因突变通常与叶酸或维生素B12缺乏等获得性原因有关,血栓形成的风险较小。我们报告了一例先前健康的 23 岁女性患者,该患者排除了其他遗传性和获得性血栓性疾病,但被发现患有杂合子 MTHFR C677T 基因突变和同型半胱氨酸水平升高,晚期出现右侧小脑卒中。因此,当年轻患者出现血栓现象时,如果没有其他常见的嗜血栓疾病,应评估同型半胱氨酸水平。
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引用次数: 0
A rare case of Systemic Lupus Erythematosus presenting as acute myopericarditis with bilateral pleural effusions. 一例表现为急性心肌炎伴双侧胸腔积液的系统性红斑狼疮罕见病例。
Pub Date : 2023-12-31 DOI: 10.4038/amj.v17i3.7765
Indika Wettasinghe, Arjunar Elanko, Shiran Puthra, Asanka Ratnayake, Rajananthini Thambippillai, C. Ponnamperuma, Aflah Sadeekin, Suresh Mendis
Acute myopericarditis is a rare presentation in clinical practice with multiple aetiologies. Eventhough cardiac manifestations are known to be present in up to 50% of Systemic Lupus Erythematosus (SLE) patients, acute myopericarditis is an uncommon presentation, occurring in up to 1% of patients. Here we report a patient who presented with fever and pleuritic type chest pain and was managed as acute myopericarditis with bilateral exudative pleural effusions and later diagnosed to have SLE. The patients were initially treated with nonsteroidal anti-inflammatory drugs and later with steroids and hydroxychloroquine. Early diagnosis of myopericarditis and identification of the aetiology is essential to halt the progression of disease. Pericarditis due to Tuberculosis need to be excluded before starting steroids in the Sri Lankan setting.
在临床实践中,急性心肌炎是一种罕见的表现,有多种病因。尽管已知高达50%的系统性红斑狼疮(SLE)患者会出现心脏表现,但急性心肌炎却并不常见,发病率仅为1%。在此,我们报告了一名因发热和胸膜炎型胸痛而就诊的患者,该患者因急性心肌炎合并双侧渗出性胸腔积液而接受治疗,后被诊断为系统性红斑狼疮。患者最初接受了非甾体抗炎药物治疗,后来又接受了类固醇和羟氯喹治疗。心肌炎的早期诊断和病因鉴定对于阻止病情发展至关重要。在斯里兰卡,在开始使用类固醇之前,必须排除结核引起的心包炎。
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引用次数: 0
Factors associated with initiation of tobacco smoking among schooling adolescents in the age group of 13 – 15 years in the Kandy district, Sri Lanka 斯里兰卡康提地区 13-15 岁在校青少年开始吸烟的相关因素
Pub Date : 2023-12-31 DOI: 10.4038/amj.v17i3.7816
Roshan Rambukwella, Devani Dissanayake
Adolescent smoking problem has still remained a public health concern, but factors that contribute to the initiation of adolescent smoking are not well-known in Sri Lanka. The study aimed to determine the factors associated with the initiation of tobacco smoking among schooling adolescents in government schools in the age group of 13-15 years in the Kandy district. A cross-sectional study was conducted in selected government schools of Sinhala, Tamil, and English mediums in the Kandy district. The subjects were selected using a stratified multi-stage cluster sampling method. A pretested self-administered questionnaire was used. The factors associated with the initiation of smoking were determined by a multivariable analysis using logistic regression.A total of 1395 students (Male 52.9%) were included in the study. The initiation of tobacco smoking was significantly associated with being a male student (Adjusted Odds ratio (AOR)=26.24; 95% CI=7.49-91.44), the parent being a smoker (AOR=6.04; 95% CI=2.83-12.91), education level of a father below GCE O/L (AOR=5.65; 95% CI=2.20-14.49), education level of mother below GCE O/L (AOR=2.63; 95% CI=1.18-6.25), presence of household member who smokes (AOR=7.10; 95% CI=2.76-18.29), social network use (AOR=10.73; 95% CI=3.63-31.75) and the parent being a quitter (AOR=0.29; 95% CI=0.11-0.79). Factors identified for smoking initiation give a clue to intervene in the target population focusing family related and other modifiable factors.
青少年吸烟问题仍然是一个公共卫生问题,但在斯里兰卡,导致青少年开始吸烟的因素并不为人所知。本研究旨在确定与康提地区公立学校 13-15 岁年龄组在校青少年开始吸烟有关的因素。研究在康提地区选定的以僧伽罗语、泰米尔语和英语授课的公立学校中进行了横断面研究。研究对象采用分层多阶段聚类抽样法选出。研究采用了一份经过预先测试的自填式问卷。研究共纳入了 1395 名学生(男生占 52.9%)。研究共纳入了 1395 名学生(男生占 52.9%),他们开始吸烟与以下因素有明显关系:男生(调整后比值比 (AOR)=26.24; 95% CI=7.49-91.44)、父母是烟民(AOR=6.04; 95% CI=2.83-12.91)、父亲的教育水平低于 GCE O/L(AOR=5.65; 95% CI=2.20-14.49)、母亲受教育程度低于普通教育水平(AOR=2.63;95% CI=1.18-6.25)、家中有吸烟成员(AOR=7.10;95% CI=2.76-18.29)、使用社交网络(AOR=10.73;95% CI=3.63-31.75)以及父母是戒烟者(AOR=0.29;95% CI=0.11-0.79)。这些因素为干预目标人群提供了线索,可重点关注与家庭有关的因素和其他可改变的因素。
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引用次数: 0
Infective Endocarditis - An uncommon presentation of disseminated melioidosis: a case report 感染性心内膜炎--一种不常见的播散性髓鞘病表现:病例报告
Pub Date : 2023-12-31 DOI: 10.4038/amj.v17i3.7786
M. Jazeer, Umakanth Maheswaran
Melioidosis is a potentially fatal bacterial infection involving multiple organ systems and is increasingly being reported in Sri Lanka in recent times. The clinical presentation of the disease varies from localized cutaneous infections to sepsis and death. Involvement of the heart in melioidosis is rare and only a few cases have been described so far in the world literature.Herein we report a case of infective endocarditis in a 53-year-old man with poorly controlled type 2 diabetes mellitus for 5 years duration, who presented with intermittent low-grade fever along with loss of appetite, and malaise for 5 months duration. Examination revealed tachycardia, generalized abdominal tenderness, and coarse crackles on the left lower lobe of the lung. No peripheral stigmata of infective endocarditis or murmur were present. Blood cultures were positive for Burkholderia pseudomallei. 2D echocardiography was performed to exclude infective endocarditis as a cause of prolonged fever which showed a healed vegetation on the mitral valve and contrast-enhanced computerized tomography revealed renal, liver, and lung abscesses with splenic infarctions. A diagnosis of disseminated melioidosis was made. He was successfully treated with three weeks of initial intensive therapy with intravenous meropenem and oral sulfamethoxazole-trimethoprim (TMP-SMX) followed by subsequent three-month eradication therapy with TMP-SMX. Disseminated melioidosis can manifest as infective endocarditis hence a high index of clinical suspicion along with 2D echocardiography and other relevant investigations are crucial for the diagnosis. Initiation of intensive therapy with meropenem in combination with TMP-SMX as an adjunct can be lifesaving.
Melioidosis 是一种可能致命的细菌感染,涉及多个器官系统,近来在斯里兰卡的报告越来越多。该病的临床表现各不相同,从局部皮肤感染到败血症和死亡。在此,我们报告了一例感染性心内膜炎病例,患者 53 岁,患有 2 型糖尿病 5 年,病情控制不佳,出现间歇性低烧、食欲不振和乏力 5 个月。检查发现心动过速、腹部触痛、左肺下叶有粗大的噼啪声。外周没有感染性心内膜炎的体征或杂音。血液培养呈假马勒伯克霍尔德氏菌阳性。二维超声心动图显示二尖瓣上的植被已经愈合,造影剂增强计算机断层扫描显示肾脏、肝脏和肺部脓肿,并伴有脾梗塞。诊断结果为播散性美拉德氏病。他接受了为期三周的静脉注射美罗培南和口服磺胺甲噁唑-三甲氧苄啶(TMP-SMX)的初始强化治疗,随后又接受了为期三个月的TMP-SMX根除治疗,并取得了成功。播散性美拉德氏病可表现为感染性心内膜炎,因此临床高度怀疑以及二维超声心动图和其他相关检查对诊断至关重要。使用美罗培南联合 TMP-SMX 作为辅助治疗,可以挽救患者的生命。
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引用次数: 0
Disappearing diplopia - An unusual presentation of Tolosa-Hunt syndrome: A case report 消失性复视--托洛萨-亨特综合征的一种不寻常表现:病例报告
Pub Date : 2023-12-31 DOI: 10.4038/amj.v17i3.7764
F. Nasim, M. Fasrina, Sunil Bowattage, Kierthie Kularatne
Tolosa-Hunt syndrome (THS) is a rare benign treatable cause of painful ophthalmoplegia with frequent VI, III, IV cranial nerve (CN) involvement. Optic and trigeminal nerve involvement is rare but described. The disease is characterized by severe preceding or concomitant headache and remarkable response to steroids. Although labelled benign residual neurology is not uncommon in THS.We present a case of THS in a middle-aged Sri Lankan male who presented initially with vertical diplopia and normal contrast enhanced CT scan, treated as for idiopathic IV nerve palsy. A month henceforth he developed severe episodic headache with autonomic symptoms, right sided ptosis and progressive visual impairment with improved diplopia, normal fundoscopy, inflammatory and infective markers and autoimmune profile. MRI brain showed enhancing lesion of cavernous sinus extending to orbital apex consistent with THS. He showed dramatic improvement with steroids with complete resolution of neurology at the end of 4 weeks.THS should be considered in a patient presenting with disappearing painful diplopia. Headache may mimic primary headache syndromes and may not precede ophthalmoplegia. Imaging may be initially normal. MRI is mandatory for diagnosis as histology is not always feasible. Steroid responsiveness can be diagnostic if more sinister differentials are ruled out.
托洛萨-亨特综合征(Tolosa-Hunt Syndrome,THS)是一种罕见的可治疗的良性疼痛性眼瘫,常累及Ⅵ、Ⅲ、Ⅳ颅神经(CN)。视神经和三叉神经受累虽然罕见,但也有描述。该病的特点是发病前或同时伴有严重的头痛,对类固醇的反应明显。虽然被称为良性残留神经病在 THS 中并不少见。我们报告了一例斯里兰卡中年男性的 THS 病例,他最初出现垂直复视,对比增强 CT 扫描正常,被当作特发性 IV 神经麻痹治疗。一个月后,他出现严重的发作性头痛,伴有自主神经症状、右侧眼睑下垂和进行性视力障碍,复视有所改善,眼底镜检查、炎症和感染标记物以及自身免疫特征正常。脑部核磁共振成像显示,海绵窦强化病变延伸至眶顶,与THS一致。使用类固醇治疗后,他的病情明显好转,4 周后神经系统症状完全消失。头痛可能与原发性头痛综合征相似,也可能不会先于眼球震颤出现。影像学检查最初可能正常。核磁共振成像是诊断的必备条件,因为组织学检查并非总是可行。如果排除了更多险恶的鉴别因素,类固醇反应可作为诊断依据。
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引用次数: 0
Ectopic conundrum-A case series of unusual presentations of ruptured ectopic pregnancy in a low resource setting in northeast India 异位妊娠难题--印度东北部资源匮乏地区异位妊娠破裂异常表现的病例系列
Pub Date : 2023-12-31 DOI: 10.4038/amj.v17i3.7758
Pushpal Chowdhury
Ectopic pregnancy is a major contributor to maternal morbidity and mortality in the first trimester of pregnancy. The management of ruptured ectopic pregnancy accompanied by features of severe blood loss requires concurrent resuscitation and laparotomy to save precious life. Here we present a series of cases of ruptured ectopic pregnancy deviated from the expected intraoperative findings and the associated challenges in their management in a low-resource setting in a district hospital in North East India.
宫外孕是妊娠头三个月孕产妇发病和死亡的主要原因。处理伴有严重失血特征的异位妊娠破裂时,需要同时进行抢救和开腹手术,以挽救宝贵的生命。在此,我们介绍了一系列偏离术中预期结果的异位妊娠破裂病例,以及在印度东北部一家地区医院的低资源环境中处理这些病例所面临的相关挑战。
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引用次数: 0
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Anuradhapura Medical Journal
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