{"title":"Neonatal presentation of Niemann-Pick disease type C2- A rare case report.","authors":"Vinaya Singh, Kailas Randad, Pushpa Yadav, Tejasi Sawant, Qudsiya Ansari","doi":"10.4038/amj.v17i3.7770","DOIUrl":"https://doi.org/10.4038/amj.v17i3.7770","url":null,"abstract":"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.","PeriodicalId":30600,"journal":{"name":"Anuradhapura Medical Journal","volume":" 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139135847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sujeewa Thalgaspitiya, B. Wijerathne, Mahesh Madusanka
{"title":"The wild boar Sus scrofa cristatus attacks in Sri Lanka: a case series and review of literature","authors":"Sujeewa Thalgaspitiya, B. Wijerathne, Mahesh Madusanka","doi":"10.4038/amj.v17i3.7802","DOIUrl":"https://doi.org/10.4038/amj.v17i3.7802","url":null,"abstract":"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.","PeriodicalId":30600,"journal":{"name":"Anuradhapura Medical Journal","volume":" 760","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139136432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
K. Maduranga, Wasantha Karunarathne, C. Sarathchandra, H. Senanayake
{"title":"Granulomatosis with polyangiitis presenting as acute ischemic stroke- A case of an unusual presentation","authors":"K. Maduranga, Wasantha Karunarathne, C. Sarathchandra, H. Senanayake","doi":"10.4038/amj.v17i3.7778","DOIUrl":"https://doi.org/10.4038/amj.v17i3.7778","url":null,"abstract":"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.","PeriodicalId":30600,"journal":{"name":"Anuradhapura Medical Journal","volume":"125 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139134757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pavithera Packiyarajah, Umakanth Maheshwaran, M. Nusair
{"title":"Severe rhabdomyolysis following a possible sea snake bite: A case report","authors":"Pavithera Packiyarajah, Umakanth Maheshwaran, M. Nusair","doi":"10.4038/amj.v17i3.7817","DOIUrl":"https://doi.org/10.4038/amj.v17i3.7817","url":null,"abstract":"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.","PeriodicalId":30600,"journal":{"name":"Anuradhapura Medical Journal","volume":" 1059","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139136587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Piyumali Nawarathne, Wasantha Karunaratne, P. Weerawansa, H. Senanayake
{"title":"Cerebellar stroke in a young female associated with elevated homocysteine levels and heterozygous MTHFR C677T gene: A case report.","authors":"Piyumali Nawarathne, Wasantha Karunaratne, P. Weerawansa, H. Senanayake","doi":"10.4038/amj.v17i3.7792","DOIUrl":"https://doi.org/10.4038/amj.v17i3.7792","url":null,"abstract":"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.","PeriodicalId":30600,"journal":{"name":"Anuradhapura Medical Journal","volume":"24 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139132781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A rare case of Systemic Lupus Erythematosus presenting as acute myopericarditis with bilateral pleural effusions.","authors":"Indika Wettasinghe, Arjunar Elanko, Shiran Puthra, Asanka Ratnayake, Rajananthini Thambippillai, C. Ponnamperuma, Aflah Sadeekin, Suresh Mendis","doi":"10.4038/amj.v17i3.7765","DOIUrl":"https://doi.org/10.4038/amj.v17i3.7765","url":null,"abstract":"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.","PeriodicalId":30600,"journal":{"name":"Anuradhapura Medical Journal","volume":"112 44","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139133153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Factors associated with initiation of tobacco smoking among schooling adolescents in the age group of 13 – 15 years in the Kandy district, Sri Lanka","authors":"Roshan Rambukwella, Devani Dissanayake","doi":"10.4038/amj.v17i3.7816","DOIUrl":"https://doi.org/10.4038/amj.v17i3.7816","url":null,"abstract":"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.","PeriodicalId":30600,"journal":{"name":"Anuradhapura Medical Journal","volume":"110 39","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139134693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Infective Endocarditis - An uncommon presentation of disseminated melioidosis: a case report","authors":"M. Jazeer, Umakanth Maheswaran","doi":"10.4038/amj.v17i3.7786","DOIUrl":"https://doi.org/10.4038/amj.v17i3.7786","url":null,"abstract":"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.","PeriodicalId":30600,"journal":{"name":"Anuradhapura Medical Journal","volume":"3 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139135644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
F. Nasim, M. Fasrina, Sunil Bowattage, Kierthie Kularatne
{"title":"Disappearing diplopia - An unusual presentation of Tolosa-Hunt syndrome: A case report","authors":"F. Nasim, M. Fasrina, Sunil Bowattage, Kierthie Kularatne","doi":"10.4038/amj.v17i3.7764","DOIUrl":"https://doi.org/10.4038/amj.v17i3.7764","url":null,"abstract":"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.","PeriodicalId":30600,"journal":{"name":"Anuradhapura Medical Journal","volume":" 564","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139136855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Ectopic conundrum-A case series of unusual presentations of ruptured ectopic pregnancy in a low resource setting in northeast India","authors":"Pushpal Chowdhury","doi":"10.4038/amj.v17i3.7758","DOIUrl":"https://doi.org/10.4038/amj.v17i3.7758","url":null,"abstract":"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.","PeriodicalId":30600,"journal":{"name":"Anuradhapura Medical Journal","volume":" 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139135666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}