Medicine
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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty
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Item Psychosis after SARS-CoV-2 (COVID-19) infection.(Sri Lanka College of Psychiatrists, 2022) Harshini, M.L.; Jayasundara, D.M.S.P.; Williams, S.S.Psychiatric manifestations associated with COVID-19 infection have become a subject of study in the wake of the global pandemic. Some psychiatric disorders such as anxiety and depression are well recognized with the COVID-19 infection while overt psychosis is less so.We present four cases of first-onset psychotic episodes with a clear temporal relationship to COVID-19 infection. They appear mainly affective in nature, although only time will determine their eventual progression.Item Autoimmune hepatitis and acquired partial lipodystrophy.(BMJ Pub. Group,London, 2022) Bakewell, C.; Dayasiri, K.; Brown, R.M.; Rodrigues, A.; Williams, R.; Anand, G.; Gupte, G.L.The lipodystrophies are an extremely rare group of metabolic conditions which are categorised based on their pathogenesis and phenotype. While primarily known for the striking loss of subcutaneous adipose tissue which they induce, they may also be associated with significant liver injury. In most cases, this results from the secondary deposition of lipid within hepatic parenchyma and is seen predominantly in generalised lipodystrophy. More rarely, patients may develop autoimmune hepatitis. We report a rare case of a 17-month-old boy who developed features of acquired partial lipodystrophy in association with anti-LKM1-positive autoimmune hepatitis following initial presentation with a Henoch-Schönlein purpura-like illness. We describe his challenging path to diagnosis and discuss his ongoing management in an effort to further our understanding of this rare but significant association. This report highlights the need for close clinical observation and a high index of suspicion for recognising early features of lipodystrophy.Item Arthrogryposis multiplex congenita in a child with congenital fractures: a case report(BioMed Central, London, 2022) Dayasiri, K.; Jayaweera, H.Background: Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta, inherited autosomal recessively and presenting with the concurrence of bone fragility and congenital contractures of large joints. The disease usually progresses relentlessly to result in recurrent fractures, short stature, severe kyphoscoliosis, and susceptibility to recurrent respiratory tract infections.Case presentation: The index child was a male newborn to healthy, nonconsanguineous, Sinhalese parents. The child had multiple contractures involving all large joints with pterigium formation in addition to congenital fractures involving left humerus and ulna at birth. The phenotypic features in this child were highly suggestive of Bruck syndrome. Genetic counseling was offered to the parents, although specific genetic testing could not be undertaken due to lack of resources. Bone and skin biopsy were not performed since only palliative care was possible. Over the course, he developed recurrent severe chest infections due to poor muscle tone, weak cough reflex, and pooling of secretions. Unfortunately, he succumbed at the age of 7 months following severe pneumonia.Conclusion: The association of arthrogryposis with osteogenesis imperfecta is extremely rare and known as Bruck syndrome. Early diagnosis during the antenatal period is helpful in genetic counseling, assessment of severity, and exploration of therapeutic options.Item Acute appendicitis during the recovery phase of dengue hemorrhagic fever: two case reports(BioMed Central, 2022) Thadchanamoorthy, V.; Ganeshrajah, A.; Dayasiri, K.; Jayasekara, N.P.Background: Dengue fever is one of the most common tropical diseases, with high prevalence in many tropical countries including Sri Lanka. Dengue infection can present from subclinical infection to dengue shock syndrome. Further, the disease also shows a variety of atypical presentations and has been reported to mimic a number of causes of acute abdomen. Case presentation: The authors report two children (a 6-year-old Tamil girl and an 8-year-old Muslim girl) who were diagnosed to have acute appendicitis during the early recovery phase of dengue hemorrhagic fever (DHF) and late recovery period of dengue hemorrhagic fever with platelet count of 92 × 103/cumm and 102 × 103/cumm, respectively. Both children were investigated with abdomen ultrasound as they developed severe abdominal pain and tenderness on palpation during the recovery phase, which was felt to be very unusual. Acute appendicitis was diagnosed in one child, while the other child had a ruptured appendicular abscess. Both children were treated with laparoscopic appendectomy and a 7-day course of intravenous antibiotics. Both children were reviewed in 1 month following treatment and had complete recovery. Conclusion: Although precise pathophysiology and associations of the surgical abdomen with dengue fever remain to be elucidated, there are known factors in dengue fever that can potentially lead to secondary bacterial infections and surgical abdomen. Awareness and increased suspicion by the clinician are paramount to detect such complications early, especially in children who demonstrate unusual clinical features during various stages of dengue infection.Item Expanded dengue syndrome presenting with acute liver failure, acute kidney injury, pancreatic involvement, coagulopathy, and multiple intracranial hemorrhages in a young child: a case report(BioMed Central, 2022) Thadchanamoorthy, V.; Dayasiri, K.Background: Dengue is a mosquito-borne viral infection that typically occurs in tropical and subtropical countries. The clinical manifestations of dengue infection range from an asymptomatic subclinical course to severe dengue shock syndrome. Besides, dengue can affect any organ in the body and can present with atypical manifestations. Case presentation: We report a 6-year-old previously healthy Tamil child who had dengue complicated with multiorgan involvement. She initially presented with high fever, headache, body aches for 5 days, blood and mucus diarrhea, hematuria, and right knee joint swelling for 2 days. Dengue NS1 antigen was positive on day 2 of febrile illness. She was managed symptomatically in the local hospital for 3 days and transferred to the tertiary care hospital for further management. She was eventually diagnosed as having dengue hemorrhagic fever complicated with multiorgan involvement including acute liver failure, pancreatic involvement, coagulopathy, arthritis, acute kidney injury, and multiple intracranial hemorrhages. The constellation of disease manifestations was identified as expanded dengue syndrome. She was managed with fresh blood, platelet, and cryoprecipitate transfusions and intravenous antibiotics in addition to renal and liver support in the intensive care unit. On day 14 of illness, she deteriorated while on the ventilator and died due to multiple intracranial hemorrhages. Conclusion: The reported child with dengue hemorrhagic fever developed several unusual presentations such as acute liver and renal failure, disseminated intravascular coagulopathy, pancreatic involvement, and multiple intracranial hemorrhages, which form part of expanded dengue syndrome. In the seriously unwell child, it is important to look for unusual complications actively to improve outcomes.Item Unexplained Tachypneoa and severe metabolic acidosis in a three-month-old child: A rare presentation of beta-ketothiolose deficiency(Cureus, 2022) Thadchanamoorthy, V.; Dayasiri, K.Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is a rare inborn error of metabolism that is characterized by impaired metabolism of ketones and isoleucine. The condition is inherited as an autosomal recessive disorder. Herein, we present a child with T2 deficiency from Mahaoya, Eastern Province, Sri Lanka. This three-month-old child presented with fever, difficulty in breathing, and irritability for one day and was subsequently found to have severe metabolic acidosis with positive ketone bodies in urine. His blood glucose was normal. Metabolic screening showed increased urinary excretion of 2-methyl-3-hydroxybutyrate (2M3HB), 2-methyl acetoacetate (2MAA), and tiglylglycine (TIG). He was diagnosed to have beta-ketothiolase deficiency based on biochemical studies. Genetic studies were not done due to financial constraints in the family. Severe metabolic acidosis was successfully managed with intravenous sodium bicarbonate infusion. T2 deficiency would be a differential diagnosis in children with unsolved ketoacidosis. Children with T2 deficiency have a better outcome if detected and managed early. The reported patient had age-appropriate growth and development at the latest follow-up at three years eight months while he has been on oral carnitine and bicarbonate.Item Ectopic pancreatic rest in the stomach(College of Surgeons of Sri Lanka, 2020) Pinto, D.; Kumarage, S.; Mahendra, G.No abstract availableItem Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report(BioMed Central, 2018) Jayamanne, C.; Sandamal, S.; Jayasundara, K.; Saranavananthan, M.; Mettananda, S.BACKGROUND: Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay. Here we report the case of a 3-year-old, previously undiagnosed, child with Smith-Lemli-Opitz syndrome presenting with acute adrenal crisis, which is an extremely rare and atypical presentation of this disease. CASE PRESENTATION: A 3-year-old Sri Lankan Sinhalese boy without evidence of infection presented with circulatory collapse. He had a normal perinatal period; however, his early infancy was complicated by poor feeding, episodes of loose stools, failure to thrive, and several episodes of unexplained drowsiness. His weight, height, and occipitofrontal circumference were well below the third percentile. He had soft dysmorphic features that included microcephaly, bitemporal narrowing, upward slanting eyes, epicanthal folds, partial ptosis, broad nasal bridge, low set posteriorly rotated ears, high arched palate, and short neck. Marked hyperpigmentation was noted in perioral, buccal, and palmar areas. His pulses were rapid and low in volume and his systolic blood pressure was low. Initial resuscitation was performed by administering multiple crystalloid fluid boluses. A septic screen was negative. His blood glucose and serum bicarbonate levels were low and serum electrolytes revealed hyponatremia with hyperkalemia. Serum spot cortisol level was low normal and 17-hydroxyprogesterone level was low. Diagnosis of Smith-Lemli-Opitz syndrome and associated adrenal crisis was made based on clinical and biochemical features. Intravenously administered hydrocortisone was commenced to which he showed a marked clinical response. CONCLUSIONS: This case describes a rare and atypical presentation of Smith-Lemli-Opitz syndrome and highlights the importance of making early and accurate syndromic diagnoses in children with dysmorphism to avoid sudden and life-threatening complications.Item Use of a public-private partnership in malaria elimination efforts in Sri Lanka; a case study(BioMed Central, 2018) Fernando, D.; Wijeyaratne, P.; Wickremasinghe, R.; Abeyasinghe, R.R.; Galappaththy, G.N.L.; Wickremasinghe, R.; Hapugoda, M.; Abeyewickreme, W.; Rodrigo, C.BACKGROUND: In special circumstances, establishing public private partnerships for malaria elimination may achieve targets faster than the state sector acting by itself. Following the end of the separatist war in Sri Lanka in 2009, the Anti Malaria Campaign (AMC) of Sri Lanka intensified malaria surveillance jointly with a private sector partner, Tropical and Environmental Diseases and Health Associates Private Limited (TEDHA) with a view to achieving malaria elimination targets by 2014. METHODS: This is a case study on how public private partnerships can be effectively utilized to achieve malaria elimination goals. TEDHA established 50 Malaria Diagnostic Laboratories and 17 entomology surveillance sentinel sites in consultation with the AMC in areas difficult to access by government officials (five districts in two provinces affected by war). RESULTS: TEDHA screened 994,448 individuals for malaria, of which 243,867 were screened at mobile malaria clinics as compared to 1,102,054 screened by the AMC. Nine malaria positives were diagnosed by TEDHA, while the AMC diagnosed 103 malaria cases in the same districts in parallel. Over 13,000 entomological activity days were completed. Relevant information was shared with AMC and the data recorded in the health information system. CONCLUSIONS: A successful public-private partnership model for malaria elimination was initiated at a time when the health system was in disarray in war ravaged areas of Sri Lanka. This ensured a high annual blood examination rate and screening of vulnerable people in receptive areas. These were important for certification of malaria-free status which Sri Lanka eventually received in 2016.Item Possible gasoline-induced chronic liver injury due to occupational malpractice in a motor mechanic: a case report(BioMed Central, 2017) Gunathilaka, M.L.; Niriella, M.A.; Luke, N.V.; Piyarathna, C.L.; Siriwardana, R.C.; de Silva, A.P.; de Silva, H.J.BACKGROUND: Hydrocarbon-induced occupational liver injury is a well-known clinical entity among petroleum industry workers. There are many types of hydrocarbon exposure, with inhalation being the most common. Hydrocarbon-induced occupational liver injury is a rarely suspected and commonly missed etiological agent for liver injury. We report a case of a non-petroleum industry worker with chronic liverdisease secondary to hydrocarbon-induced occupational liver injury caused by chronic low-grade hydrocarbon ingestion due to occupationalmalpractice. CASE PRESENTATION: A 23-year-old Sri Lankan man who was a motor mechanic presented to our hospital with decompensated cirrhosis. He had been chronically exposed to gasoline via inadvertent ingestion due to occupational malpractice. He used to remove gasoline from carburetors by sucking and failed to practice mouth washing thereafter. On evaluation, he had histologically proven established cirrhosis. A comprehensive history and workup ruled out other nonoccupational etiologies for cirrhosis. The patient's long-term occupational gasoline exposure and clinical course led us to a diagnosis of hydrocarbon-induced occupational liver injury leading to decompensated cirrhosis. CONCLUSIONS: Hydrocarbon-induced occupational liver injury should be considered as a cause when evaluating a patient with liver injurywith possible exposure in relevant occupations.