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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty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 An unusual presentation of caudothalamic haemorrhage as fever in a term neonate(Perinatal Society of Sri Lanka, 2024-11) Wickramaarachchi, W.M.S.K.K.; Jayalath, A.G.I.U.; Randeny, S.; Mettananda, S.No abstract availableItem A novel mutation in the SLCO2A1 gene presenting as persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy: A case report(BioMed Central, 2024-11) Mettananda, S.; Bandara, P.; Rajeindran, M.; Padeniya, P.BACKGROUND The SLCO2A1 gene encodes a prostaglandin transporter and we report a novel mutation causing hypoproteinaemia and refractory anaemia due to chronic enteropathy.Case PRESENTATION An 18-year-old boy of consanguineous parents was investigated for hypoproteinaemia and anaemia. He was short, pale and had generalised oedema. Investigations revealed haemoglobin 5.8 g/dL; hypochromic microcytic anaemia; low serum protein, albumin, globulin, ferritin and iron. Bone marrow aspiration revealed low iron stores. Upper and lower gastrointestinal endoscopies showed moderate gastritis, duodenitis, and non-specific patchy inflammation in the rectum. The whole exome sequencing revealed a homozygous missense mutation in SCLO2A1 gene (NP_005621.2:p.Arg97Cys; rs761212094). Sanger sequencing of the sibling with milder phenotype revealed same homozygous mutation, and carrier father was heterozygous.CONCLUSION We report a novel mutation of SLCO2A1 gene causing severe persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy helping to delineate genotype-phenotype correlation of SLCO2A1 variants.Item Deferoxamine, deferasirox, and deferiprone triple iron chelator combination therapy for transfusion-dependent β-thalassaemia with very high iron overload: a randomised clinical trial(Elsevier Ltd, 2024-10) Premawardhena, A.; Wanasinghe, S.; Perera, C.; Wijethilaka, M.N.; Rajakaruna, R.H.M.G.; Samarasinghe, R.A.N.K.K.; Williams, S.; Mettananda, S.BACKGROUND Many patients with β-thalassaemia die prematurely due to iron overload. In this study, we aim to evaluate the efficacy and safety of the triple combination of deferoxamine, deferasirox and deferiprone on iron chelation in patients with transfusion-dependent β-thalassaemia with very high iron overload.METHODS This open-label, randomised, controlled clinical trial was conducted at Colombo North Teaching Hospital, Sri Lanka. Transfusion-dependent β-thalassaemia patients with ferritin >3500 ng/mL were randomised 2:1 into intervention (deferoxamine, deferasirox and deferiprone) and control (deferoxamine and deferasirox) arms. Reduction in serum ferritin after six months was the primary outcome measure. Reduction in liver iron content, improvement in cardiac T2∗, and adverse effects were secondary outcome measures.FINDINGS Twenty-three patients (intervention-15, control-8) were recruited. 92% and 62% in the intervention and control arms showed a reduction in ferritin, respectively. The mean reduction of ferritin was significantly higher in intervention (−1094 ± 907 ng/mL) compared to control (+82 ± 1588 ng/mL) arm (p = 0.042). There was no statistically significant difference in the liver iron content in two arms. In the intervention arm, 67% improved cardiac T2∗ (mean change +6.72 ± 9.63 ms) compared to 20% in the control arm (mean change −3.00 ± 8.24 ms). Five patients discontinued deferiprone due to arthralgia, which resolved completely after stopping the drug.INTERPRETATION Triple combination therapy with deferoxamine, deferasirox and deferiprone is more efficacious in reducing iron burden measured by serum ferritin and showed a positive trend in reducing myocardial iron content in patients with transfusion-dependent β-thalassaemia with very high iron overload. Deferiprone has the disturbing side effect of reversible but severe arthropathy.Item Spontaneous ovarian hyperstimulation syndrome as a presenting manifestation of acquired hypothyroidism(Sri Lanka College of Paediatricians, 2024) Kaluarachchi, D.P.; Casather, D.M.; Rathnayaka, R.M.A.N.; Ramachandran, R.; Herath, R.; Mettananda, S.No abstract availableItem Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: A case report(BioMed Central, 2024) Bandara, P.; Wijenayake, W.; Fernando, S.; Padeniya, P.; Mettananda, S.BACKGROUND Vitamin B12 deficiency is a recognised cause of neurological manifestations, including peripheral neuropathy, behavioural changes, and seizures. However, developmental and epileptic encephalopathy due to vitamin B12 deficiency is very rare. Here, we report an infant with vitamin B12-responsive developmental and epileptic encephalopathy due to a novel mutation in the fucosyltransferase 2 (FUT2) gene responsible for vitamin B12 absorption.CASE PRESENTATION An 11-month-old girl of non-consanguineous parents presented with recurrent episodes of seizures since four months. Her seizures started as flexor epileptic spasms occurring in clusters resembling infantile epileptic spasms syndrome with hypsarrhythmia in the electroencephalogram. She was treated with multiple drugs, including high-dose prednisolone, vigabatrin, sodium valproate, levetiracetam and clobazam, without any response, and she continued to have seizures at 11 months. She had an early developmental delay with maximally achieving partial head control and responsive smile at four months. Her development regressed with the onset of seizure; at 11 months, her developmental age was below six weeks. On examination, she was pale and had generalised hypotonia with normal muscle power and reflexes. Her full blood count and blood picture revealed macrocytic anaemia with oval and round macrocytes. Bone marrow aspiration showed hypercellular marrow erythropoiesis with normoblastic and megaloblastic maturation. Due to the unusual association of refractory epilepsy and megaloblastic anaemia, a rare genetic disease of the vitamin B12 or folate pathways was suspected. The whole exome sequencing revealed a homozygous missense variant in exon 2 of the FUT2 gene associated with reduced vitamin B12 absorption and low plasma vitamin B12 levels, confirming the diagnosis of vitamin B12 deficiency related developmental and epileptic encephalopathy. She was started on intramuscular hydroxocobalamin, for which she showed a marked response with reduced seizure frequency.CONCLUSION We report a novel variant in the FUT2 gene associated with vitamin B12-responsive developmental and epileptic encephalopathy and megaloblastic anaemia. This case report highlights the importance of timely genetic testing in children with refractory developmental and epileptic encephalopathy to identify treatable causes.Item Methotrexate-induced leukoencephalopathy presenting as acute-onset limb weakness in a child: A case report(BioMed Central, 2024) Pathiraja, H.; Abrew, G.D.; De Silva, L.; Fernando, S.; Randeny, S.; Mettananda, S.BACKGROUND Methotrexate is an essential medicine used to treat childhood malignancies including acute lymphoblastic leukemia. Neurotoxicity manifesting as leukoencephalopathy is an important adverse effect of methotrexate. Methotrexate-induced leukoencephalopathy classically demonstrates sub-acute-onset neurological manifestations that include learning disability, progressive dementia, drowsiness, seizures, ataxia, and hemiparesis. These are rare in children and are generally reported following intrathecal or intravenous use of methotrexate. In contrast, acute onset neurotoxicity with oral use of methotrexate is very rare. We report a 10-year-old boy presenting with acute onset limb weakness and neurological signs due to methotrexate-induced leukoencephalopathy following oral methotrexate.CASE PRESENTATION A 10-year-old Sri Lankan boy presented with fever and headache for 5 days and difficulty in walking for 2 days. He was unable to stand unaided on admission, and his parents complained of repetitive, involuntary extension movements involving the right upper limb. He is a child diagnosed with acute lymphoblastic leukemia who was on treatment for a relapse with daily oral dexamethasone and mercaptopurine, weekly oral methotrexate and folinic acid, and once every two weeks intrathecal vincristine. On examination, he had dystonic movements of the right upper limb and hypotonia and reduced muscle power (grade 3/5) of the left upper and lower limbs proximally and distally. The muscle power of the right side was grade 4 (out of 5). Tendon reflexes were diminished in all four limbs, and the plantar response was flexor bilaterally. The child had dysmetria and intension tremors on both sides. T2-weighted magnetic resonance imaging of the brain revealed symmetrical high signal intensities with diffusion restriction involving bilateral putamen, subcortical areas, and deep white matter, suggesting treatment-related neurotoxicity due to methotrexate-induced leukoencephalopathy. Oral methotrexate was discontinued. He showed gradual improvement in limb weakness and other neurological signs following treatment with intravenous folinic acid, aminophylline, dexamethasone, and oral dextromethorphan.CONCLUSION This case report describes a patient with rapidly progressing methotrexate-induced leukoencephalopathy following oral methotrexate. It highlights that the risk of neurotoxicity persists even with the oral use of methotrexate; therefore, the prescribers should be vigilant of this uncommon side effect.Item Management of immune thrombocytopenia in children(Sri Lanka College of Paediatricians, 2024) Mettananda, S.No abstract availableItem 6379 Pre-admission management of children presenting with febrile illness in a tertiary hospital of Sri Lanka(BMJ, 2024) Arunath, V.; Mettananda, S.OBJECTIVES To describe the symptoms and pre-admission management of children presenting with febrile illness to the Colombo North Teaching Hospital, Ragama, Sri Lanka.METHODS A retrospective descriptive study was conducted at University Paediatric Unit of Colombo North Teaching Hospital, Ragama, Sri Lanka. Data on pre-admission management of all children admitted with febrile illness from July to December 2019 were extracted from patient records. Children who were transferred from other units, children with chronic illnesses and children developed fever following vaccinations were excluded. Ethical approval was obtained from Ethics Review Committee of Sri Lanka College of Paediatricians and data was analysed using SPSS version 22.RESULTS A total of 366 children were admitted; 56% were males. Mean age was 53.5 ± 41.7 months and the majority were from Gampaha district. Mean duration of illness on admission was 3.6 ± 2.5 days. 236 (65.6%) patients had recorded fever spikes at home while 150 (60.7%) reported a contact history of fever. Common associated symptoms were cough (62.3%), cold (56%) and vomiting (39.6%). 199 (54.5%) underwent investigations prior to admission and full blood count was the commonest (47.5%) investigation. Although 357 (97.8%) had taken medication prior to admission, only 87.3% had consulted a doctor. 356 (97.3%) received paracetamol at home of which 24 (7.9%) and 123 (40.6%) received sub-therapeutic and supra-therapeutic doses respectively. Significantly higher proportion (44.9%) of children who consulted a doctor received appropriate dose of paracetamol compared to others (3.7%), (c2=11.9, p=0.003, p<001). Higher proportion children who had recorded fever spikes consulted a doctor (c2=3.99, p=0.046, p<0.05) and received therapeutic doses of paracetamol prior to admission (c2=4.94, p=0.026, p<0.05).CONCLUSION Use of sub- and supra-therapeutic doses of paracetamol was common before admission to the hospital. Recording temperature at home and medical consultation prior to admission were associated with appropriate dose paracetamol usage (p<005).Item Spondylometaphyseal dysplasia in a 2-year-old Sri Lankan girl(The Sri Lanka Collage of Paediatricians, 2024) Madawala, P.; Lokuhewage, C.; Bandara, S.; Randeny, S.; Mettananda, S.No abstract availableItem GDF15 molecule is responsible for low body mass index in children with thalassaemia(Sri Lanka College of Paediatricians, 2024) Mettananda, S.No abstract available