Journal/Magazine Articles
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This collection contains original research articles, review articles and case reports published in local and international peer reviewed journals by the staff members of the Faculty of Medicine
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Item 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 A case of multiple sulfatase deficiency(Sri Lanka College of Paediatricians, 2022) Razeen, Z.; Suriapperuma, T.; Fernando, S.; Munasinghe, R.; Jasinge, E.; Panapitiya, M.No abstract availableItem Autoimmune thyroiditis presenting as acute onset pure chorea without encephalopathy(Sri Lanka College of Paediatricians, 2022) Munasinghe, R.; Razeen, Z.; Suriapperuma, T.; Fernando, S.; Panapitiya, M.No abstract availableItem Focal seizures as first presentation of Pepper syndrome in a six-week-old girl(Sri Lanka College of Paediatricians, 2022) Sandakelum, U.; Balasubramaniam, R.; Fernando, M.; Gunasekera, S.; Ganewatte, E.; Fernando, S.; Dissanayake, D.No abstract availableItem Possible progression of an atypical leiomyoma to a leiomyosarcoma: a case report(Menopause Society of Sri Lanka, 2021) Ekanayake, C.D.; Herath, R.; Fernando, S.; Mahendra, G.; Balawardene, J.; de Silva, A.The spectrum of uterine smooth muscle cell tumours (SMT) ranges from leiomyomas to leiomyosarcomas (LMS). Atypical leiomyomas (AL) are a uterine SMT of a contentious nature due to its indeterminate malignant potential. Although the risk of recurrence is low there is limited experience on management. On the other hand, it is generally believed that the uterine LMS arises de novo, rather than from a precursor lesion.Item Hysterectomy-need of a paradigm shift(Sri Lanka College of Obstetricians and Gynaecologists, 2012) Fernando, S.No Abstract AvailableItem Attitudes toward prenatal diagnosis and termination of pregnancy for genetic disorders among healthcare workers in a selected setting in Sri Lanka(Wiley, 2008) de Silva, D.C.; Jayawardana, P.; Hapangama, A.; Suraweera, E.G.D.N.; Ranjani, D.; Fernando, S.; Karunasena, C.; Jinadasa, S.