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 Prevalence and correlates of depression in patients with epilepsy in Sri Lanka(The Sri Lanka Medical Association, 2021) de Silva, S.; Isuru, A.; Rodrigo, A.; Kuruppuarachchi, L.Background: Depression is one of the most common psychiatric disorder in patients with epilepsy and it is often associated with poor quality of life, increased risk of suicide and poor seizure control, yet remains underdiagnosed and undertreated. The prevalence and associations for depression in patients with epilepsy vary between studies reflecting regional and cultural influences. Therefore, it is important to identify unique attributes within a community on this phenomenon This is the first study from Sri Lanka on the prevalence and correlates of depression in patients with epilepsy. Method: We conducted this cross-sectional study at the Epilepsy clinic, Colombo North Teaching Hospital, Ragama. All consenting patients with a diagnosis of epilepsy followed up at the clinic, during study period, were enrolled. Symptoms of depression were screened with Beck Depression Inventory II and diagnosis was confirmed with a clinical assessment by psychiatrist. Results: Of 150 participants, majority were female 63.3%. (95) and 36.7% (55) of the sample were between 26-45 years. The prevalence of depressive disorder was 22% (33). The prevalence of depression was significantly associated with the recent diagnosis of epilepsy, use of multiple antiepileptic medications and duration of seizure free period (p<0.05). There is a statistically significant association between prevalence of depression with the use of carbamazepine, topiramate, clobazam and phenobarbitone. Regression analysis revealed higher the duration individuals suffering from epilepsy were at lower odds of having depression compared with that of individuals suffering from lower duration of epilepsy. For each year in increase of duration of epilepsy, the odds of depression decreased by 2% (95% CI 0.3% to 5.1%) Conclusion: The prevalence of depression is high in patients with epilepsy. Risk of having depression is higher during the early phase of the illness. Therefore, it is important to screen patients with epilepsy for depressive disorder during the early course of the illness.