Browsing by Author "Pokharel, Merina"
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Publication D-penicillamine Induced Myasthenia Gravis in Wilson’s Disease: A Case Report(Nepal Medical Association, 2022) Thapa, Lekhjung; Thapa, Monika; Bhattarai, Suman; Shrestha, Abhishek Man; Sharma, Nooma; Rai, Nilshan; Pokharel, Merina; Paudel, RajuAbstract Myasthenia gravis is a neuromuscular junction disorder characterised by fluctuating muscle weakness, improved by using anti-cholinesterase drugs. In addition to the autoimmune aetiology, various factors such as infections, surgery, and drugs are known to precipitate the condition. We report a case of a 15-year-old boy with D-penicillamine-induced myasthenia gravis who presented with facial diplegia, dysphagia, and drooling of saliva, 6 years after the initiation of treatment for Wilson’s disease. Therefore, clinicians should be more vigilant while prescribing patients with chelating drugs like D-penicillamine with regular monitoring of the new symptoms and keeping a very low threshold for the suspicion of myasthenia gravis.Publication Intracranial Calcification and Seizure with Down Syndrome: A Case Report(Nepal Medical Association, 2022) Rai, Nilshan; Thapa, Monika; Pokharel, Merina; Acharya, Jinee; Yadav, DhirendraAbstract Down syndrome is a genetic disorder caused by an extra copy of chromosome number 21. New onset of seizure in adults with Down syndrome is rare. The exact pathogenesis of intracranial calcification and seizure in Down syndrome is unknown, however, a possible association between hypocalcemia and vitamin D deficiency in Down syndrome was reported. An 18-year-old girl with nasal bridge, mongoloid slants, clinodactyly and saddle gap of toes, and prominent Downs phenotypes was present with a low level of parathyroid hormone, calcium, and vitamin D. Due to a higher prevalence of intracranial calcification in people with Down syndrome, there is an increased possibility of hypocalcemia and vitamin D deficiency. Hence, serum levels of calcium and vitamin D should always be checked before starting treatment with anti-epileptic drugs.Publication Intracranial Calcification and Seizure with Down Syndrome: A Case Report(Nepal Medical Association, 2022) Rai, Nilshan; Thapa, Monika; Pokharel, Merina; Acharya, Jinee; Yadav, DhirendraAbstract Down syndrome is a genetic disorder caused by an extra copy of chromosome number 21. New onset of seizure in adults with Down syndrome is rare. The exact pathogenesis of intracranial calcification and seizure in Down syndrome is unknown, however, a possible association between hypocalcemia and vitamin D deficiency in Down syndrome was reported. An 18-year-old girl with nasal bridge, mongoloid slants, clinodactyly and saddle gap of toes, and prominent Downs phenotypes was present with a low level of parathyroid hormone, calcium, and vitamin D. Due to a higher prevalence of intracranial calcification in people with Down syndrome, there is an increased possibility of hypocalcemia and vitamin D deficiency. Hence, serum levels of calcium and vitamin D should always be checked before starting treatment with anti-epileptic drugs.