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Intracranial Calcification and Seizure with Down Syndrome: A Case Report
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 vitam...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Journal of the Nepal Medical Association
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9795128/ https://www.ncbi.nlm.nih.gov/pubmed/36705097 http://dx.doi.org/10.31729/jnma.7950 |
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author | Rai, Nilshan Thapa, Monika Pokharel, Merina Acharya, Jinee Yadav, Dhirendra |
author_facet | Rai, Nilshan Thapa, Monika Pokharel, Merina Acharya, Jinee Yadav, Dhirendra |
author_sort | Rai, Nilshan |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9795128 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Journal of the Nepal Medical Association |
record_format | MEDLINE/PubMed |
spelling | pubmed-97951282023-01-04 Intracranial Calcification and Seizure with Down Syndrome: A Case Report Rai, Nilshan Thapa, Monika Pokharel, Merina Acharya, Jinee Yadav, Dhirendra JNMA J Nepal Med Assoc Case Report 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. Journal of the Nepal Medical Association 2022-12 2022-12-31 /pmc/articles/PMC9795128/ /pubmed/36705097 http://dx.doi.org/10.31729/jnma.7950 Text en © The Author(s) 2018. https://creativecommons.org/licenses/by/4.0/This is an Open-Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Rai, Nilshan Thapa, Monika Pokharel, Merina Acharya, Jinee Yadav, Dhirendra Intracranial Calcification and Seizure with Down Syndrome: A Case Report |
title | Intracranial Calcification and Seizure with Down Syndrome: A Case Report |
title_full | Intracranial Calcification and Seizure with Down Syndrome: A Case Report |
title_fullStr | Intracranial Calcification and Seizure with Down Syndrome: A Case Report |
title_full_unstemmed | Intracranial Calcification and Seizure with Down Syndrome: A Case Report |
title_short | Intracranial Calcification and Seizure with Down Syndrome: A Case Report |
title_sort | intracranial calcification and seizure with down syndrome: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9795128/ https://www.ncbi.nlm.nih.gov/pubmed/36705097 http://dx.doi.org/10.31729/jnma.7950 |
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