Lissencephaly with Congenital Hypothyroidism: A Case Report
Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The lissencephaly spectrum consists of agyria, pachygyria, and subcortical band heterotopia. At least 19 genes have been identified in the ca...
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| Format: | Article |
| Language: | English |
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Nepal Medical Association
2022-11-01
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| Series: | Journal of Nepal Medical Association |
| Subjects: | |
| Online Access: | https://www.jnma.com.np/jnma/index.php/jnma/article/view/7893 |
| _version_ | 1797983612615786496 |
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| author | Shambhu Kumar Sahani Anil Pathak Bishal Nepali Nilshan Rai |
| author_facet | Shambhu Kumar Sahani Anil Pathak Bishal Nepali Nilshan Rai |
| author_sort | Shambhu Kumar Sahani |
| collection | DOAJ |
| description |
Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The lissencephaly spectrum consists of agyria, pachygyria, and subcortical band heterotopia. At least 19 genes have been identified in the causation of lissencephaly and related syndrome. Lissencephaly is associated with many other congenital disorders but the association of lissencephaly with congenital hypothyroidism is rarely reported. We report a case of a 10-year-old girl having lissencephaly with congenital hypothyroidism. Early diagnosis of lissencephaly and genetic counselling can be made in suspected cases and further possible interventions can be taken. Also, regular follow-up, monitoring, and better conservative management lead to a better prognosis.
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| first_indexed | 2024-04-11T06:49:08Z |
| format | Article |
| id | doaj.art-5104539b8b35450da9f81aaab5a6192c |
| institution | Directory Open Access Journal |
| issn | 0028-2715 1815-672X |
| language | English |
| last_indexed | 2024-04-11T06:49:08Z |
| publishDate | 2022-11-01 |
| publisher | Nepal Medical Association |
| record_format | Article |
| series | Journal of Nepal Medical Association |
| spelling | doaj.art-5104539b8b35450da9f81aaab5a6192c2022-12-22T04:39:15ZengNepal Medical AssociationJournal of Nepal Medical Association0028-27151815-672X2022-11-016025510.31729/jnma.7893Lissencephaly with Congenital Hypothyroidism: A Case ReportShambhu Kumar Sahani0Anil Pathak1Bishal Nepali2Nilshan Rai3KIST Medical College and Teaching Hospital, Imadol, Lalitpur, NepalKIST Medical College and Teaching Hospital, Imadol, Lalitpur, Nepal.KIST Medical College and Teaching Hospital, Imadol, Lalitpur, NepalKIST Medical College and Teaching Hospital, Imadol, Lalitpur, Nepal Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The lissencephaly spectrum consists of agyria, pachygyria, and subcortical band heterotopia. At least 19 genes have been identified in the causation of lissencephaly and related syndrome. Lissencephaly is associated with many other congenital disorders but the association of lissencephaly with congenital hypothyroidism is rarely reported. We report a case of a 10-year-old girl having lissencephaly with congenital hypothyroidism. Early diagnosis of lissencephaly and genetic counselling can be made in suspected cases and further possible interventions can be taken. Also, regular follow-up, monitoring, and better conservative management lead to a better prognosis. https://www.jnma.com.np/jnma/index.php/jnma/article/view/7893congenital abnormalities; hypothyroidism; lissencephaly; neuronal migration disorders. |
| spellingShingle | Shambhu Kumar Sahani Anil Pathak Bishal Nepali Nilshan Rai Lissencephaly with Congenital Hypothyroidism: A Case Report Journal of Nepal Medical Association congenital abnormalities; hypothyroidism; lissencephaly; neuronal migration disorders. |
| title | Lissencephaly with Congenital Hypothyroidism: A Case Report |
| title_full | Lissencephaly with Congenital Hypothyroidism: A Case Report |
| title_fullStr | Lissencephaly with Congenital Hypothyroidism: A Case Report |
| title_full_unstemmed | Lissencephaly with Congenital Hypothyroidism: A Case Report |
| title_short | Lissencephaly with Congenital Hypothyroidism: A Case Report |
| title_sort | lissencephaly with congenital hypothyroidism a case report |
| topic | congenital abnormalities; hypothyroidism; lissencephaly; neuronal migration disorders. |
| url | https://www.jnma.com.np/jnma/index.php/jnma/article/view/7893 |
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