Lissencephaly with Congenital Hypothyroidism: A Case Report
| Autor: | Shambhu Kumar Sahani, Anil Pathak, Bishal Nepali, Nilshan Rai |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Journal of Nepal Medical Association, Vol 60, Iss 255 (2022) |
| Druh dokumentu: | article |
| ISSN: | 0028-2715 1815-672X |
| DOI: | 10.31729/jnma.7893 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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