JNMA; journal of the Nepal Medical Association · 2022
Lissencephaly with Congenital Hypothyroidism: A Case Report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Sahani Shambhu Kumar, Pathak Anil, Nepali Bishal, Rai Nilshan
Аннотация
UNLABELLED: 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.
KEYWORDS: congenital abnormalities; hypothyroidism; lissencephaly; neuronal migration disorders.
KEYWORDS: congenital abnormalities; hypothyroidism; lissencephaly; neuronal migration disorders.