Open AccessLissencephaly with Congenital Hypothyroidism: A Case Report
Author(s) -
Shambhu Kumar Sahani,
Anil Pathak,
Bishal Nepali,
Nilshan Rai
Publication year - 2022
Publication title -
journal of nepal medical association
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.176
H-Index - 19
eISSN - 1815-672X
pISSN - 0028-2715
DOI - 10.31729/jnma.7893
Subject(s) - lissencephaly , pachygyria , medicine , pediatrics , genetics , gene , biology
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.