Lissencephaly with Congenital Hypothyroidism: A Case Report.


Journal

JNMA; journal of the Nepal Medical Association
ISSN: 1815-672X
Titre abrégé: JNMA J Nepal Med Assoc
Pays: Nepal
ID NLM: 0045233

Informations de publication

Date de publication:
02 Nov 2022
Historique:
received: 18 10 2022
entrez: 27 1 2023
pubmed: 28 1 2023
medline: 31 1 2023
Statut: epublish

Résumé

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. congenital abnormalities; hypothyroidism; lissencephaly; neuronal migration disorders.

Identifiants

pubmed: 36705174
doi: 10.31729/jnma.7893
pmc: PMC9795095
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

978-981

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Auteurs

Shambhu Kumar Sahani (SK)

KIST Medical College and Teaching Hospital, Imadol, Lalitpur, Nepal.

Anil Pathak (A)

KIST Medical College and Teaching Hospital, Imadol, Lalitpur, Nepal.

Bishal Nepali (B)

KIST Medical College and Teaching Hospital, Imadol, Lalitpur, Nepal.

Nilshan Rai (N)

KIST Medical College and Teaching Hospital, Imadol, Lalitpur, Nepal.

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Classifications MeSH