Lissencephaly with Congenital Hypothyroidism: A Case Report

Authors

  • Shambhu Kumar Sahani KIST Medical College and Teaching Hospital, Imadol, Lalitpur, Nepal
  • Anil Pathak KIST Medical College and Teaching Hospital, Imadol, Lalitpur, Nepal.
  • Bishal Nepali KIST Medical College and Teaching Hospital, Imadol, Lalitpur, Nepal
  • Nilshan Rai KIST Medical College and Teaching Hospital, Imadol, Lalitpur, Nepal

DOI:

https://doi.org/10.31729/jnma.7893

Keywords:

congenital abnormalities; hypothyroidism; lissencephaly; neuronal migration disorders.

Abstract

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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Published

2022-11-02

How to Cite

Sahani, S. K. ., Pathak, A. ., Nepali, B. ., & Rai, N. . (2022). Lissencephaly with Congenital Hypothyroidism: A Case Report. Journal of Nepal Medical Association, 60(255), 978–981. https://doi.org/10.31729/jnma.7893

Issue

Vol. 60 No. 255 (2022): JNMA: Published Monthly

Section

Case Reports

License

Copyright (c) 2022 Anil Pathak

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