A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

Norikatsu Hikita, Hideji Hattori, Mitsuhiro Kato, Satoru Sakuma, Yoshiki Morotomi, Hiroshi Ishida, Toshiyuki Seto, Katsuji Tanaka, Taro Shimono, Haruo Shintaku, Daisuke Tokuhara

Brain & development 2014 Feb

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Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Citation

Norikatsu Hikita, Hideji Hattori, Mitsuhiro Kato, Satoru Sakuma, Yoshiki Morotomi, Hiroshi Ishida, Toshiyuki Seto, Katsuji Tanaka, Taro Shimono, Haruo Shintaku, Daisuke Tokuhara. A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. Brain & development. 2014 Feb;36(2):159-62