Goldenhar syndrome and hereditary tyrosinemia type 1

Authors

• Moeen A. Al-Sayed
• Ali M. Al-Asmari
• Mohammed S. Rashed

Abstract

We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 (HTT1), to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-(2-nitro-4-trifluoromethyl benzoyl)-1,3-cyclohexanedione in the treatment of HTT1.

Article Type

Case Report

First Page

55

Last Page

59

Recommended Citation

Al-Sayed, Moeen A.; Al-Asmari, Ali M.; and Rashed, Mohammed S. (2003) "Goldenhar syndrome and hereditary tyrosinemia type 1," Neurosciences: Vol. 8: Iss. 1, Article 14.
DOI: https://doi.org/10.17712/1658-3183.1193