Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature

Journal of Medical Case Reports
Furene Sijia WangHian Tat Ong

Abstract

Urea cycle disorders are secondary to defects in the system converting ammonia into urea, causing accumulation of ammonia and other byproducts which are neurotoxic. Ornithine transcarbamylase deficiency is the most common of the urea cycle disorders and frequently presents with coma or seizures during hyperammonemia. However, seizures can also occur without metabolic decompensation. We describe a 23-year-old Chinese woman with urea cycle disorder who presented with confusion due to focal seizures arising from the left frontotemporal region. Interestingly, her ammonia levels remained normal during the seizures. Neuroimaging showed bilateral mesial temporal sclerosis. Her seizures were successfully controlled with two anti-epileptic medications. This case adds evidence of the predisposition of the temporal lobe to injury in urea cycle disorder. Urea cycle disorder can lead to mesial temporal sclerosis which leads to increased susceptibility of patients to seizures regardless of their metabolic state.

References

Jan 1, 1991·Pediatric Radiology·A C Mamourian, A du Plessis
Jan 22, 2003·Brain & Development·Aki KuriharaYoichi Kohno
Jun 28, 2008·AJNR. American Journal of Neuroradiology·A RoviraJ Córdoba
Mar 9, 2010·Molecular Genetics and Metabolism·Andrea Gropman
Dec 19, 2012·Seminars in Pediatric Neurology·Andrea L Gropman
Jan 1, 2014·Journal of Intensive Care·Marcel Cerqueira Cesar Machado, Fabiano Pinheiro da Silva

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