CTW Wong, JCK Chow, BWM But

Abstract

Mitochondrial diseases related to mutations of the mitochondrial tRNA^Val (MT-TV) gene are not common. We present the clinical features and disease course of the third reported case, as well as the first Chinese case, of mitochondrial disease with m.1630A>G mutation of the MT-TV gene that added to the phenotype spectrum of this particular variant. Our patient had an initial presentation of renal failure, and eventually development of stroke-like episode, followed by progression into significant MNGIE-like gastrointestinal dysmotility symptoms. We highlight the importance of recognising mitochondrial disease as one of the differential diagnosis when approaching children with chronic kidney disease or other renal disorders of unknown cause as it could be one of the first manifestations.