A Rare Syndrome: Microcephaly, Diabetes Mellitus, and Epilepsy Due to Homozygous TRMT10A Mutation

Although the association of epilepsy and Diabetes Mellitus is usually coincidental, it can be seen especially in childhood with Type 1 Diabetes Mellitus in the presence of anti-glutamic acid decarboxylase antibodies [1]. However, in 2013, a new syndrome with short stature, microcephaly, intellectual disability and Diabetes Mellitus was defined and autosomal recessive transmission due to tRNA methyltransferase homologous A gene mutation (TRMT10A) was shown [2]. In this syndrome, which was described in the following years, it has been observed that additional findings such as epilepsy, delayed puberty, renal hypoplasia could be found and there have been reports only based on cases since the year it was first described [3].
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research